No paralogue variants have been mapped to residue 1475 for SCN5A.
SCN5A | YMYIYFVIFIIFGSFFTLNLFIGVIIDNFN>Q<QKKKLGGQDIFMTEEQKKYY------NAM- | 1498 |
SCN1A | YMYLYFVIFIIFGSFFTLNLFIGVIIDNFN>Q<QKKKFGGQDIFMTEEQKKYY------NAM- | 1511 |
SCN2A | YMYLYFVIFIIFGSFFTLNLFIGVIIDNFN>Q<QKKKFGGQDIFMTEEQKKYY------NAM- | 1501 |
SCN3A | YMYLYFVIFIIFGSFFTLNLFIGVIIDNFN>Q<QKKKFGGQDIFMTEEQKKYY------NAM- | 1496 |
SCN4A | YMYLYFVIFIIFGSFFTLNLFIGVIIDNFN>Q<QKKKLGGKDIFMTEEQKKYY------NAM- | 1323 |
SCN7A | YMYCYFINFIIFGVFLPLSMLITVIIDNFN>K<HKIKLGGSNIFITVKQRKQY------RRL- | 1221 |
SCN8A | YMYIYFVIFIIFGSFFTLNLFIGVIIDNFN>Q<QKKKFGGQDIFMTEEQKKYY------NAM- | 1492 |
SCN9A | YMYIYFVVFIIFGSFFTLNLFIGVIIDNFN>Q<QKKKLGGQDIFMTEEQKKYY------NAM- | 1474 |
SCN10A | YMYLYFVIFIIFGGFFTLNLFVGVIIDNFN>Q<QKKKLGGQDIFMTEEQKKYY------NAM- | 1446 |
SCN11A | LGYIYFVVFIIFGSFFTLNLFIGVIIDNFN>Q<QQKKLGGQDIFMTEEQKKYY------NAM- | 1336 |
CACNA1A | EMSIFYVVYFVVFPFFFVNIFVALIIITFQ>E<QGDKM----MEEYSLEKNER------ACI- | 1535 |
CACNA1B | ELSIFYVVYFVVFPFFFVNIFVALIIITFQ>E<QGDKV----MSECSLEKNER------ACI- | 1441 |
CACNA1C | EISIFFIIYIIIIAFFMMNIFVGFVIVTFQ>E<QGEQE----YKNCELDKNQR------QCV- | 1190 |
CACNA1D | EISIFFIIYIIIVAFFMMNIFVGFVIVTFQ>E<QGEKE----YKNCELDKNQR------QCV- | 1196 |
CACNA1E | EMSIFYVVYFVVFPFFFVNIFVALIIITFQ>E<QGDKM----MEECSLEKNER------ACI- | 1447 |
CACNA1F | EISVFFIVYIIIIAFFMMNIFVGFVIITFR>A<QGEQE----YQNCELDKNQR------QCV- | 1161 |
CACNA1G | WMLLYFISFLLIVAFFVLNMFVGVVVENFH>K<CRQHQEEEEARRREEKRLRRLEKKRRNLML | 1572 |
CACNA1H | WMLLYFISFLLIVSFFVLNMFVGVVVENFH>K<CRQHQEAEEARRREEK----------RLRR | 1580 |
CACNA1I | WMLLYFISFLLIVSFFVLNMFVGVVVENFH>K<CRQHQEAEEARRREEK----------RLRR | 1456 |
CACNA1S | EMAIFFIIYIILIAFFMMNIFVGFVIVTFQ>E<QGETE----YKNCELDKNQR------QCV- | 1089 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Gln1475Leu | c.4424A>T | Unknown | SIFT: Polyphen: |