No paralogue variants have been mapped to residue 1116 for SCN5A.
SCN5A | TASS------EA---------EASASQADW>R<QQWKAEPQAPG----CGETPE--------- | 1133 |
SCN1A | ------------------------------>-<----------------KLNES--------- | 1148 |
SCN2A | ------------------------------>-<----------------KLN-A--------- | 1137 |
SCN3A | ------------------------------>-<----------------KLN-A--------- | 1135 |
SCN4A | ------------------------------>-<----------------PLY-D--------- | 959 |
SCN7A | ------------------------------>-<----------------KIK-Q--------- | 868 |
SCN8A | ------------------------------>-<----------------KLD-D--------- | 1128 |
SCN9A | ------------------------------>-<----------------RLN-R--------- | 1110 |
SCN10A | ------------------------------>-<----------------GVD-D--------- | 1080 |
SCN11A | ENKK------PT---------SQRVQSVEI>D<MFSEDEPHLTIQDPRKKSD-V--------- | 987 |
CACNA1A | SPAKMGNSTDPGPMLAIPAMATNPQNAASR>R<TPNNPGNPSNPGPP--KTP-ENSLIVTNPS | 1151 |
CACNA1B | KEAEIVEADKEKELR-NHQPREPHCDLETS>G<TVTVGPMHTLPSTC--LQK-VEEQPEDADN | 1061 |
CACNA1C | ------------------------------>-<------------------------------ | |
CACNA1D | ------------------------------>-<------------------------------ | |
CACNA1E | VI-------S------QSEPDLSCITAN-->-<-----------TDK--ATT-ESTSVTVAIP | 1075 |
CACNA1F | ------------------------------>-<------------------------------ | |
CACNA1G | ------------------------------>-<------------------------------ | |
CACNA1H | ------------------------------>-<------------------------------ | |
CACNA1I | ------------------------------>-<------------------------------ | |
CACNA1S | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1116W | c.3346C>T | Benign | rs199473196 | SIFT: deleterious Polyphen: benign | |
Reports | Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
Benign | An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283 | ||||
p.R1116Q | c.3347G>A | Putative Benign | rs369678002 | SIFT: tolerated Polyphen: benign |