No paralogue variants have been mapped to residue 1115 for SCN5A.
SCN5A | ATASS------EA---------EASASQAD>W<RQQWKAEPQAPG----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 | QENKK------PT---------SQRVQSVE>I<DMFSEDEPHLTIQDPRKKSD-V-------- | 987 |
CACNA1A | QSPAKMGNSTDPGPMLAIPAMATNPQNAAS>R<RTPNNPGNPSNPGPP--KTP-ENSLIVTNP | 1150 |
CACNA1B | EKEAEIVEADKEKELR-NHQPREPHCDLET>S<GTVTVGPMHTLPSTC--LQK-VEEQPEDAD | 1060 |
CACNA1C | ------------------------------>-<------------------------------ | |
CACNA1D | ------------------------------>-<------------------------------ | |
CACNA1E | RVI-------S------QSEPDLSCITAN->-<------------TDK--ATT-ESTSVTVAI | 1074 |
CACNA1F | ------------------------------>-<------------------------------ | |
CACNA1G | ------------------------------>-<------------------------------ | |
CACNA1H | ------------------------------>-<------------------------------ | |
CACNA1I | ------------------------------>-<------------------------------ | |
CACNA1S | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.W1115R | c.3343T>C | Putative Benign | SIFT: Polyphen: |