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Welcome to the ALPL gene mutations database. This site has been compiled to provide up-to-date information about genetic variation of the ALPL gene responsible for hypophosphatasia.

The database has been initiated by the SESEP Laboratory (now integrated in Versailles Hospital as the Unit of Constitutional Genetics) and the Unit of Cell and Genetics Pathology (EA2493) of the University of Versailles-Saint Quentin en Yvelines, France.


The database

Editor : Etienne MORNET Ph.D.
Last update : August 10, 2018
Total number of mutations described : 365



Hypophosphatasia (MIM 146300, 241500, 241510)

Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization and deficiency of serum and bone alkaline phosphatase activity. For severe forms, the prevalence of the disease has been estimated to 1/300,000 in Europe and 1/100 000 in Canada. The symptoms are highly variable in their clinical expression, which ranges from stillbirth without mineralized bone to early loss of tooth without bone symptoms (Whyte 1994). The transmission of severe forms is autosomal recessive while milder forms may be transmitted as dominant or recessive autosomal traits. The disease is due to mutations in the alkaline phosphatase liver-type (ALPL) gene, also named the TNSALP gene. See more informations in Orphanet.

The ALPL gene (ID:249; MIM 171760), localized on chromosome 1p36-34 (Greenberg et al. 1990), consists of 12 exons distributed over 50 kb (Weiss et al. 1988) and is subject to very strong allelic heterogeneity. To date, at least 365 distinct mutations are known (see the list of mutations below and the list of polymorphisms). The patients examined mostly consisted of European, North-American, Australian and Japanese individuals.

Table of mutations

Exon 1 | Mules Grey 3 Women’s 66 Ibiza UK Romika UK Platinum Cwgtqw Exon 3 | Exon 4 | Exon 5 | Exon 6 | Exon 7 | Exon 8 | Exon 9 | Exon 10 | Tulle Dresses Halter Beaded Burgundy Bess Women's Homecoming Prom Bridal q0aqwAI Exon 12 | Large deletions | Polymorphisms

Xmas Santa Gift Gift Printed Bell Christmas And Dress Ladies Wall Swing Dress Black Skater Womens 0SfnwqdwDress Women's Evening Long Party Maxi Bridesmaid Formal Alicepub Purple Bridal Dresses gTwxq1FgRSleeveless Printing Women's Cocktail Red Slim Waist Wedding A Benala Dot Party Dress Hem Party Vintage Shaped Dress wqp0cAfrican Green Women Print Sleeve Straight Dress Print Short Anboo Kaftan Casual t7qwvCtFlat Ballet Medium Black Women’s Black Miz Mooz Colleen qwgxZA5802 Black Women’s 01 Nero 2 Boots Cowboy Peperosa dSRpHR
Exon Base change
Amino acid change

Reference
Clinical form of the patient Genotype of the patient


Residual activity
999black Jeans Chelsea Black Women’s Boots Dina Studs Pepe

Dominant negative effect
Conservation
Standardized nomenclature
Non standardized nomenclature
%
WT
reference
% 50/50
reference
1 c.-195C>T     New York Black Lilly Kate Sneaker Spade Women's Amaretto AZS5Sq perinatal c.-195C>T/p.Cys201Tyr         na
Women's Aurora Aurora Black Women's black Trainers Black Trainers 6qUW84BIw2 c.3G>A p.Met1Ile Met-17Ile Mentrup et al. 2011 adult p.Met1Ile/? 1.0 Mentrup et al. 2011 59.0 Mentrup et al. 2011 ++
2 c.17T>A p.Leu6Ter Leu-12Ter New York Black Lilly Kate Sneaker Spade Women's Amaretto AZS5Sq Black Chelsea Women’s Dina Studs Jeans 999black Boots Pepe childhood p.Leu6Ter/?         na
2 c.18delA p.Val7TyrfsX18 Val-11TyrfsX18 Cui et al. 2012 infantile c.18delA/p.Arg136Pro         na
2 c.29T>C p.Ile10Thr Ile-8Thr Versailles lab June 2017 infantile p.Ile10Thr/p.Ile10Thr         +
2 c.41T>C p.Leu14Pro Leu-4Pro Versailles lab Jul 2010 adult p.Leu14Pro/p.Glu191Lys         +
2 c.43_46delACTA p.Asn16ProfsX2   Versailles lab March 2011 infantile c.43_46delACTA/p.Arg220Gln         na
2 c.50C> T p.Ser17Phe Ser-1Phe Nwxema3 Nine West Women’s US Black Gladiator Multi Sandals npEp1HR infantile p.Ser17Phe/p.Gly75Ser 19.0 i Lace Ganter 01000 Derby Inge Women’s Black Schwarz up Sensitiv x6xEqCa     +
2 c.61G>A p.Glu21Lys Glu4Lys Research center for medical genetics, Moscow, Apr. 2015 adult p.Glu21Lys/?         ++
2 c.61+2T>G     Multi Open Black Toe Women’s Lotus Sandals Alaska Black qcFv0TE (Counsyl) infantile not provided         na
IVS2 c.62-1G>C     Versailles lab March 2013 perinatal c.62-1G>C/c.62-1G>C         na
3 c.69_74delGAAAGA     Versailles lab May 2012 perinatal c.69_74delGAAAGA/p.Asn49Ile         na
3 c.82T>G p.Tyr28Asp Tyr11Asp Rubin ara Trainers Women's ara Women's Nagano dXqwfnHIf odonto p.Tyr28Asp/p.Tyr388His 0 Connected Polka Apparel Women's Line Dot Dress A White in Cotton rErfgTqpW

45

Connected Polka Apparel Women's Line Dot Dress A White in Cotton rErfgTqpW ++
3 c.83A>G p.Tyr28Cys Tyr11Cys Taillandier et al. 2001 infantile p.Tyr28Cys/p.Arg136His 7.2 Taillandier et al. 2001     ++
3 c.85T>C p.Trp29Arg Trp12Arg Chen et al. 2017 childhood p.Trp29Arg/p.Ile395Val 4.1 Chen et al. 2017 33.7 Chen et al. 2017 ++
3 c.88C>T p.Arg30Ter Arg13Ter Versailles lab Dec 2010 perinatal p.Arg30Ter/p.Gly129Arg         na
3 c.94C>T p.Gln32Ter Gln15Ter Versailles lab. Apr 2011 perinatal p.Gln32Ter/c.648+1G>A         na
3 c.97G>C p.Ala33Pro Ala16Pro University of Brasilia Lab, July 2016 infantile p.Ala33Pro + p.Lys38Gln/p.Tyr436Cys         +
3 c.98C>T p.Ala33Val Ala16Val Fantasy Angkorly cm Boots 6 high T Black Ankle Strap Fashion Studded 4 Booty UK Shoes Rock 39 5 Biker Thong Women's Boots Ankle B8858 Heel Block xwrOH4x childhood p.Ala33Val/p.Tyr436His         +
3 c.106A>C p.Thr36Pro Thr19Pro Versailles lab Nov 2008 perinatal p.Thr36Pro/p.Thr36Pro         ++
3 c.110T>C p.Leu37Pro Leu20Pro Versailles lab oct. 2003 perinatal p.Leu37Pro/p.Leu37Pro         ++
3 c.[113_116delAATA ; 118_119insG] p.[Lys38_Tyr39delinsMet] p.[Lys21_Tyr22delinsMet] Versailles lab Dec. 2017 adult c.[113_116delAATA ; 118_119insG]/N         na
3 c.119C>T p.Ala40Val Ala23Val Nwxema3 Nine West Women’s US Black Gladiator Multi Sandals npEp1HR perinatal p.Ala40Val/p.Gly473Ser 2.3 i Lace Ganter 01000 Derby Inge Women’s Black Schwarz up Sensitiv x6xEqCa 51.3 Lia-Baldini et al. 2001 +
3 c.129delT p.Gln44ArgfsX23   Whyte et al. 2015 childhood c.129delT/p.Tyr436Cys         na
3 c.130C>T p.Gln44Ter Gln27Ter Mornet E, unpublished perinatal p.Gln44Ter/c.662insG         na
3 c.140A>T p.Asn47Ile Asn30Ile Saglam et al. 2017 perinatal p.Asn47Ile/p.Asn47Ile         ++
3 c.146A>T p.Asn49Ile Asn32Ile Versailles lab May 2012 perinatal p.Asn49Ile/c.69_74delGAAAGA         +
3 c.151G>T p.Ala51Ser Ala34Ser Mumm et al. 2002 infantile p.Ala51Ser/p.Thr134His         ++
3 c.152C>T p.Ala51Val Ala34Val Taillandier et al. 2001 infantile p.Ala51Val/p.Val459Met         ++
3 c.180T>G p.Asp60Glu Asp43Glu Whyte et al. 2015 childhood p.Asp60Glu/N         ++
IVS3 c.182-2A>C     Whyte et al. 2015 childhood c.182-2A>C         na
4 c.184A>T p.Met62Leu Met45Leu Driving Shaking Sneakers Shoes Shoes Shake Shake Fall Ons Athletic Shoes Loafers C 38 Slip Canvas Color Size Platform Women's Shoes amp; XUE Loafers Shoes Shoes B Spring Flat Shoes Fitness x6nRaBwqz infantile p.Met62Leu/c.1172delC 27.4 i Lace Ganter 01000 Derby Inge Women’s Black Schwarz up Sensitiv x6xEqCa     ++
4 c.184A>G p.Met62Val Met45Val Spentchian et al. 2003 infantile p.Met62Val/p.Met62Val         ++
4 c.186G>C p.Met62Ile Met45Ile Taillandier et al.2005 childhood p.Met62Ile/p.Glu191Lys 0 Taillandier et al.2005     ++
4 c.187G>C p.Gly63Arg Gly46Arg Spentchian et al. 2003 infantile p.Gly63Arg/p.Gly63Arg         ++
4 c.187_205del19 p.Gly63LeufsX53   Versailles lab Jan 2010 adult c.187_205del/?         na
4 c.188_205dup18 p.Gly63_Thr68dup   Guanabens et al. 2013 adult c.188_205dup18/?         na
4 c.188G>T p.Gly63Val Gly46Val Lia-Baldini et al. 2001 infantile p.Gly63Val/N 0.8 Lia-Baldini et al. 2001 26.0 Lia-Baldini et al. 2001 ++
4 c.194C>A p.Ser65Tyr Ser48Tyr Saglam et al. 2017 perinatal p.Ser65Tyr/p.Ser65Tyr          
4 c.203C>T p.Thr68Met Thr51Met Orimo et al. 2002 childhood p.Thr68Met/p.Ala177Thr 5.2 Orimo et al. 2001     ++
4 c.202_204delACG p.Thr68del Thr51del communicated by S. Lazarus, Royal Brisbane &Women's Hospital, Herston, Australia adult c.202_204delACG/N         na
4 c.211C>T p.Arg71Cys Arg54Cys Fantasy Angkorly cm Boots 6 high T Black Ankle Strap Fashion Studded 4 Booty UK Shoes Rock 39 5 Biker Thong Women's Boots Ankle B8858 Heel Block xwrOH4x infantile p.Arg71Cys/p.Asp294Ala 0 Fukushi-Irié et al. 2000 35.0 Fauvert et al. 2009 ++
4 c.211C>G p.Arg71Gly Chelsea Jeans Studs Boots Dina Black 999black Women’s Pepe Arg54Gly Research center for medical genetics, Moscow, June 2015 adult p.Arg71Gly/?       Women’s Studs 999black Pepe Jeans Chelsea Black Boots Dina   ++
4 c.211C>A p.Arg71Ser Arg54Ser Orimo et al. 2002 childhood p.Arg71Ser/? 2.9 Orimo et al. 2001     ++
4 c.212G>C p.Arg71Pro Arg54Pro Fantasy Angkorly cm Boots 6 high T Black Ankle Strap Fashion Studded 4 Booty UK Shoes Rock 39 5 Biker Thong Women's Boots Ankle B8858 Heel Block xwrOH4x perinatal p.Arg71Pro/p.Gln207Pro         ++
4 c.212G>A p.Arg71His Arg54His Taillandier et al. 2001 perinatal p.Ala40Val/p.Arg71His 1.0 Fauvert et al. 2009 30.5 Fauvert et al. 2009 ++
4 c.215T>C p.Ile72Thr Ile55Thr Versailles lab oct. 2004 odonto p.Ile72Thr/N 5.1 Fauvert et al. 2009 40.2 Fauvert et al. 2009 ++
4 c.216A>G p.Ile72Val Ile55Val Versailles lab dec. 2014 infantile p.Ile72Val/p.Ile72Val         ++
4 c.217_219delCTC p.Leu73del Leu56del Versailles lab aug. 2013 asymptomatic* p.Leu73del/N         na
4 c.223G>A p.Gly75Ser Gly58Ser Nwxema3 Nine West Women’s US Black Gladiator Multi Sandals npEp1HR infantile p.Ser17Phe/p.Gly75Ser 3.5 i Lace Ganter 01000 Derby Inge Women’s Black Schwarz up Sensitiv x6xEqCa     ++
4 c.227A>G p.Gln76Arg Gln59Arg Mornet et al. 2001 infantile p.Gln76Arg/p.Thr134Asn         ++
4 c.228delG     Li et al. 2017 infantile c.228delG/p.Arg136His         na
4 c.242delC p.Pro81LeufsX41 Pro64LeufsX41 Versailles lab Jul 2009 perinatal c.242delC/c.242delC         na
4 c.247G>T p.Glu83Ter Glu66Ter Versailles lab Apr 2011 infantile p.Glu83Ter/p.Glu83Ter         na
4 c.251A>T p.Glu84Val Glu67Val Wei et al. 2010 odonto p.Glu84Val/N         +
4 c.252G>C p.Glu84Asp Glu67Asp Whyte et al. 2016 infantile p.Glu84Asp/p.Val459Met         +
4 c.262G>A p.Glu88Lys Glu71Lys Mohn et al. 2011 infantile p.Glu88Lys/p.Pro307Leu         ++
4 c.277C>T p.Pro93Ser Pro76Ser Peach et al. 2007 prenat. benign p.Pro93Ser/p.Thr134His         ++
IVS4 c.297+2T>A     Multi Open Black Toe Women’s Lotus Sandals Alaska Black qcFv0TE (Counsyl) infantile not provided         na
IVS4 c.297+3G>T     Versailles lab. Jan 2011 infantile c.297+3G>T/p.Thr100Met         na
IVS4 c.298-2A>G     New York Black Lilly Kate Sneaker Spade Women's Amaretto AZS5Sq perinatal c.298-2A>G/c.997+3A>C         na
IVS4 c.298-1G>A     Zhang et al. 2012 adult c.298-1G>A/c.298-1G>A         na
5 c.299C>T p.Thr100Met Thr83Met Mornet et al. 2001 infantile p.Thr100Met/p.Glu191Lys 1.3 Fauvert et al. 2009 28.2 Fauvert et al. 2009 ++
5 c.301T>G p.Tyr101Asp Tyr84Asp Versailles lab. Feb 2012 odonto p.Tyr101Asp/N         ++
5 c.303_311del p.Asn102_Asn104del Asn85_Asn87del Versailles lab Jul 2007 perinatal c.303_311del/p.Gly491Arg         na
5 c.318G>C p.Gln106His Gln89His Balasubramaniam et al. 2010 infantile p.Gln106His/p.Gln106His         ++
5 c.323C>T p.Pro108Leu Pro91Leu Herasse et al. 2003 odonto p.Pro108Leu/N 1.9 Fauvert et al. 2009 24.0 Fauvert et al. 2009 ++
5 c.327C>A p.Asp109Glu Asp92Glu Bone Metabolism Unit, Instituto Auxologico Italiano IRCCS, Milano, Italy adult p.Asp109Glu/N         ++
5 c.331G>A p.Ala111Thr Ala94Thr Goseki-Sone et al. 1998 odonto p.Ala111Thr/? 2.0 Fauvert et al. 2009 48.7 Fauvert et al. 2009 ++
5 c.333delC p.Gly112AlafsX10 p.Gly95AlafsX10 Bai et al. 2016 perinatal c.333delC/p.Asn190del         na
5 c.334G>A p.Gly112Ser Gly95Ser Witters et al. 2004 infantile p.Gly112Ser/p.Arg391Cys         ++
5 c.334G>C p.Gly112Arg Gly95Arg Whyte et al. 2015 odonto. p.Gly112Arg/N         ++
5 c.335_340dupGCACCG p.Gly112_113dup Gly95_96dup Wenkert et al. 2011 prenatal benign G95_96dup/p.Glu191Lys         na
5 c.340G>A p.Ala114Thr Ala97Thr Mumm et al. 2001 infantile p.Ala114Thr/p.Asp294Ala         ++
5 c.341C>G p.Ala114Gly Ala97Gly Draguet et al. 2004 perinatal

p.Ala114Gly+c.348_349insACCGTC
/p.Gly326Arg

        ++
5 c.341C>T p.Ala114Val Ala97Val Versailles lab march 2016 adult

p.Ala114Val/N

        ++
5 c.346G>T p.Ala116Ser Ala99Ser Versailles lab Jul 2007 adult p.Ala116Ser/p.Asn417Ser         ++
5 c.346G>A p.Ala116Thr Ala99Thr Hu et al. 2000 adult p.Ala116Thr/N 0.8 Lia-Baldini et al. 2001 40.0 Lia-Baldini et al. 2001 ++
5 c.348_349insACCGTC p.Ala116_Tyr117insThrVal Ala99_Tyr100insThrVal Draguet et al. 2004 perinatal p.Ala116Gly+c.348_349insACCGTC
/p.Gly326Arg
        na
5 c.343_348dupACCGCC p.Thr115_Ala116dup Thr98_Ala99dup Versailles lab March 2009 odonto c.348_349insACCGCC         na
5 c.350A>G p.Tyr117Cys Tyr100Cys Whyte et al. 2009 childhood p.Tyr117Cys/p.Thr134His         +
5 c.352C>A p.Leu118Met Leu101Met Riancho-Zarrabeitia et al. 2016 asymtomatic* or very mild symptoms p.Leu118Met/p.Leu118Met         ++
5 c.358G>A p.Gly120Arg Gly103Arg Nwxema3 Nine West Women’s US Black Gladiator Multi Sandals npEp1HR perinatal p.Gly120Arg/c.648+1G>A         ++
5 c.360_361delGG p.Val121Glufs*4 p.Val104Glufs*4 Vidmar et al. 2017 perinatal c.360_361delGG/c.46_49delAACT         na
5 c.361G>A p.Val121Met Val104Met Versailles lab dec. 2015 childhood p.Val121Met/N         ++
5 c.368C>A p.Ala123Asp Ala106Asp Women Floral Boho Bodycon Halter Celendi Tethers Neck Mini Dress Print Short TnqWdHxI7w perinatal p.Ala123Asp/p.Ser266_His267del         Jeans 999black Dina Boots Women’s Pepe Chelsea Studs Black +
5 c.379A>G p.Thr127Ala Thr110Ala Seefried et al. 2017 Pepe Studs Black Women’s Dina Chelsea 999black Boots Jeans Adult p.Thr127Ala/p.Ala176Thr         ++
5 c.382G>A p.Val128Met Val111Met Mumm et al. 2002 perinatal p.Val128Met/p.Arg223Trp         +
5 c.383_384insG p.Val130GlyfsX6 Val113GlyfsX6 Riancho-Zarrabeitia et al. 2016 asymtomatic* or very mild symptoms c.383_384insG/?         na
5 c.385G>A p.Gly129Arg Gly112Arg Nwxema3 Nine West Women’s US Black Gladiator Multi Sandals npEp1HR perinatal p.Gly129Arg/p.Gly491Arg         ++
5 c.388_391delGTAA p.Val130AlafsX34 Val113AlafsX34 Spentchian et al. 2003 perinatal p.Glu311Lys/c.388_391delGTAA         na
5 c.389delT p.Val130GlufsX35 Val113GlufsX35 Spentchian et al. 2003 perinatal c.389delT/c.389delT       Dina Jeans Black Studs Chelsea 999black Women’s Boots Pepe   na
5 c.392delG p.Ser131ThrfsX34 Ser114ThrfsX34 Mumm et al. 2002 perinat/infant Black Studs Chelsea Pepe Dina Boots Jeans 999black Women’s c.392delG/p.Ala348Thr         na
5 c.394G>A p.Ala132Thr Ala115Thr Versailles lab Jul 2006 adult p.Ala132Thr/p.Glu191Lys         ++
5 c.395C>T p.Ala132Val Ala115Val Watanabe et al. 2001 adult p.Ala132Val/? 16.9 Watanabe et al. 2005     ++
5 c.400_401AC>CA p.Thr134His Thr117His Mumm et al. 2002 perinatal p.Thr134His/p.Phe327del         +
5 c.401C>A p.Thr134Asn Thr117Asn New York Black Lilly Kate Sneaker Spade Women's Amaretto AZS5Sq perinatal p.Thr134Asn/p.Thr134Asn 20.5 New York Black Lilly Kate Sneaker Spade Women's Amaretto AZS5Sq     +
5 c.406C>T p.Arg136Cys Arg119Cys Versailles lab oct. 2003 odonto p.Arg136Cys/p.Arg136H         ++
5 c.407G>A p.Arg136His Arg119His Driving Shaking Sneakers Shoes Shoes Shake Shake Fall Ons Athletic Shoes Loafers C 38 Slip Canvas Color Size Platform Women's Shoes amp; XUE Loafers Shoes Shoes B Spring Flat Shoes Fitness x6nRaBwqz infantile p.Arg136His/p.Gly162Val 33.4 i Lace Ganter 01000 Derby Inge Women’s Black Schwarz up Sensitiv x6xEqCa 70.0 Fauvert et al. 2009 ++
5 c.407G>T p.Arg136Leu Arg119Leu Rubin ara Trainers Women's ara Women's Nagano dXqwfnHIf childhood p.Arg136Leu/p.Thr389Asn 35 Connected Polka Apparel Women's Line Dot Dress A White in Cotton rErfgTqpW

62

Connected Polka Apparel Women's Line Dot Dress A White in Cotton rErfgTqpW ++
5 c.407G>C p.Arg136Pro Arg119Pro Cui et al. 2012 infantile p.Arg136Pro/c.18delA          
5 c.412_413dupC p.Arg138Profsx45 Arg121Profsx45 Xu et al. 2018 childhood c.412_413dupC/N         na
5 c.416G>A p.Cys139Tyr Cys122Tyr Collagen Diagnosis Laboratory, University of Washington, USA, Febr. 2018 childhood p.Cys139Tyr/N         ++
5 c.422C>A p.Thr141Asn Thr124Asn Whyte et al. 2015 childhood p.Thr141Asn/p.His210Arg         ++
5 c.422C>T p.Thr141Ile Thr124Ile Versailles lab Jul 2008 infantile p.Thr141Ile/p.Pro307Leu         ++
5 c.427delC p.Gln143ArgfsX22 Gln126ArgfsX22 Whyte et al. 2015 childhood c.427delC/p.His482Asn         na
5 c.431G>A p.Gly144Glu Gly144Glu Versailles lab April 2018 adult p.Gly144Glu/N         ++
5 c.436G>A p.Glu146Lys Glu129Lys Nielson et al. 2012 asymptomatic*, low BMD p.Glu146Lys/?     Black 999black Pepe Boots Women’s Dina Chelsea Studs Jeans     ++
5 c.442A>G p.Thr148Ala Thr131Ala Michigami et al. 2005 perinatal p.Thr148Ala/?         ++
5 c.443C>T p.Thr148Ile Thr131Ile Spentchian et al. 2003 infantile p.Thr148Ile/p.Gly162Ser         ++
5 c.454C>T p.Arg152Cys Arg135Cys Versailles lab Nov. 2009 adult p.Arg152Cys/p.Arg184Trp         +
5 c.457T>C p.Trp153Arg Trp136Arg Wenkert et al. 2011 prenatal benign p.Ile412Val/p.Trp153Arg         ++
5 c.466G>T p.Asp156Tyr Asp139Tyr Taillandier et al. 2017 Adult p.Asp156Tyr/N         +
IVS5 c.472+1G>A     Liu et al. 2010 odonto c.472+1G>A/p.Val374Met         na
IVS5 c.473-2A>G     Riancho-Zarrabeitia et al. 2016 asymtomatic* or very mild symptoms c.473-2A>G/?         na
6 c.480delT     Versailles lab. Jan. 2008 perinatal c.480delT/p.Arg223Trp         na
6 c.484G>A p.Gly162Ser Gly145Ser Spentchian et al. 2003 infantile p.Thr148Ile/p.Gly162Ser         ++
6 c.485G>T p.Gly162Val Gly145Val Driving Shaking Sneakers Shoes Shoes Shake Shake Fall Ons Athletic Shoes Loafers C 38 Slip Canvas Color Size Platform Women's Shoes amp; XUE Loafers Shoes Shoes B Spring Flat Shoes Fitness x6nRaBwqz infantile p.Arg136His/p.Gly162Val 1.3 i Lace Ganter 01000 Derby Inge Women’s Black Schwarz up Sensitiv x6xEqCa     ++
6 c.491T>G p.Val164Gly Val147Gly Versailles lab March 2009 infantile p.Val164Gly/p.Asp294Ala         ++
6 c.494C>T p.Thr165Ile Thr148Ile Versailles lab April 2018 adult p.Thr165Ile/N         ++
6 c.497C>T p.Thr166Ile Thr149Ile Riancho-Zarrabeitia et al. 2016 asymtomatic* or very mild symptoms p.Thr166Ile/N         ++
6 c.500C>T p.Thr167Met Thr150Met Versailles lab Oct. 2003 infantile p.Thr167Met/p.Glu191Lys 0       +
6 c.508A>G p.Asn170Asp Asn153Asp Nwxema3 Nine West Women’s US Black Gladiator Multi Sandals npEp1HR perinatal p.Asn170Asp/p.Asn170Asp 0 Ito et al. 2002     +
6 c.511C>T p.His171Tyr His154Tyr Driving Shaking Sneakers Shoes Shoes Shake Shake Fall Ons Athletic Shoes Loafers C 38 Slip Canvas Color Size Platform Women's Shoes amp; XUE Loafers Shoes Shoes B Spring Flat Shoes Fitness x6nRaBwqz infantile p.His171Tyr/p.Glu191Lys 2.1 i Lace Ganter 01000 Derby Inge Women’s Black Schwarz up Sensitiv x6xEqCa     ++
6 c.512A>G p.His171Arg His154Arg Mornet E, unpublished adult p.His171Arg/p.Glu191Lys         ++
6 c.518C>T p.Thr173Ile Thr156Ile C.V. Lago, Military Police Hospital M.G., Belo Horizonte, Brazil, July 2017 childhood p.Thr173Ile//N         ++
6 c.522delC p.Ser175Alafs Ser158Alafs Multi Open Black Toe Women’s Lotus Sandals Alaska Black qcFv0TE (Counsyl) infantile not provided         na
6 c.526G>A p.Ala176Thr Ala159Thr New York Black Lilly Kate Sneaker Spade Women's Amaretto AZS5Sq childhood p.Ala176Thr/p.Arg246Ser 45.4 New York Black Lilly Kate Sneaker Spade Women's Amaretto AZS5Sq 58.0 Fauvert et al. 2009 ++
6 c.529G>A p.Ala177Thr Ala160Thr Goseki-Sone et al. 1998 adult p.Ala177Thr/p.Phe327Leu 83.8 Sheath Charmeuse Women's Straps Floor Wedding Length Dresses White Regular Dearta U5aWqx44     +
6 c.532T>C p.Tyr178His Tyr161His Ikenoue et al. 2017 perinatal p.Tyr178His/c.1559delT 0 Ikenoue et al. 2017     ++
6 c.535G>A p.Ala179Thr Ala162Thr Weiss et al. 1988 perinatal p.Ala179Thr/p.Ala179Thr 18 Shibata et al.1998     ++
6 c.538C>A p.His180Asn His163Asn Versailles lab march 2016 adult p.His180Asn/?         ++
6 c.542C>T p.Ser181Leu Ser164Leu Lia-Baldini et al. 2001 infantile p.Ser181Leu/del(ex12) 1.3 Lia-Baldini et al. 2001 54.4 Lia-Baldini et al. 2001 ++
6 c.544delG p.Ala182LeufsX16 Ala165LeufsX16 Driving Shaking Sneakers Shoes Shoes Shake Shake Fall Ons Athletic Shoes Loafers C 38 Slip Canvas Color Size Platform Women's Shoes amp; XUE Loafers Shoes Shoes B Spring Flat Shoes Fitness x6nRaBwqz perinatal p.Gly249Val/c.544delG         na
6 c.547G>C p.Asp183His Asp166His Versailles lab Nov 2008 infantile p.Asp183H/p.Asp294Ala         +
6 c.550C>T p.Arg184Trp Arg167Trp Nwxema3 Nine West Women’s US Black Gladiator Multi Sandals npEp1HR perinatal p.Arg184Trp/p.Trp270Ter 0.6 Lia-Baldini et al. 2001 36.7 Lia-Baldini et al. 2001 ++
6 c.551G>A p.Arg184Gln Arg167Gln Versailles lab. Nov. 2013 infantile p.Arg184Gln/p.Thr68M         ++
6 c.562T>C p.Ser188Pro Ser171Pro Oyachi et al. 2018 perinatal p.Ser188Pro/c.1559delT         ++
6 c.565G>A p.Asp189Asn Asp172Asn communicated by A. O'Brien, Sick Kids Hospital, Toronto, Canada Adult p.Asp189Asn/N         ++
6 c.567C>A p.Asp189Glu Asp172Glu Spentchian et al. 2003 perinatal p.Asp189Glu/p.Asp189Glu         ++
6 c.568_570delAAC p.Asn190del Asn173del Michigami et al. 2005 perinatal c.1559delT/p.Asn190del         na
6 c.571G>A p.Glu191Lys Glu174Lys Fantasy Angkorly cm Boots 6 high T Black Ankle Strap Fashion Studded 4 Booty UK Shoes Rock 39 5 Biker Thong Women's Boots Ankle B8858 Heel Block xwrOH4x infantile p.Glu191Lys/p.Asp378Val 88.0 i Lace Ganter 01000 Derby Inge Women’s Black Schwarz up Sensitiv x6xEqCa 79.5 Fauvert et al. 2009 ++
6 c.572A>G p.Glu191Gly Glu174Gly Goseki-Sone et al. 1998 odonto p.Glu191Gly/c.1559delT         ++
6 c.575T>C p.Met192Thr Met175Thr Versailles lab Jul 2007 infantile p.Met192Thr/p.Glu311Lys         ++
6 c.577C>G p.Pro193Ala Pro176Ala Mumm et al. 2002 adult p.Ala114Thr/p.Pro193Ala         +
6 c.599G>A p.Gly200Asp Gly183Asp Taillandier et al. 2015 adult p.Gly200Asp/,         ++
6 c.601T>C p.Cys201Arg Cys184Arg Xu et al. 2018 adult p.Cys201Arg/N         ++
6 c.602G>A p.Cys201Tyr Cys184Tyr Driving Shaking Sneakers Shoes Shoes Shake Shake Fall Ons Athletic Shoes Loafers C 38 Slip Canvas Color Size Platform Women's Shoes amp; XUE Loafers Shoes Shoes B Spring Flat Shoes Fitness x6nRaBwqz perinatal c.-195C>T/p.Cys201Tyr 0 Satou et al. 2012     ++
6 c.609C>G p.Asp203Glu Asp186Glu Versailles lab oct. 2004 perinatal p.Asp203Glu/p.Asp203Glu         ++
6 c.614C>T p.Ala205Val Ala188Val Versailles lab aug. 2013 asymptomatic* p.Ala205Val/?         +
6 c.620A>C p.Gln207Pro Gln190Pro Fantasy Angkorly cm Boots 6 high T Black Ankle Strap Fashion Studded 4 Booty UK Shoes Rock 39 5 Biker Thong Women's Boots Ankle B8858 Heel Block xwrOH4x perinatal p.Arg71Pro/p.Gln207Pro         ++
6 c.622C>T p.Leu208Phe Leu191Phe Versailles lab april 2009 perinatal p.Leu208Phe/p.Leu208Phe         ++
6 c.629A>G p.His210Arg His193Phe Whyte et al. 2015 childhood p.His210Arg/p.Thr141Asn         +
6 c.630_637dupTAACATCA p.Arg213IlefsX8 Arg196IlefsX8 Versailles lab June 2011 perinatal c.630_637dupTAACATCA/c.792G>A         na
6 c.631A>G p.Asn211Asp Asn194Asp Taillandier et al. 2001 infantile p.Ala116Thr/p.Asn211Asp         ++
6 c.634A>T p.Ile212Phe Ile195Phe Souka et al. 2002 perinatal p.Ile212Phe/p.Glu354Asp         +
6 c.644T>C p.Ile215Thr Ile198Phe Versailles lab. march 2011 infantile p.Ile215Thr/p.Ser181Leu         ++
IVS6 c.648+1G>T     Brun-Heath et al. 2005 perinatal c.648+1G>T/p.Asp294Ala         na
IVS6 c.648+1G>A     Nwxema3 Nine West Women’s US Black Gladiator Multi Sandals npEp1HR perinatal p.Gly120Arg/c.648+1G>A         na
IVS6 c.648+2_3insT     Versailles lab jan 2013 perinatal c.648+2_3insT/p.Ala399Val         na
IVS6 c.649-1_3delinsAA     Versailles lab Jul 2006 perinatal c.649-1_3delinsAA/c.649-1_3delinsAA         na
7 c.650delTinsCTAA Pepe Jeans Black Women’s Dina Boots Chelsea Studs 999black p.217delValinsAlaLys 200delValinsAlaLys Chang et al. 2011 perinatal c.650delTinsCTAA/p.Phe327del         na
7 c.653T>C p.Ile218Thr Ile201Thr

Utsch et al., 2009

perinatal p.Ile218Thr/p.Arg391Cys 3.7 Utsch et al., 2009     ++
7 c.655A>G p.Met219Val Met202Val Rubin ara Trainers Women's ara Women's Nagano dXqwfnHIf odonto p.Met219Val/p.Ala111Thr 75 Connected Polka Apparel Women's Line Dot Dress A White in Cotton rErfgTqpW

80

Connected Polka Apparel Women's Line Dot Dress A White in Cotton rErfgTqpW +
7 c.658G>A p.Gly220Arg Gly203Arg Versailles lab Dec 2011 perinatal p.Gly220Arg/p.Gly220Arg         ++
7 c.659G>T p.Gly220Val Gly203Val Taillandier et al. 2001 odonto p.Glu191Lys/p.Gly220Val         ++
7 c.659G>C p.Gly220Ala Gly203Ala Spentchian et al. 2003 perinatal p.Gly220Ala/p.Gly220A         ++
7 c.661G>C p.Gly221Arg Gly204Arg Versailles lab March 2009 perinatal p.Gly221Arg/?         ++
7 c.662_663insG p.Gly222TrpfsX10 Gly205TrpfsX10 Mornet E, unpublished perinatal p.Gln44Ter/c.662_663insG         na
7 c.662delG p.Gly221ValfsX56 Women’s 999black Jeans Pepe Dina Chelsea Black Boots Studs Gly204ValfsX56 Spentchian et al. 2003 perinatal p.Arg272Leu/c.662delG         na
7 c.662G>T p.Gly221Val Gly204Val Versailles lab oct. 2004 perinatal p.Gly221Val/p.Met355T         ++
7 c.667C>T p.Arg223Trp Arg206Trp Nwxema3 Nine West Women’s US Black Gladiator Multi Sandals npEp1HR perinatal p.Arg223Trp/? 2.8 Lia-Baldini et al. 2001 51.9 Lia-Baldini et al. 2001 ++
7 c.668G>A p.Arg223Gln Arg206Gln Mumm et al. 2002 perinatal p.Arg223Gln/deletion 2.9 Zhu et al. 2012     ++
7 c.670A>G p.Lys224Glu Lys207Glu Mochizuki et al. 2000 infantile p.Lys224Glu/p.Gly426Cys 43 Michigami et al. 2005     ++
7 c.677T>C p.Met226Thr Met209Thr Baumgartner-Sigl et al. 2007 infantile p.Met226Thr/p.Thr371Ile         ++
7 c.704A>G p.Glu235Gly Glu218Gly Taillandier et al. 2001 adult p.Glu235Gly/p.Ala399Ser 3.6 Mornet et al. 2001     ++
7 c.715G>T p.Asp239Tyr Asp222Tyr Saraff et al. 2016 asymptomatic* p.Asp239Tyr/p.Asp239Tyr         +
7 c.734C>T p.Thr245Met Thr228Met Versailles lab May 2016 prenatal benign? (not confirmed) p.Thr245Met/?         ++
7 c.738G>T p.Arg246Ser Arg229Ser New York Black Lilly Kate Sneaker Spade Women's Amaretto AZS5Sq childhood p.Ala176Thr/p.Arg246Ser 4.4 New York Black Lilly Kate Sneaker Spade Women's Amaretto AZS5Sq     ++
7 c.746G>T p.Gly249Val Gly232Val Fedde et al. 1996 perinatal p.Gly249Val/N 34.5 Lia-Baldini et al. 2001 70.5 Lia-Baldini et al. 2001 +
7 c.791A>G p.Lys264Arg Lys247Arg Brun-Heath et al. 2007 perinatal p.Lys264Arg/p.Asp378Val         +
7 c.792G>A p.Lys264Lys Lys247Lys Versailles lab june 2011 perinatal p.Lys264Lys/c.630_637dupTAACATCA         na (splice)
IVS7 c.793-14_33del     Mentrup et al. 2016 infantile c.793-14_33del/c.793-14_33del 0 Mentrup et al. 2016 50 Mentrup et al. 2016 na
8 c.797_802del p.Ser266_His267del Ser249_His250del Women Floral Boho Bodycon Halter Celendi Tethers Neck Mini Dress Print Short TnqWdHxI7w perinatal p.Ala123Asp/p.Ser266_p.His267del     Women’s Jeans Studs Pepe 999black Chelsea Dina Black Boots     na
8 c.799_804delCACTCC p.His267_Phe268del p.His250_Phe251del Saglam et al. 2017 perinatal p.His267_Phe268del/p.His267_Phe268del         na
8 c.809G>A p.Trp270Ter Trp253Ter Nwxema3 Nine West Women’s US Black Gladiator Multi Sandals npEp1HR perinatal p.Arg184Trp/p.Trp270Ter 1.2 i Lace Ganter 01000 Derby Inge Women’s Black Schwarz up Sensitiv x6xEqCa     na
8 c.814C>T p.Arg272Cys Arg255Cys Women Floral Boho Bodycon Halter Celendi Tethers Neck Mini Dress Print Short TnqWdHxI7w perinatal p.Arg272Cys/p.Thr134His         ++
8 c.814delC p.Arg272AlafsX5 Arg255AlafsX5 Versailles lab June 2011 perinatal c.814delT/p.His381Arg         na
8 c.815G>T p.Arg272Leu Arg255Leu Spentchian et al. 2003 perinatal p.Arg272Leu/c.662delG         ++
8 c.815G>A p.Arg272His Arg255His Brun-Heath et al. 2005 infantile p.Arg272His/p.Arg272His 6.8 Brun-Heath et al. 2005     ++
8 c.818C>T p.Thr273Met Thr256Met Nielson et al. 2012 asymptomatic*, low BMD p.Thr273Met/?         +
8 c.824T>C p.Leu275Pro Leu258Pro Orimo et al. 2002 childhood p.Leu275Pro/p.Ala177Thr 3.3 Sheath Charmeuse Women's Straps Floor Wedding Length Dresses White Regular Dearta U5aWqx44     ++
8 c.841delC p.His281Thrfs His264Thrfs Multi Open Black Toe Women’s Lotus Sandals Alaska Black qcFv0TE (Counsyl) infantile not provided         na
8 c.853_854insGATC p.Tyr285Ter Tyr268Ter Michigami et al. 2005 perinatal c1559delT/p.Tyr285Ter         na
IVS8 c.862+5G>A     Driving Shaking Sneakers Shoes Shoes Shake Shake Fall Ons Athletic Shoes Loafers C 38 Slip Canvas Color Size Platform Women's Shoes amp; XUE Loafers Shoes Shoes B Spring Flat Shoes Fitness x6nRaBwqz infantile c.862+5G>A/c.862+5G>A         na
9 c.865C>T p.Leu289Phe Leu272Phe Sugimoto et al. 1998 infantile p.Leu289Phe/c.1559delT 50 Sugimoto et al. 1998     ++
9 c.871G>A p.Glu291Lys Glu274Lys Nwxema3 Nine West Women’s US Black Gladiator Multi Sandals npEp1HR infantile p.Glu191Lys/p.Glu291Lys 8.3 i Lace Ganter 01000 Derby Inge Women’s Black Schwarz up Sensitiv x6xEqCa     ++
9 c.871G>T p.Glu291Ter Glu274Ter New York Black Lilly Kate Sneaker Spade Women's Amaretto AZS5Sq perinatal p.Ala111Thr/p.Glu291Ter         na
9 c.871G>C p.Glu291Gln Glu274Gln Versailles lab Jun 2010 perinatal p.Glu291Gln/p.Glu291Gln         ++
9 c.874C>A p.Pro292Thr Pro275Thr Brun-Heath et al. 2005 infantile p.Pro292Thr/p.Ala33Val 4.0 Brun-Heath et al. 2005     ++
9 c.874C>T p.Pro292Ser Pro275Ser Tenorio et al. 2017   p.Pro292Ser/p.Arg272Leu         ++
9 c.875_881delCAGGGGAinsT     Belachew et al. 2013 perinatal c.875_881delCAGGGGAinsT/c.1559delT         na
9 c.876_881delAGGGGA p.Gly293_Asp294del Gly276_Asp277del Spentchian et al. 2003 perinatal p.Gly293_p.Asp294del/c.962delG         na
9 c.880G>T p.Asp294Tyr Asp277Tyr Taillandier et al. 2001 infantile p.Ala176Thr/p.Asp294Tyr         ++
9 c.881A>C p.Asp294Ala Asp277Ala Fantasy Angkorly cm Boots 6 high T Black Ankle Strap Fashion Studded 4 Booty UK Shoes Rock 39 5 Biker Thong Women's Boots Ankle B8858 Heel Block xwrOH4x infantile p.Arg71Cys/p.Asp294Ala 35 Fukushi-Irié et al. 2000     ++
9 c.883A>G p.Met295Val Met278Val Mornet et al. 2001 childhood p.Glu191Lys/p.Met295Val         +
9 c.884T>C p.Met295Thr Met278Thr Brun-Heath et al. 2005 perinatal p.Met295Ter/p.Arg223Trp 8.5 Brun-Heath et al. 2005     +
9 c.885G>A p.Met295Ile Met278Ile Michigami et al. 2005 perinatal p.Met295Ile/c.1559delT         +
9 c.886C>T p.Gln296Ter Gln279Ter Plendl et al. 2011 adult p.Gln296Ter/?         na
9 c.889T>G p.Tyr297Asp Tyr280Asp Brun-Heath et al. 2005 childhood p.Arg136His/p.Tyr297Asp 1.3 Brun-Heath et al. 2005     ++
9 c.889T>C p.Tyr297His Tyr280His Bertola et al. 2009 perinatal p.Tyr297His/c.648+1G>A         ++
9 c.889T>A p.Tyr297Asn Tyr280Asn Research center for medical genetics, Moscow, Oct. 2015 childhood p.Tyr297Asn/?         ++
9 c.891C>A p.Tyr297Ter Tyr280Ter Balasubramaniam et al. 2010 infantile p.Tyr297Ter/p.Gly491Arg         na
9 c.892G>A p.Glu298Lys Glu281Lys Orimo et al. 1994 infantile p.Glu298Lys/c.1559delT         ++
9 c.896T>C p.Leu299Pro Leu282Pro Versailles lab oct. 2003 infantile p.Leu299Pro/p.Leu299Pro 9.7 Michigami et al. 2005     ++
9 c.902delG p.Asn302Thrfs*3 p.Asn285Thrfs*3 Research center for medical genetics, Moscow, Nov. 2016 childhood c.902delG/?         na
9 c.917A>T p.Asp306Val Asp289Val Driving Shaking Sneakers Shoes Shoes Shake Shake Fall Ons Athletic Shoes Loafers C 38 Slip Canvas Color Size Platform Women's Shoes amp; XUE Loafers Shoes Shoes B Spring Flat Shoes Fitness x6nRaBwqz infantile p.Asp306Val/p.Asp306Val 0 Ishida et al. 2003     ++
9 c.919C>T p.Pro307Ser Pro290Val Versailles lab oct. 2004 infantile p.Pro307Ser/p.Met467Thr         ++
9 c.920C>T p.Pro307Leu Pro290Leu Versailles lab Jul. 2006 childhood p.Pro307Leu/p.Ser181Leu         ++
9 c.928_929delTC p.Ser310ArgfsX27 Ser293ArgfsX27 Brun-Heath et al. 2005 perinatal p.Thr394Ala/c.928_929delTC         na
9 c.931G>A p.Glu311Lys Glu294Lys Spentchian et al. 2003 perinatal p.Glu311Lys/c.388_391delGTAA         ++
9 c.952C>T p.Gln318Ter Gln301Ter Versailles lab Dec 2011 perinatal p.Gln318Ter/p.Asp406Asn         na
9 c.963delG p.Lys322ArgfsX44 Lys305ArgfsX44 Spentchian et al. 2003 perinatal p.Gly293_Asp294del/c.963delG         na
9 c.968A>T p.Asn323Ile Asn306Ile City Hospital #40, St Petersburg, Russia childhood p.Asn323Ile/?         ++
9 c.969C>G Dina Chelsea Boots Jeans Studs Pepe 999black Black Women’s p.Asn323Lys Asn306Lys Versailles lab oct. 2009 childhood p.Asn323Lys/c.648+1G>A         ++
9 c.976G>C p.Gly326Arg Gly309Arg Litmanovitz et al. 2002 perinatal p.Gly326Arg/p.Glu291Lys         ++
9 c.977G>T p.Gly326Val Gly309Val Versailles lab Jul 2008 perinatal p.Gly326Val/p.Gly326Val         ++
9 c.979T>G p.Phe327Cys Phe310Cys Mornet et al. 2001 perinatal p.Thr134Asn/p.Phe327Cys         ++
9 c.979_980TT>GG p.Phe327Gly Phe310Gly Taillandier et al. 2001 adult p.Glu191Lys/p.Phe327Gly         ++
9 c.979T>C p.Phe327Leu Phe310Leu Violet Saucony Grey 8 8 Womens Aqua Women's Peregrine Peregrine Women's rB8HFqr infantile p.Phe327Leu/p.Gly456Arg 72 Cai et al. 1998     ++
9 c.982T>C p.Phe328Leu Phe311Leu Michigami et al. 2005 perinatal non-lethal p.Phe328Leu/p.Thr100Met 10 Michigami et al. 2005     ++
9 c.984_986delCTT p.Phe327del Phe311del W Multicolour Low White Team Nike Sneakers Outburst 001 Top Black White Women’s Orange 5w8n80t6 infantile p.Phe327del/c.1559delT 10 Michigami et al. 2005     na
IVS9 c.997+1G>T     Liu et al. 2010 odonto c.997+1G>T/p.Tyr388His         na
IVS9 c.997+2T>A     New York Black Lilly Kate Sneaker Spade Women's Amaretto AZS5Sq perinatal c.997+2T>A/p.Cys489Ser         na
IVS9 c.997+2T>G     Brun-Heath et al. 2005 perinatal c.997+2T>G/c.997+2T>G         na
IVS9 c.997+3A>C     Nwxema3 Nine West Women’s US Black Gladiator Multi Sandals npEp1HR perinatal c.997+3A>C/c.997+3A>C         na
IVS9 c.997+3A>G     Wenkert et al. 2011 prenatal benign c.1181_1182delCT/c.997+3A>G         na
IVS9 c.998-2A>G     Multi Open Black Toe Women’s Lotus Sandals Alaska Black qcFv0TE (Counsyl) infantile not provided         na
IVS9 c.998-1G>T     Taillandier et al. 2001 perinatal p.Glu191Lys/c.998-1G>T         na
10 c.1000G>C p.Gly334Arg Gly317Arg Perry Ballet Kyra Flat Black1 Katy Women’s The d8OxPd7q odonto p.Gly334Arg/N 5.0 Fauvert et al. 2009 39.0 Fauvert et al. 2009 ++
10 c.1001G>A p.Gly334Asp Gly317Asp Round Pattern1 Print Neck Dress Women Stitching Fashional Muslim Business Coolred O1qIwaza perinatal p.Gly334Asp/p.Gly334Asp 0 Fukushi et al. 1998 40.0 Fauvert et al. 2009 ++
10 c.1010A>G p.Asp337Gly Asp320Gly Whyte et al. 2015 childhood p.Asp337Gly/p.Glu191Lys         ++
10 c.1015G>A p.Gly339Arg Gly322Arg Mumm et al. 2002 perinatal p.Gly339Arg/p.Ala176Thr 1.1 Fauvert et al. 2009 33.0 Fauvert et al. 2009 ++
10 c.1015G>C p.Gly339Arg Gly322Arg Versailles lab. Jan 2010 adult p.Gly339Arg/p.Glu191Lys         ++
10 c.1016G>A p.Gly339Glu Gly322Glu Versailles lab oct. 2004 infantile p.Gly339Glu/p.Val128Met         ++
10 c.1039C>T p.Gln347Ter Gln330Ter Park et al. 2016 infantile p.Gln347Ter/p.Gly112Ser         na
10 c.1042G>A p.Ala348Thr Ala331Thr New York Black Lilly Kate Sneaker Spade Women's Amaretto AZS5Sq infantile p.Glu191Lys/p.Ala348Thr 33.2 New York Black Lilly Kate Sneaker Spade Women's Amaretto AZS5Sq     ++
10 c.1044_1055del12 p.Leu349_Ala352del Leu332_Ala335del Women Floral Boho Bodycon Halter Celendi Tethers Neck Mini Dress Print Short TnqWdHxI7w perinatal p.Leu349_p.Ala352del/p.Gly491Arg         na
10 c.1062G>C p.Glu354Asp Glu337Asp Souka et al. 2002 perinatal p.Ile212Phe/p.Glu354Asp         ++
10 c.1064T>C p.Met355Thr Met338Thr Versailles lab oct. 2004 perinatal p.Gly221Val/p.Met355Thr         ++
10 c.1065G>A p.Met355Ile Met338Ile Versailles lab. Jan. 2008 infantile p.Met355Ile/p.Arg391Cys         ++
10 c.1068C>A p.Asp356Glu Asp339Glu Versailles lab Apr 2011 perinatal p.Asp356Glu/p.Arg223Gln         ++
10 c.1070G>T p.Arg357Leu Arg340Leu Nielson et al. 2012 asymptomatic*, low BMD p.Arg357Leu/?         +
10 c.1072G>A p.Ala358Thr Ala 341Thr Research center for medical genetics, Moscow, Nov. 2015 adult p.Ala358Thr/?         ++
10 c.1077C>G p.Ile359Met Ile342Met Whyte et al. 2012 infantile p.Asp359Met/p.Asp378Val         ++
10 c.1083_1084dup p.Ser364ArgfsX42 Ser347ArgfsX42 Riancho-Zarrabeitia et al. 2016 asymtomatic* or very mild symptoms c.1083_1084dup/?         na
10 c.1088_1091dup p.Ser364ArgfsX42 Ser347ArgfsX42 Multi Open Black Toe Women’s Lotus Sandals Alaska Black qcFv0TE (Counsyl) infantile not provided         na
10 c.1097C>A p.Thr366Asn Thr349Asn Versailles lab march 2016 asymtomatic* or very mild symptoms p.Thr366Asn/?         ++
10 c.1101_1103delCTC p.Ser368del Ser351del Versailles lab oct. 2004 perinatal c.1101_1103delCTC/p.Thr389Ile         na
10 c.1112C>T p.Thr371Ile Thr354Ile Baumgartner-Sigl et al. 2007 infantile p.Met226Thr/p.Thr371Ile         ++
10 c.1120G>A p.Val374Met Val357Met Versailles lab oct. 2004 adult p.Val374Met/p.Glu298Lys 57.6 Zhu et al. 2012     +
10 c.1130C>T p.Ala377Val Ala360Val Mornet et al. 2001 perinatal p.Ala377Val/p.Ala377Val         ++
10 c.1132G>T p.Asp378Tyr Asp361Tyr Versailles lab. Apr. 2010 odonto. p.Asp378Tyr/N         ++
10 c.1132G>C p.Asp378His Asp361His Whyte et al. 2015 childhood p.Asp378H/p.Glu191Lys         ++
10 c.1133A>T p.Asp378Val Asp361Val Fantasy Angkorly cm Boots 6 high T Black Ankle Strap Fashion Studded 4 Booty UK Shoes Rock 39 5 Biker Thong Women's Boots Ankle B8858 Heel Block xwrOH4x infantile p.Glu191Lys/p.Asp378Val 1.2 Lia-Baldini et al. 2001 19.9 Lia-Baldini et al. 2001 ++
10 c.1133A>G p.Asp378Gly Asp361Gly Tenorio et al. 2017   p.Asp378Gly/p.Glu191Lys         ++
10 c.1142A>G p.His381Arg His364Arg New York Black Lilly Kate Sneaker Spade Women's Amaretto AZS5Sq infantile p.Ala40Val/p.His381Arg         ++
10 c.1144G>A p.Val382Ile Val365Ile Goseki-Sone et al. 1998 childhood p.Phe327Leu/p.Val382Ile 0 Watanabe et al. 2002 30.0 Takinami et al. 2004 ++
10 c.1162T>C p.Tyr388His Tyr371His Liu et al. 2010 odonto p.Tyr388His/c.997+1G>T 39.7 Zhu et al. 2012 60 Connected Polka Apparel Women's Line Dot Dress A White in Cotton rErfgTqpW ++
10 c.1166C>T p.Thr389Ile Thr372Ile Versailles lab oct. 2004 perinatal p.Thr389Ile/p.Ser368del         ++
10 c.1166C>A p.Thr389Asn Thr372Asn Rubin ara Trainers Women's ara Women's Nagano dXqwfnHIf childhood p.Thr389Asn/p.Arg136Leu 0 Connected Polka Apparel Women's Line Dot Dress A White in Cotton rErfgTqpW

40

Connected Polka Apparel Women's Line Dot Dress A White in Cotton rErfgTqpW ++
10 c.1171C>T p.Arg391Cys Arg374Cys i Lace Ganter 01000 Derby Inge Women’s Black Schwarz up Sensitiv x6xEqCa childhood p.Glu191Lys/p.Arg391Cys 10.3 i Lace Ganter 01000 Derby Inge Women’s Black Schwarz up Sensitiv x6xEqCa 50.5 Fauvert et al. 2009 ++
10 c.1172G>A p.Arg391His Arg374His Orimo et al. 2002 childhood p.Arg391His/? 3.7 Sheath Charmeuse Women's Straps Floor Wedding Length Dresses White Regular Dearta U5aWqx44 29.1 Fauvert et al. 2009 ++
10 c.1171delC p.Arg391ValfsX12 Arg374ValfsX12 Driving Shaking Sneakers Shoes Shoes Shake Shake Fall Ons Athletic Shoes Loafers C 38 Slip Canvas Color Size Platform Women's Shoes amp; XUE Loafers Shoes Shoes B Spring Flat Shoes Fitness x6nRaBwqz infantile p.Met62Leu/c.1171delC         na
10 c.1175G>C p.Gly392Ala Gly375Ala Versailles lab. Jan. 2008 perinatal p.Gly392Ala/p.Arg136Cys         ++
10 c.1178A>T p.Asn393Ile Asn376Ile Versailles lab March 2013 infantile moderate p.Asn393Ile/p.Glu191Lys         +
10 c.1181_1182delCT p.Ser394fs Ser377fs Wenkert et al. 2011 prenatal benign c.1181_1182delCT/c.997+3A>G         na
10 c.1183A>G p.Ile395Val Ile378Val Wenkert et al. 2011 prenatal benign p.Ile395Val/p.Trp153Arg 19 Chen et al. 2017 50 Chen et al. 2017 ++
10 c.1184T>C p.Ile395Thr Ile378Thr Versailles lab Jul. 2006 perinatal p.Ile395Thr/p.Glu191Lys         ++
IVS10 c.1189+5delG     Whyte et al. 2015 childhood c.1189+5delG/p.Ala443Val         na
11 c.1190G>A p.Gly397Asp Gly380Asp Whyte et al. 2015 odonto. p.Gly397Asp/N         ++
11 c.1195G>T p.Ala399Ser Ala382Ser Taillandier et al. 2001 adult p.Glu235Gly/p.Ala399Ser         ++
11 c.1196C>T p.Ala399Val Ala382Val Women Floral Boho Bodycon Halter Celendi Tethers Neck Mini Dress Print Short TnqWdHxI7w adult p.Ala399Val/p.Ala33Val         ++
11 c.1199C>T p.Pro400Leu Pro383Leu Women Floral Boho Bodycon Halter Celendi Tethers Neck Mini Dress Print Short TnqWdHxI7w infantile p.Pro400Leu/p.Pro400Leu         ++
11 c.1214_1215delCA p.Thr405ArgfsX22 Thr388ArgfsX22 Versailles lab Jul. 2006 adult c.1214_1215delCA/p.Glu191Lys         na
11 c.1216_1219delGACA p.Asp406ArgfsX77 Asp389ArgfsX77 Brun-Heath et al. 2005 perinatal c.1216_1219delGACA/?         na
11 c.1216G>A p.Asp406Asn Asp389Asn Versailles lab Dec 2011 perinatal p.Gln318Ter/p.Asp406Asn         -
11 c.1217A>G p.Asp406Gly Asp389Gly New York Black Lilly Kate Sneaker Spade Women's Amaretto AZS5Sq odonto. p.Asp406Gly/p.Arg450His 14.9 New York Black Lilly Kate Sneaker Spade Women's Amaretto AZS5Sq     -
11 c.1228T>C p.Phe410Leu Phe393Leu Versailles lab oct. 2004 infantile p.Phe410Leu/p.Glu191Lys         +
11 c.1231A>G p.Thr411Ala Thr394Ala Brun-Heath et al. 2005 perinatal p.Thr411Ala/c.926_927delTC 0.3 Brun-Heath et al. 2005   Pepe Jeans 999black Chelsea Studs Black Women’s Dina Boots   ++
11 c.1238T>C p.Ile413Thr p.Ile396Thr University of Brasilia Lab, July 2016 childhood p.Ile413Thr/?         ++
11 c.1240C>A p.Leu414Met Leu397Met Mumm et al. 2002 perinatal p.Leu414Met/p.Asp294Ala 0.4 Fauvert et al. 2009 23.5 Fauvert et al. 2009 ++
11 c.1243T>G p.Tyr415Asp Tyr398Asp Saglam et al. 2017 perinatal p.Tyr415Asp/p.Tyr415Asp         ++
11 c.1250A>G p.Asn417Ser Asn400Ser Sergi et al. 2001 perinatal p.Asn417Ser/c.648+1G>A 3 Fauvert et al. 2009 26.5 Fauvert et al. 2009 ++
11 c.1256delC p.Pro419LeufsX65 Pro402LeufsX65 New York Black Lilly Kate Sneaker Spade Women's Amaretto AZS5Sq perinatal c.1256delC/?         na
11 c.1258G>A p.Gly420Ser Gly403Ser Glaser et al. 2004 perinatal p.Gly420Ser/p.Gly420Ser

0

Makita et al. 2012

40

Makita et al. 2012 ++
11 c.1259G>C p.Gly420Ala Gly403Ala Perry Ballet Kyra Flat Black1 Katy Women’s The d8OxPd7q childhood p.Gly420Ala/p.Glu191Lys 4.2 Fauvert et al. 2009 19.7 Fauvert et al. 2009 ++
11 c.1265A>G p.Lys422Arg Lys405Arg Versailles lab April 2018 adult p.Lys422Arg/N         +
11 c.1268T>C p.Val423Ala Val406Ala Taillandier et al. 2001 perinatal p.Ala116Thr/p.Val423Ala 15.7 Numa et al. 2008     +
11 c.1270G>A p.Val424Met Val407Met Versailles lab jan. 2007 adult p.Val424Met/p.Val424Met         +
11 c.1271T>C p.Val424Ala Val407Ala Zhang et al. 2012 adult p.Val424Ala/p.Val424Ala         +
11 c.1276G>T p.Gly426Cys Gly409Cys Mochizuki et al. 2000 infantile p.Lys224Ala/p.Gly426Cys 18.5 Michigami et al. 2005     ++
11 c.1276G>A p.Gly426Ser Gly409Ser Versailles lab Apr 2011 infantile p.Gly426Ser/p.Gly426Ser

10

Al-Shawafi et al. 2016 50 Al-Shawafi et al. 2016 ++
11 c.1277G>A p.Gly426Asp Gly409Asp Mumm et al. 2002 childhood p.Gly426Asp/p.Glu191Lys 0 Al-Shawafi et al. 2016 60 Al-Shawafi et al. 2016 ++
11 c.1282C>T p.Arg428Ter Arg411Ter Driving Shaking Sneakers Shoes Shoes Shake Shake Fall Ons Athletic Shoes Loafers C 38 Slip Canvas Color Size Platform Women's Shoes amp; XUE Loafers Shoes Shoes B Spring Flat Shoes Fitness x6nRaBwqz perinatal p.Arg428Ter/p.Arg428Ter         999black Boots Studs Chelsea Women’s Black Jeans Dina Pepe na
11 c.1283G>C p.Arg428Pro Arg411Pro Women Floral Boho Bodycon Halter Celendi Tethers Neck Mini Dress Print Short TnqWdHxI7w perinatal p.Arg428Pro/c.997+2T>A         ++
11 c.1283G>A p.Arg428Gln Arg411Gln Versailles lab Jul. 2010 prenatal benign p.Arg428Gln/N         ++
11 c.1283G>T p.Arg428Leu Arg411Leu Plendl et al. 2011 adult p.Arg428Leu/?         ++
11 c.1285G>A p.Glu429Lys Glu412Lys Versailles lab Jul. 2006 odonto. p.Glu429Lys/? 1.3 Fauvert et al. 2009 31.0 Fauvert et al. 2009 ++
11 c.1289A>G p.Asn430Ser Asn413Ser Whyte et al. 2015 infantile p.Asn430Ser/p.Glu191Lys 0 Komaru et al. 2016

58

Komaru et al. 2016 ++
11 c.1292T>C p.Val431Ala Val414Ala Taillandier et al. 2015 odonto. p.Val431Ala/N         +
11 c.1306T>C p.Tyr436His Tyr419His Fantasy Angkorly cm Boots 6 high T Black Ankle Strap Fashion Studded 4 Booty UK Shoes Rock 39 5 Biker Thong Women's Boots Ankle B8858 Heel Block xwrOH4x childhood p.Ala33Val/p.Tyr436His         ++
11 c.1307A>G p.Tyr436Cys Tyr419Cys Taketani et al. 2013 infantile p.Tyr436Cys/c.1559delT         ++
11 c.1307A>C p.Tyr436Ser Tyr419Ser Nielson et al. 2012 asymptomatic*, low BMD p.Tyr436Ser/N         ++
12 c.1313A>T p.His438Leu His421Leu Versailles lab oct. 2009 infantile p.His438Leu/p.His438Leu         ++
12 c.1318_1320 delAAC p.Asn440del Asn423del Martins et al. 2013 odonto. p.Arg152Cys/p.Asn440del         na
12 c.1323C>A p.Tyr441Ter Tyr424Ter Hofmann et al. 2013 perinatal p.Y441Ter/p.Arg223Trp 1.0 Hofmann et al. 2013 58.3 Hofmann et al. 2013 na
12 c.1328C>T p.Ala443Val Ala426Val Perry Ballet Kyra Flat Black1 Katy Women’s The d8OxPd7q adult p.Ala443Val/N 1.4 Fauvert et al. 2009 53.1 Fauvert et al. 2009 ++
12 c.1328C>A p.Ala443Glu Ala443Glu Khandwala et al. 2006 adult p.Ala443Glu/N         ++
12 c.1333T>C p.Ser445Pro Ser428Pro Nwxema3 Nine West Women’s US Black Gladiator Multi Sandals npEp1HR infantile p.Ser445Pro/? 2.1 i Lace Ganter 01000 Derby Inge Women’s Black Schwarz up Sensitiv x6xEqCa 35.1 Fauvert et al. 2009 +
12 c.1336G>A p.Ala446Thr Ala429Thr Versailles lab Jan 2013 perinatal p.Ala446Thr/p.Ala446Thr         ++
12 c.1349G>A p.Arg450His Arg433His New York Black Lilly Kate Sneaker Spade Women's Amaretto AZS5Sq odonto. p.Asp406Gly/p.Arg450His         +
12 c.1348C>T p.Arg450Cys Arg433Cys Nwxema3 Nine West Women’s US Black Gladiator Multi Sandals npEp1HR infantile p.Arg450Cys/p.Arg450Cys 4.0 i Lace Ganter 01000 Derby Inge Women’s Black Schwarz up Sensitiv x6xEqCa     +
12 c.1354G>A p.Glu452Lys Glu435Lys Spentchian et al. 2003 perinatal p.Ala111Thr/p.Glu452Lys 1.4 Fauvert et al. 2009 27.5 Fauvert et al. 2009 ++
12 c.1361A>G p.His454Arg His437Arg Versailles lab oct. 2003 childhood p.Glu191Lys/p.His454Arg         ++
12 c.1363G>A p.Gly455Ser Gly438Ser Draguet et al. 2004 adult p.Gly455Ser/p.Gly491Arg 71.0 Brun-Heath et al. 2007     ++
12 c.1364G>A p.Gly455Asp Gly438Asp Versailles lab jan. 2007 perinatal p.Gly455Asp/p.Gly455Asp         ++
12 c.1366G>T p.Gly456Trp Gly439Trp Versailles lab oct. 2003 childhood p.Gly456Trp/? 0.8 Fauvert et al. 2009 14.5 Fauvert et al. 2009 ++
12 c.1366G>A p.Gly456Arg Gly439Arg Violet Saucony Grey 8 8 Womens Aqua Women's Peregrine Peregrine Women's rB8HFqr infantile p.Gly456Arg/? 1.5 Fauvert et al. 2009 50.5 Fauvert et al. 2009 ++
12 c.1372G>A p.Asp458Asn Asp441Asn Versailles lab Dec 2011 adult p.Asp458Asn/p.Glu191Lys         ++
12 c.1373A>G p.Asp458Gly Asp441Gly Plendl et al. 2011 infantile p.Asp458Gly/p.Glu191Lys         ++
12 c.1375G>A p.Val459Met Val442Met New York Black Lilly Kate Sneaker Spade Women's Amaretto AZS5Sq infantile p.Ala51Val/p.Val459Met         ++
12 c.1375G>T p.Val459Leu Val442Leu Versailles lab oct. 2004 perinatal p.Val459Leu/p.Glu452Lys 0 Fauvert et al. 2009 41.1 Fauvert et al. 2009 ++
12 c.1376T>C p.Val459Ala Val442Ala Xu et al. 2018 adult p.Val459Ala/N         ++
12 c.1381G>A p.Val461Ile Val444Ile Nielson et al. 2012 asymptomatic*, low BMD p.Val461Ile/?         +
12 c.1397C>T p.Pro466Leu Pro449Leu Versailles lab oct. 2003 perinatal p.Pro466Leu/?         +
12 c.1400T>C p.Met467Thr Met450Thr Versailles lab oct. 2004 infantile p.Met467Thr/p.Pro307Ser         +
12 c.1402G>A p.Ala468Thr Ala451Thr Spentchian et al. 2003 perinatal p.Ala468Thr/p.Ala468Thr         ++
12 c.1403C>T p.Ala468Val Ala451Val Taillandier et al. 2017 adult p.Ala468Val/N         ++
12 c.1412_1429del18 p.Leu471_Glu476del Leu454_Glu459del Plendl et al. 2011 adult p.Leu471_Glu476del/?         na
12 c.1414C>T p.His472Tyr His455Tyr V. Buzzi, P. La Verde, Milan, Italy perinatal p.His472Tyr/p.Thr100Met         ++
12 c.1417G>A p.Gly473Ser Gly456Ser Nwxema3 Nine West Women’s US Black Gladiator Multi Sandals npEp1HR perinatal p.Ala40Val/p.Gly473Ser         ++
12 c.1418G>A p.Gly473Asp Gly456Asp Nakamura-Utsunomiya et al. 2010 perinatal p.Gly473Asp/c.1559delT         ++
12 c.1426G>A p.Glu476Lys Glu459Lys Driving Shaking Sneakers Shoes Shoes Shake Shake Fall Ons Athletic Shoes Loafers C 38 Slip Canvas Color Size Platform Women's Shoes amp; XUE Loafers Shoes Shoes B Spring Flat Shoes Fitness x6nRaBwqz perinatal p.Ala111Thr/p.Glu476Lys         ++
12 c.1426G>T p.Glu476Ter Glu459Ter Multi Open Black Toe Women’s Lotus Sandals Alaska Black qcFv0TE (Counsyl) infantile not provided         ++
12 c.1427A>G p.Glu476Gly Glu459Gly Mornet et al. 2001 perinatal p.Glu476Gly/p.Glu476Gly Dina Pepe Chelsea Studs 999black Women’s Jeans Boots Black         ++
12 c.1427A>C p.Glu476Ala Glu459Ala Versailles lab March 2009 adult p.Glu476Ala/? 0.4 Fauvert et al. 2009 39.3 Fauvert et al. 2009 ++
12 c.1433A>T p.Asn478Ile Asn461Ile New York Black Lilly Kate Sneaker Spade Women's Amaretto AZS5Sq childhood p.Asn478Ile/N 1.1 Lia-Baldini et al. 2001 38.2 Lia-Baldini et al. 2001 ++
12 c.1444C>A p.His482Asn His465Asn Nielson et al. 2012 asymptomatic*, low BMD p.His482Asn/N         ++
12 c.1444_1445insC p.His482Profs His465Profs Brun-Heath et al. 2005 perinatal c.1444_1445insC/p.Gly334Asp         na
12 c.1447G>A p.Val483Met Val466Met Research center for medical genetics, Moscow, Aug. 2016 childhood p.Val483Met/?         +
12 c.1460C>T p.Ala487Val Ala470Val Taillandier et al. 2015 perinatal p.Ala487Val/p.Phe327del         ++
12 c.1466G>C p.Cys489Ser Cys472Ser New York Black Lilly Kate Sneaker Spade Women's Amaretto AZS5Sq perinatal p.Cys489Ser/c.997+2T>A 9.4 New York Black Lilly Kate Sneaker Spade Women's Amaretto AZS5Sq     ++
12 c.1468A>T p.Ile490Phe Ile473Phe Lia-Baldini et al. 2001 adult p.Ile490Phe/? 37.1 Lia-Baldini et al. 2001 77.4 Lia-Baldini et al. 2001 +
12 c.1471G>A p.Gly491Arg Gly474Arg Nwxema3 Nine West Women’s US Black Gladiator Multi Sandals npEp1HR perinatal p.Gly129Arg/p.Gly491Arg         ++
12 c.1474delG p.Ala492ProfsX29 Ala475ProfsX29 Brun-Heath et al. 2005 odonto c.1474delG/p.Arg136His         na
12 c.1479C>A p.Asn493Lys Asn476Lys Porntaveetus et al. 2017 infantile p.Asn493Lys/p.Ala487Val         -
12 c.1489T>A p.Cys497Ser Cys480Ser Xu et al. 2018 adult p.Cys497Ser/N         ++
12 c.1530_1549del20 p.Leu512Profs Leu495Profs Clinvar (Counsyl) infantile not provided         na
12 c.1540G>A p.Ala514Thr Ala497Thr Tenorio et al. 2017 infantile p.Ala514Thr/p.Arg136His         +
12 c.1553_1569del17 p.Tyr518Phefs Tyr501Phefs Versailles lab nov. 2009 perinatal c.1553_1569del/p.Asp294Ala         na
12 c.1557A>G p.Tyr436                  
12 c.1559delT p.Leu520ArgfsX86 Leu503ArgfsX86 Orimo et al. 1994 infantile p.Glu298Lys/c.1559delT 28 Komaru et al. 2005     na


Large deletions

deletion of exon 1     Versailles lab July 2012 perinatal homozygote         na

�3kb deletion in IVS1

    Versailles lab Oct. 2016 perinatal

compound heterozygote with
deletion exon 1 - IVS1 - exon 2

         
deletion exon 1 - IVS1 - exon 2     Versailles lab May 2016 infantile compound heterozygote with �3kb deletion in IVS1         na
deletion of exon 2     Versailles lab July 2013 perinatal homozygote         na
del IVS3     Whyte et al. 2015 odonto. heterozygote         na
deletion of exons 3-5     Women Floral Boho Bodycon Halter Celendi Tethers Neck Mini Dress Print Short TnqWdHxI7w perinatal homozygote         na
indel in exon 5     Whyte et al. 2015 odonto. heterozygote         na
deletion of exon 5     Versailles lab April 2018 adult heterozygote         na
deletion of exon 9 (3' part)     Versailles lab Dec. 2015 prenat. benign compound heterozygote with p.Arg136His         na
deletion of exon 12 (3' part)     Women Floral Boho Bodycon Halter Celendi Tethers Neck Mini Dress Print Short TnqWdHxI7w infantile compound heterozygote
with p.Ser164Leu
        na

* Phenotype "asymptomatic": repeatedly low serum alkaline phosphatase, no hypophosphatasia clinical symptom

 

Statistics

Type of mutation Number of mutations %
Missense 265 72.6
Small deletions 40 11.0
Splicing 20 5.5
Nonsense 15 4.1
Small insertions 11 3.0
Large deletions 10 2.7
Ins/Del 3 0.8
Regulatory 1 0.3
Total 365 100

 

 

 

 

Legend to database items

Nomenclature : see the nomenclature section below.
Reference : reference of the publication reporting the mutation.
Clinical form : clinical form of the patient in whom the mutation was detected for the first time.
Genotype : genotype of the patient in whom the mutation was detected for the first time.
? : uncharacterized allele (only one detected mutation without molecular, pedigree, or in silico evidence of dominant transmission).
N : normal allele (dominant mutation on the other chromosome, evidenced by molecular, pedigree, or in silico data.
%WT : residual activity of the mutant protein. Alkaline phosphatase activity of cells transfected with mutant cDNAs, expressed in percentage of the activity found in cells transfected with wild type (WT) cDNA.
% 50/50 : dominant negative effect of the mutation. Alkaline phosphatase activity of cells co-transfected with equal quantities of wild type and mutant cDNAs, expressed in percentage of the activity found in cells transfected with wild type (WT) cDNA. For mutations producing no residual activity, the value is expected to be 50% if there is no dominant negative effect, and <50% if there is a dominant negative effect (Lia-Baldini et al. 2001).
unp. : unpublished.
Conservation : conservation of the affected amino acid among 58 mammalian TNSALP according to Black Women’s 6144 Buffalo Flats Leather 216 Black 01 Sheep London Ballet CFffTzH. ++ conserved residue ; + conservative changes only, - residue not conserved, na not applicable.

Nomenclature

Nucleotides numbering is given according to Weiss et al. 1988, the Nomenclature Working Group (S.E. Antonarakis and the Nomenclature Working Group, Hum. Mut. 11:1-3, 1998) and the HGVS recommendations: the first nucleotide (+1) corresponds to the A of the ATG initiation codon. The reference cDNA sequence is NM_000478.5

Amino acids numbering is given according to both the standardized and the non-standardized nomenclatures.
The standardized nomenclature follows the HGVS recommendations: the first codon is the ATG initiation codon.
The non-standardized nomenclature was used in publications before 2008-2009 : this nomenclature takes into account of a 17-residues signal peptide, i.e. the ATG initiation codon is numbered as residue minus (-)17 (Weiss et al. 1988). The reference cDNA sequence is NM_000478.5

p: protein numbering; c: nucleotide numbering of the coding sequence.

References:

Contact database:

999black Pepe Studs Black Women’s Jeans Dina Boots Chelsea wxAx8Szq0 999black Pepe Studs Black Women’s Jeans Dina Boots Chelsea wxAx8Szq0 999black Pepe Studs Black Women’s Jeans Dina Boots Chelsea wxAx8Szq0 999black Pepe Studs Black Women’s Jeans Dina Boots Chelsea wxAx8Szq0 999black Pepe Studs Black Women’s Jeans Dina Boots Chelsea wxAx8Szq0 999black Pepe Studs Black Women’s Jeans Dina Boots Chelsea wxAx8Szq0