No paralogue variants have been mapped to residue 1044 for SCN5A.
SCN5A | ------------------------------>P<VCVPIAVAESD------TDD---------- | 1058 |
SCN1A | SFINN----------------------PSL>T<VTVPIAVGESD------FEN---------- | 1126 |
SCN2A | SFINN----------------------PSL>T<VTVPIAVGESD------FEN---------- | 1116 |
SCN3A | SFINN----------------------PSL>T<VTVPIAVGESD------FEN---------- | 1114 |
SCN4A | NFINN----------------------PYL>T<IQVPIASEESD------LEM---------- | 935 |
SCN7A | SLIPS----------------------PSV>S<ETVPIASGESD------IEN---------- | 847 |
SCN8A | SFINN----------------------PNL>T<VRVPIAVGESD------FEN---------- | 1107 |
SCN9A | SFIHN----------------------PSL>T<VTVPIAPGESD------LEN---------- | 1089 |
SCN10A | DFIAN----------------------PTV>W<VSVPIAEGESD------LDD---------- | 1008 |
SCN11A | ------------------------------>T<WLAPLAEEEDD------VEF---------- | 928 |
CACNA1A | SLEQPGFWEGEAERGKAGDPHRRHVHRQGG>S<RESRSGSPRTG------ADGEHRRHRAHRR | 964 |
CACNA1B | SKEAAGPPEARSERGR-------GPGPEGG>R<RHHRRGSPEEA------AEREPRRHRAHRH | 941 |
CACNA1C | ---------------------GESK----->-<--------------------------EEKI | 804 |
CACNA1D | ------------------------------>-<------------------------------ | |
CACNA1E | TQQEAGGGEAVVTFED-----------RAR>H<RQSQRRSRHRRVRTEGKESSSASRSRSASQ | 944 |
CACNA1F | ------------------------------>-<------------------------------ | |
CACNA1G | SLGRA-----P-----------------SL>K<RRSPSGERRSL------LSG---------- | 1134 |
CACNA1H | SLGRA-----P-----------------SL>K<RRGQCGERESL------LSG---------- | 1169 |
CACNA1I | SLKHK-----P------------------->-<---PSAEHESL------LSA---------- | 1009 |
CACNA1S | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1044L | c.3131C>T | Putative Benign | rs267599788 | SIFT: tolerated Polyphen: possibly damaging |