No paralogue variants have been mapped to residue 1051 for SCN5A.
SCN5A | -----------------------PVCVPIA>V<AESD------TDD------------QEED- | 1062 |
SCN1A | --------------------PSLTVTVPIA>V<GESD------FEN------------LNTE- | 1130 |
SCN2A | --------------------PSLTVTVPIA>V<GESD------FEN------------LNTE- | 1120 |
SCN3A | --------------------PSLTVTVPIA>V<GESD------FEN------------LNTE- | 1118 |
SCN4A | --------------------PYLTIQVPIA>S<EESD------LEM------------PTEE- | 939 |
SCN7A | --------------------PSVSETVPIA>S<GESD------IEN------------LDNK- | 851 |
SCN8A | --------------------PNLTVRVPIA>V<GESD------FEN------------LNTE- | 1111 |
SCN9A | --------------------PSLTVTVPIA>P<GESD------LEN------------MNAE- | 1093 |
SCN10A | --------------------PTVWVSVPIA>E<GESD------LDD------------LEDDG | 1013 |
SCN11A | -----------------------TWLAPLA>E<EEDD------VEF------------SGED- | 932 |
CACNA1A | WEGEAERGKAGDPHRRHVHRQGGSRESRSG>S<PRTG------ADGEHRRHRAHRR--PGEEG | 969 |
CACNA1B | PEARSERGR-------GPGPEGGRRHHRRG>S<PEEA------AEREPRRHRAHRH--QDPSK | 946 |
CACNA1C | --------------GESK------------>-<-------------------EEKIELKSIT- | 810 |
CACNA1D | ------------------------------>-<-------------------------NQIA- | 817 |
CACNA1E | GEAVVTFED-----------RARHRQSQRR>S<RHRRVRTEGKESSSASRSRSASQERSLDEA | 951 |
CACNA1F | ------------------------------>-<------------------------------ | |
CACNA1G | ---P-----------------SLKRRSPSG>E<RRSL------LSG------------EGQES | 1139 |
CACNA1H | ---P-----------------SLKRRGQCG>E<RESL------LSG------------EGKGS | 1174 |
CACNA1I | ---P-----------------------PSA>E<HESL------LSA------------ERGGG | 1014 |
CACNA1S | ------------------------------>-<-------------------------EQKP- | 709 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1051A | c.3152T>C | Putative Benign | SIFT: Polyphen: |