No paralogue variants have been mapped to residue 1317 for SCN5A.
SCN5A | ----LGFAEMGPIKSLRTLRALRPLRALSR>F<EGMRVVVNALVGAIPSIMNVLLVCLIFWLI | 1347 |
SCN1A | ----LGYSELGAIKSLRTLRALRPLRALSR>F<EGMRVVVNALLGAIPSIMNVLLVCLIFWLI | 1360 |
SCN2A | ----LGYSELGAIKSLRTLRALRPLRALSR>F<EGMRVVVNALLGAIPSIMNVLLVCLIFWLI | 1350 |
SCN3A | ----LGYSELGAIKSLRTLRALRPLRALSR>F<EGMRVVVNALVGAIPSIMNVLLVCLIFWLI | 1348 |
SCN4A | ----LGYSELGPIKSLRTLRALRPLRALSR>F<EGMRVVVNALLGAIPSIMNVLLVCLIFWLI | 1173 |
SCN7A | ----RE--E---LKPLISMKFLRPLRVLSQ>F<ERMKVVVRALIKTTLPTLNVFLVCLMIWLI | 1071 |
SCN8A | ----LGYSELGAIKSLRTLRALRPLRALSR>F<EGMRVVVNALVGAIPSIMNVLLVCLIFWLI | 1340 |
SCN9A | ----LGYSDLGPIKSLRTLRALRPLRALSR>F<EGMRVVVNALIGAIPSIMNVLLVCLIFWLI | 1323 |
SCN10A | ----LEYSEVAPIKALRTLRALRPLRALSR>F<EGMRVVVDALVGAIPSIMNVLLVCLIFWLI | 1294 |
SCN11A | -----N---LMELKSFRTLRALRPLRALSQ>F<EGMKVVVNALIGAIPAILNVLLVCLIFWLV | 1191 |
CACNA1A | ----SKGKDINTIKSLRVLRVLRPLKTIKR>L<PKLKAVFDCVVNSLKNVFNILIVYMLFMFI | 1390 |
CACNA1B | ----SKGKDINTIKSLRVLRVLRPLKTIKR>L<PKLKAVFDCVVNSLKNVLNILIVYMLFMFI | 1296 |
CACNA1C | ----IQSSAINVVKILRVLRVLRPLRAINR>A<KGLKHVVQCVFVAIRTIGNIVIVTTLLQFM | 1042 |
CACNA1D | ----IQSSAISVVKILRVLRVLRPLRAINR>A<KGLKHVVQCVFVAIRTIGNIMIVTTLLQFM | 1048 |
CACNA1E | -LGTNKGRDIKTIKSLRVLRVLRPLKTIKR>L<PKLKAVFDCVVTSLKNVFNILIVYKLFMFI | 1302 |
CACNA1F | ----IHSSAISVVKILRVLRVLRPLRAINR>A<KGLKHVVQCVFVAIRTIGNIMIVTTLLQFM | 1013 |
CACNA1G | VSD-SGTKILGMLRVLRLLRTLRPLRVISR>A<QGLKLVVETLMSSLKPIGNIVVICCAFFII | 1425 |
CACNA1H | ASA-GGAKILGVLRVLRLLRTLRPLRVISR>A<PGLKLVVETLISSLRPIGNIVLICCAFFII | 1443 |
CACNA1I | ASA-GGAKILGVLRVLRLLRTLRPLRVISR>A<PGLKLVVETLISSLKPIGNIVLICCAFFII | 1319 |
CACNA1S | ----LESSAISVVKILRVLRVLRPLRAINR>A<KGLKHVVQCMFVAISTIGNIVLVTTLLQFM | 941 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F1317C | c.3950T>G | Putative Benign | SIFT: Polyphen: |