No paralogue variants have been mapped to residue 1050 for SCN5A.
SCN5A | ------------------------PVCVPI>A<VAESD------TDD------------QEED | 1062 |
SCN1A | ---------------------PSLTVTVPI>A<VGESD------FEN------------LNTE | 1130 |
SCN2A | ---------------------PSLTVTVPI>A<VGESD------FEN------------LNTE | 1120 |
SCN3A | ---------------------PSLTVTVPI>A<VGESD------FEN------------LNTE | 1118 |
SCN4A | ---------------------PYLTIQVPI>A<SEESD------LEM------------PTEE | 939 |
SCN7A | ---------------------PSVSETVPI>A<SGESD------IEN------------LDNK | 851 |
SCN8A | ---------------------PNLTVRVPI>A<VGESD------FEN------------LNTE | 1111 |
SCN9A | ---------------------PSLTVTVPI>A<PGESD------LEN------------MNAE | 1093 |
SCN10A | ---------------------PTVWVSVPI>A<EGESD------LDD------------LEDD | 1012 |
SCN11A | ------------------------TWLAPL>A<EEEDD------VEF------------SGED | 932 |
CACNA1A | FWEGEAERGKAGDPHRRHVHRQGGSRESRS>G<SPRTG------ADGEHRRHRAHRR--PGEE | 968 |
CACNA1B | PPEARSERGR-------GPGPEGGRRHHRR>G<SPEEA------AEREPRRHRAHRH--QDPS | 945 |
CACNA1C | ---------------GESK----------->-<--------------------EEKIELKSIT | 810 |
CACNA1D | ------------------------------>-<--------------------------NQIA | 817 |
CACNA1E | GGEAVVTFED-----------RARHRQSQR>R<SRHRRVRTEGKESSSASRSRSASQERSLDE | 950 |
CACNA1F | ------------------------------>-<------------------------------ | |
CACNA1G | ----P-----------------SLKRRSPS>G<ERRSL------LSG------------EGQE | 1138 |
CACNA1H | ----P-----------------SLKRRGQC>G<ERESL------LSG------------EGKG | 1173 |
CACNA1I | ----P-----------------------PS>A<EHESL------LSA------------ERGG | 1013 |
CACNA1S | ------------------------------>-<--------------------------EQKP | 709 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1050V | c.3149C>T | Putative Benign | SIFT: deleterious Polyphen: probably damaging |