No paralogue variants have been mapped to residue 1294 for SCN5A.
SCN5A | NAWCWLDFLIVDVSLVSLVAN-T----LGF>A<EMGPIKSLRTLRALRPLRALSRFEGMRVVV | 1324 |
SCN1A | NAWCWLDFLIVDVSLVSLTAN-A----LGY>S<ELGAIKSLRTLRALRPLRALSRFEGMRVVV | 1337 |
SCN2A | NAWCWLDFLIVDVSLVSLTAN-A----LGY>S<ELGAIKSLRTLRALRPLRALSRFEGMRVVV | 1327 |
SCN3A | NAWCWLDFLIVDVSLVSLVAN-A----LGY>S<ELGAIKSLRTLRALRPLRALSRFEGMRVVV | 1325 |
SCN4A | NAWCWLDFLIVDVSIISLVAN-W----LGY>S<ELGPIKSLRTLRALRPLRALSRFEGMRVVV | 1150 |
SCN7A | NGWYRLDFVVVIVFCLSLIGK-T----RE->-<E---LKPLISMKFLRPLRVLSQFERMKVVV | 1048 |
SCN8A | NAWCWLDFLIVAVSLVSLIAN-A----LGY>S<ELGAIKSLRTLRALRPLRALSRFEGMRVVV | 1317 |
SCN9A | NAWCWLDFLIVDVSLVTLVAN-T----LGY>S<DLGPIKSLRTLRALRPLRALSRFEGMRVVV | 1300 |
SCN10A | NAWCWLDFLIVNISLISLTAK-I----LEY>S<EVAPIKALRTLRALRPLRALSRFEGMRVVV | 1271 |
SCN11A | SAWCCLDFIIVIVSVTTLI---------N->-<-LMELKSFRTLRALRPLRALSQFEGMKVVV | 1168 |
CACNA1A | DLWNILDFIVVSGALVAFAFTGN----SKG>K<DINTIKSLRVLRVLRPLKTIKRLPKLKAVF | 1367 |
CACNA1B | DLWNILDFIVVSGALVAFAFS-G----SKG>K<DINTIKSLRVLRVLRPLKTIKRLPKLKAVF | 1273 |
CACNA1C | NYFNILDLLVVSVSLISF----G----IQS>S<AINVVKILRVLRVLRPLRAINRAKGLKHVV | 1019 |
CACNA1D | NYFNLLDMLVVGVSLVSF----G----IQS>S<AISVVKILRVLRVLRPLRAINRAKGLKHVV | 1025 |
CACNA1E | DLWNILDFVVVVGALVAFALANA-LGTNKG>R<DIKTIKSLRVLRVLRPLKTIKRLPKLKAVF | 1279 |
CACNA1F | SWFNMLDLLVVSVSLISF----G----IHS>S<AISVVKILRVLRVLRPLRAINRAKGLKHVV | 990 |
CACNA1G | SSWNVLDGLLVLISVIDILVS-MVSD-SGT>K<ILGMLRVLRLLRTLRPLRVISRAQGLKLVV | 1402 |
CACNA1H | SSWNLLDGLLVLVSLVDIVVA-MASA-GGA>K<ILGVLRVLRLLRTLRPLRVISRAPGLKLVV | 1420 |
CACNA1I | SSWNVLDGFLVFVSIIDIVVS-LASA-GGA>K<ILGVLRVLRLLRTLRPLRVISRAPGLKLVV | 1296 |
CACNA1S | NYFNMLDLLVVAVSLISM----G----LES>S<AISVVKILRVLRVLRPLRAINRAKGLKHVV | 918 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1294G | c.3881C>G | Putative Benign | SIFT: Polyphen: |