No paralogue variants have been mapped to residue 1483 for SCN5A.
SCN5A | FIIFGSFFTLNLFIGVIIDNFNQQKKKLGG>Q<DIFMTEEQKKYY------NAM---KK-L-- | 1501 |
SCN1A | FIIFGSFFTLNLFIGVIIDNFNQQKKKFGG>Q<DIFMTEEQKKYY------NAM---KK-L-- | 1514 |
SCN2A | FIIFGSFFTLNLFIGVIIDNFNQQKKKFGG>Q<DIFMTEEQKKYY------NAM---KK-L-- | 1504 |
SCN3A | FIIFGSFFTLNLFIGVIIDNFNQQKKKFGG>Q<DIFMTEEQKKYY------NAM---KK-L-- | 1499 |
SCN4A | FIIFGSFFTLNLFIGVIIDNFNQQKKKLGG>K<DIFMTEEQKKYY------NAM---KK-L-- | 1326 |
SCN7A | FIIFGVFLPLSMLITVIIDNFNKHKIKLGG>S<NIFITVKQRKQY------RRL---KK-L-- | 1224 |
SCN8A | FIIFGSFFTLNLFIGVIIDNFNQQKKKFGG>Q<DIFMTEEQKKYY------NAM---KK-L-- | 1495 |
SCN9A | FIIFGSFFTLNLFIGVIIDNFNQQKKKLGG>Q<DIFMTEEQKKYY------NAM---KK-L-- | 1477 |
SCN10A | FIIFGGFFTLNLFVGVIIDNFNQQKKKLGG>Q<DIFMTEEQKKYY------NAM---KK-L-- | 1449 |
SCN11A | FIIFGSFFTLNLFIGVIIDNFNQQQKKLGG>Q<DIFMTEEQKKYY------NAM---KK-L-- | 1339 |
CACNA1A | YFVVFPFFFVNIFVALIIITFQEQGDKM-->-<-MEEYSLEKNER------ACI---DFAI-- | 1539 |
CACNA1B | YFVVFPFFFVNIFVALIIITFQEQGDKV-->-<-MSECSLEKNER------ACI---DFAI-- | 1445 |
CACNA1C | YIIIIAFFMMNIFVGFVIVTFQEQGEQE-->-<-YKNCELDKNQR------QCV---EYAL-- | 1194 |
CACNA1D | YIIIVAFFMMNIFVGFVIVTFQEQGEKE-->-<-YKNCELDKNQR------QCV---EYAL-- | 1200 |
CACNA1E | YFVVFPFFFVNIFVALIIITFQEQGDKM-->-<-MEECSLEKNER------ACI---DFAI-- | 1451 |
CACNA1F | YIIIIAFFMMNIFVGFVIITFRAQGEQE-->-<-YQNCELDKNQR------QCV---EYAL-- | 1165 |
CACNA1G | FLLIVAFFVLNMFVGVVVENFHKCRQHQEE>E<EARRREEKRLRRLEKKRRNLML--DDVI-- | 1576 |
CACNA1H | FLLIVSFFVLNMFVGVVVENFHKCRQHQEA>E<EARRREEK----------RLRRLERRRRST | 1588 |
CACNA1I | FLLIVSFFVLNMFVGVVVENFHKCRQHQEA>E<EARRREEK----------RLRRLEKKRR-- | 1462 |
CACNA1S | YIILIAFFMMNIFVGFVIVTFQEQGETE-->-<-YKNCELDKNQR------QCV---QYAL-- | 1093 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q1483H | c.4449G>C | Putative Benign | SIFT: Polyphen: |