*-allele | dbSNP ID | Location | Nucleotide Change | Amino Acid Change | Enzyme Activity | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Variant Allele Frequency | In Silico Prediction | ||||||||||||
African | European | South Asian | East Asian | American | SIFT | PolyPhen | In Vivo | In Vitro | |||||
rs142470035 | Exon 1 | c.1A>G | p.Met1? | 0.0045 | 0 | 0 | 0 | 0 | deleterious | probably damaging | |||
rs373001219 | Exon 1 | c.7C>A | p.Pro3Thr | — | — | — | — | — | tolerated | benign | |||
rs530027098 | Exon 1 | c.40A>T | p.Met14Leu | 0 | 0 | 0.001 | 0 | 0 | tolerated | benign | |||
rs202131138 | Exon 1 | c.63A>T | p.Arg21Ser | — | — | — | — | — | deleterious | benign | |||
rs267602643 | Exon 1 | c.77G>A | p.Arg26Lys | — | — | — | — | — | tolerated | benign | |||
rs375170154 | Exon 1 | c.149T>C | p.Ile50Thr | — | — | — | — | — | tolerated | benign | |||
rs113939225 | Exon 1 | c.167A>G | p.Asn56Ser | — | — | — | — | — | tolerated | benign | ↔ | ||
rs376132046 | Exon 2 | c.199G>A | p.Val67Met | — | — | — | — | — | deleterious | possibly damaging | |||
rs17851796 | Exon 2 | c.244G>A | p.Ala82Thr | 0 | 0 | 0 | 0.001 | 0 | deleterious | benign | |||
rs17851796 | Exon 2 | c.244G>T | p.Ala82Ser | 0 | 0 | 0 | 0.001 | 0 | deleterious | benign | |||
rs201449274 | Exon 2 | c.263T>C | p.Ile88Thr | 0 | 0 | 0 | 0 | 0.0014 | deleterious | benign | |||
rs372299895 | Exon 2 | c.268A>G | p.Asn90Asp | — | — | — | — | — | tolerated | benign | |||
rs578254206 | Exon 2 | c.293G>T | p.Gly98Val | 0 | 0 | 0.001 | 0 | 0 | deleterious | probably damaging | |||
rs199931273 | Intron 2 | c.331+2T>C | — | — | — | — | — | — | — | ||||
rs369552457 | Exon 3 | c.345C>A | p.Ser115Arg | — | — | — | — | — | deleterious | probably damaging | |||
rs201739495 | Exon 3 | c.368T>A | p.Ile123Asn | — | — | — | — | — | deleterious | possibly damaging | |||
rs377386087 | Exon 3 | c.370C>T | p.Arg124Trp | — | — | — | — | — | deleterious | probably damaging | |||
rs369591911 | Exon 3 | c.371G>A | p.Arg124Gln | — | — | — | — | — | deleterious | probably damaging | |||
rs188111115 | Exon 3 | c.373C>T | p.Arg125Cys | 0.0008 | 0 | 0 | 0 | 0 | deleterious | possibly damaging | |||
rs139650638 | Exon 3 | c.389C>A | p.Thr130Asn | 0 | 0 | 0.001 | 0 | 0 | deleterious | possibly damaging | |||
rs139650638 | Exon 3 | c.389C>T | p.Thr130Ile | 0 | 0 | 0.001 | 0 | 0 | tolerated | probably damaging | |||
*3 | rs11572080 | Exon 3 | c.416G>A | p.Arg139Lys | 0.0083 | 0.1183 | 0.0297 | 0.001 | 0.0994 | tolerated | benign | ↑ | ↓↑ |
rs540288649 | Exon 3 | c.430C>G | p.Arg144Gly | 0 | 0 | 0.0102 | 0 | 0 | deleterious | probably damaging | |||
rs200057634 | Exon 3 | c.449A>G | p.His150Arg | — | — | — | — | — | tolerated | benign | |||
rs201561213 | Exon 3 | c.472A>G | p.Lys158Glu | — | — | — | — | — | deleterious | benign | |||
*5 | rs72558196 | Exon 3 | c.475delA | p.Thr159ProfsTer19 | — | — | — | — | — | — | — | none | |
rs576554998 | Exon 4 | c.497C>T | p.Pro166Leu | — | — | — | — | — | deleterious | probably damaging | |||
*6 | rs142886225 | Exon 4 | c.511G>A | p.Gly171Ser | 0 | 0 | 0 | 0.006 | 0 | tolerated | benign | ↔ | |
rs553407481 | Exon 4 | c.516T>A | p.Cys172Ter | — | — | — | — | — | — | — | |||
rs141350682 | Exon 4 | c.525C>A | p.Cys175Ter | — | — | — | — | — | — | — | |||
rs113008582 | Exon 4 | c.526A>G | p.Asn176Asp | — | — | — | — | — | deleterious | probably damaging | |||
rs201219972 | Exon 4 | c.536G>C | p.Cys179Ser | — | — | — | — | — | tolerated | possibly damaging | |||
rs41286886 | Exon 4 | c.541G>A | p.Val181Ile | 0 | 0.0109 | 0 | 0 | 0.0029 | tolerated | benign | |||
rs147150224 | Exon 4 | c.544G>A | p.Val182Ile | — | — | — | — | — | tolerated | benign | |||
*7 | rs72558195 | Exon 4 | c.556C>T | p.Arg186Ter | — | — | — | — | — | — | — | none | |
*8 | rs543793530 | Exon 4 | c.557G>A | p.Arg186Gln | 0 | 0 | 0.001 | 0 | 0 | deleterious | probably damaging | ↓ | |
rs201899315 | Exon 4 | c.581T>A | p.Phe194Tyr | — | — | — | — | — | deleterious | benign | |||
rs201045618 | Exon 4 | c.602T>A | p.Phe201Tyr | 0 | 0 | 0 | 0.001 | 0 | deleterious | possibly damaging | |||
rs146962089 | Exon 4 | c.635G>A | p.Trp212Ter | 0.0023 | 0 | 0 | 0 | 0 | — | — | |||
rs148974310 | Exon 5 | c.643G>A | p.Val215Ile | — | — | — | — | — | tolerated | benign | |||
*13 | N.A. | Exon 5 | c.669T>G | p.Ile223Met | — | — | — | — | — | tolerated | benign | ↔ | |
rs569886323 | Exon 5 | c.703A>G | p.Lys235Glu | 0 | 0 | 0 | 0.001 | 0 | tolerated | benign | |||
*14 | rs188934928 | Exon 5 | c.712G>C | p.Ala238Pro | 0 | 0 | 0 | 0.001 | 0 | tolerated | benign | ↓ | |
rs537006401 | Exon 5 | c.713C>T | p.Ala238Val | — | — | — | — | — | tolerated | benign | |||
rs200358471 | Exon 5 | c.716T>C | p.Leu239Pro | — | — | — | — | — | tolerated | benign | |||
rs536085663 | Exon 5 | c.721C>T | p.Arg241Ter | 0.0008 | 0 | 0 | 0 | 0 | — | — | |||
rs11572102 | Exon 5 | c.730A>G | p.Ile244Val | 0.0068 | 0 | 0 | 0 | 0 | tolerated | benign | |||
*9 | N.A. | Exon 5 | c.740A>G | p.Lys247Arg | — | — | — | — | — | tolerated | benign | ↔ | |
rs141120323 | Exon 5 | c.767A>G | p.Asp256Gly | — | — | — | — | — | deleterious | probably damaging | |||
rs527793637 | Exon 5 | c.781C>T | p.Arg261Trp | 0 | 0 | 0.001 | 0 | 0 | deleterious | benign | |||
rs370459834 | Exon 5 | c.782G>T | p.Arg261Leu | — | — | — | — | — | deleterious | benign | |||
*4 | rs1058930 | Exon 5 | c.792C>G | p.Ile264Met | 0.0038 | 0.0577 | 0.0072 | 0 | 0.0187 | deleterious | probably damaging | ↓↑ | |
rs551515028 | Exon 5 | c.793G>A | p.Asp265Asn | 0.0008 | 0 | 0 | 0 | 0 | deleterious | probably damaging | |||
rs377675927 | Exon 5 | c.797G>T | p.Cys266Phe | — | — | — | — | — | deleterious | probably damaging | |||
*2 | rs11572103 | Exon 5 | c.805A>T | p.Ile269Phe | 0.1891 | 0.004 | 0.0123 | 0 | 0.0115 | deleterious | probably damaging | ↓↔ | |
rs373613215 | Exon 5 | c.816G>C | p.Glu272Asp | — | — | — | — | — | tolerated | benign | |||
*11 | rs78637571 | Exon 6 | c.820G>T | p.Glu274Ter | 0 | 0 | 0 | 0.003 | 0 | — | — | none | |
rs140599093 | Exon 6 | c.821A>G | p.Glu274Gly | — | — | — | — | — | deleterious | benign | |||
rs370806022 | Exon 6 | c.848A>G | p.Asn283Ser | — | — | — | — | — | tolerated | benign | |||
rs537326361 | Exon 6 | c.955G>A | p.Val319Ile | 0 | 0 | 0 | 0 | 0.0014 | tolerated | benign | |||
rs146806199 | Exon 7 | c.992T>C | p.Ile331Thr | 0.0015 | 0 | 0.0041 | 0 | 0 | deleterious | probably damaging | |||
rs148442781 | Exon 7 | c.1028G>T | p.Ser343Ile | — | — | — | — | — | tolerated | benign | |||
rs199691080 | Exon 7 | c.1060G>A | p.Glu354Lys | — | — | — | — | — | deleterious | probably damaging | |||
rs373461548 | Exon 7 | c.1063A>T | p.Ile355Phe | — | — | — | — | — | deleterious | probably damaging | |||
rs45438799 | Exon 7 | c.1081C>T | p.Leu361Phe | 0 | 0.001 | 0 | 0 | 0 | tolerated | possibly damaging | |||
rs77147096 | Exon 7 | c.1093G>A | p.Gly365Ser | 0.0098 | 0 | 0 | 0 | 0 | tolerated | benign | |||
rs147133669 | Exon 7 | c.1096G>A | p.Val366Met | 0.0008 | 0.001 | 0 | 0 | 0.0014 | deleterious | benign | |||
rs375271607 | Exon 7 | c.1144C>T | p.Pro382Ser | — | — | — | — | — | deleterious | probably damaging | |||
*10 | N.A. | Exon 7 | c.1149G>T | p.Lys383Asn | — | — | — | — | — | deleterious | probably damaging | ↔ | |
rs143386810 | Exon 8 | c.1150G>A | p.Gly384Ser | 0 | 0.001 | 0.001 | 0 | 0 | deleterious | possibly damaging | |||
rs553009747 | Exon 8 | c.1154C>T | p.Thr385Ile | 0 | 0 | 0.001 | 0 | 0 | deleterious | probably damaging | |||
rs267602641 | Exon 8 | c.1165G>A | p.Ala389Thr | — | — | — | — | — | tolerated | benign | |||
rs72558194 | Exon 8 | c.1169T>C | p.Leu390Ser | — | — | — | — | — | tolerated | benign | |||
rs74454169 | Exon 8 | c.1171C>A | p.Leu391Met | — | — | — | — | — | deleterious | probably damaging | |||
rs201421851 | Exon 8 | c.1178C>G | p.Ser393Cys | 0 | 0 | 0 | 0 | 0.0014 | deleterious | probably damaging | |||
rs190807911 | Exon 8 | c.1180G>A | p.Val394Met | 0 | 0 | 0 | 0.001 | 0 | deleterious | probably damaging | |||
rs201301235 | Exon 8 | c.1187A>C | p.His396Pro | — | — | — | — | — | deleterious | possibly damaging | |||
rs186285658 | Exon 8 | c.1189G>A | p.Asp397Asn | 0 | 0 | 0 | 0.002 | 0 | deleterious | possibly damaging | |||
rs113669182 | Exon 8 | c.1193A>G | p.Asp398Gly | — | — | — | — | — | tolerated | benign | |||
*3 | rs10509681 | Exon 8 | c.1196A>G | p.Lys399Arg | 0.0083 | 0.1183 | 0.0297 | 0.001 | 0.0994 | tolerated | benign | ↑ | ↓↑ |
rs181982392 | Exon 8 | c.1198G>T | p.Glu400Ter | 0 | 0 | 0 | 0.001 | 0 | — | — | |||
rs66501115 | Exon 8 | c.1210C>G | p.Pro404Ala | — | — | — | — | — | deleterious | possibly damaging | ↓ | ||
rs150733212 | Exon 8 | c.1225C>T | p.Pro409Ser | — | — | — | — | — | deleterious | probably damaging | |||
rs374605743 | Exon 8 | c.1246A>C | p.Asn416His | — | — | — | — | — | deleterious | benign | |||
rs141209951 | Exon 8 | c.1250G>T | p.Gly417Val | 0.0015 | 0 | 0 | 0 | 0 | deleterious | probably damaging | |||
rs552247471 | Exon 8 | c.1252A>T | p.Asn418Tyr | 0 | 0 | 0.001 | 0 | 0 | deleterious | probably damaging | |||
rs371330493 | Exon 8 | c.1273T>C | p.Phe425Leu | 0.0008 | 0 | 0 | 0 | 0 | deleterious | probably damaging | |||
rs148348784 | Exon 8 | c.1276A>G | p.Met426Val | — | — | — | — | — | tolerated | benign | ↔ | ||
rs372999683 | Exon 9 | c.1313A>G | p.Glu438Gly | — | — | — | — | — | deleterious | probably damaging | |||
rs143038562 | Exon 9 | c.1324C>T | p.Arg442Cys | — | — | — | — | — | deleterious | possibly damaging | |||
rs138495387 | Exon 9 | c.1325G>A | p.Arg442His | — | — | — | — | — | deleterious | possibly damaging | |||
rs369600584 | Exon 9 | c.1327A>C | p.Met443Leu | — | — | — | — | — | deleterious | benign | |||
*12 | rs3832694 | Exon 9 | c.1382_1384delTTG | p.Val461del | — | — | — | — | — | — | — | ||
rs61757318 | Exon 9 | c.1413delA | p.Val472LeufsTer23 | — | — | — | — | — | — | — | ↔ | ||
rs529725725 | Exon 9 | c.1414G>A | p.Val472Ile | 0 | 0 | 0 | 0 | 0.0029 | tolerated | benign | |||
rs376016142 | Exon 9 | c.1441C>T | p.Pro481Ser | — | — | — | — | — | deleterious | probably damaging | |||
rs140481138 | Exon 9 | c.1466C>T | p.Pro489Leu | — | — | — | — | — | deleterious | probably damaging |
↔, unchanged activity; ↓, reduced activity; ↑, increased activity; N.A., not available; SIFT, sorting intolerant from tolerant