No paralogue variants have been mapped to residue 799 for CACNA1C.
CACNA1C | ----------------------------GE>S<K----------------------------- | 800 |
CACNA1A | HH-AREGSLEQPGFWEGEAERGKAGDPHRR>H<VHRQGGSRESRSGSPRTG------ADGEHR | 957 |
CACNA1B | PRPHRSHSKEAAGPPEARSERGR------->G<PGPEGGRRHHRRGSPEEA------AEREPR | 934 |
CACNA1D | ------------------------------>-<------------------------------ | |
CACNA1E | HG-NCDPTQQEAGGGEAVVTFED------->-<---RARHRQSQRRSRHRRVRTEGKESSSAS | 937 |
CACNA1F | ------------------------------>-<------------------------------ | |
CACNA1G | -------SLGRA-----P------------>-<----SLKRRSPSGERRSL------LSG--- | 1134 |
CACNA1H | -------SLGRA-----P------------>-<----SLKRRGQCGERESL------LSG--- | 1169 |
CACNA1I | -------SLKHK-----P------------>-<----------PSAEHESL------LSA--- | 1009 |
CACNA1S | ------------------------------>-<------------------------------ | |
SCN10A | -------DFIAN------------------>-<---PTVWVSVPIAEGESD------LDD--- | 1008 |
SCN11A | ------------------------------>-<------TWLAPLAEEEDD------VEF--- | 928 |
SCN1A | -------SFINN------------------>-<---PSLTVTVPIAVGESD------FEN--- | 1126 |
SCN2A | -------SFINN------------------>-<---PSLTVTVPIAVGESD------FEN--- | 1116 |
SCN3A | -------SFINN------------------>-<---PSLTVTVPIAVGESD------FEN--- | 1114 |
SCN4A | -------NFINN------------------>-<---PYLTIQVPIASEESD------LEM--- | 935 |
SCN5A | ------------------------------>-<------PVCVPIAVAESD------TDD--- | 1058 |
SCN7A | -------SLIPS------------------>-<---PSVSETVPIASGESD------IEN--- | 847 |
SCN8A | -------SFINN------------------>-<---PNLTVRVPIAVGESD------FEN--- | 1107 |
SCN9A | -------SFIHN------------------>-<---PSLTVTVPIAPGESD------LEN--- | 1089 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S799T | c.2395T>A | Putative Benign | SIFT: Polyphen: | ||
p.S799Y | c.2396C>A | Putative Benign | SIFT: Polyphen: |