No paralogue variants have been mapped to residue 1264 for SCN5A.
SCN5A | LLEYADKMFTYVFVLEMLLKWVAYGF---->K<KYFTNAWCWLDFLIVDVSLVSLVAN-T--- | 1290 |
SCN1A | MLEYADKVFTYIFILEMLLKWVAYGY---->Q<TYFTNAWCWLDFLIVDVSLVSLTAN-A--- | 1303 |
SCN2A | MLEYADKVFTYIFILEMLLKWVAYGF---->Q<VYFTNAWCWLDFLIVDVSLVSLTAN-A--- | 1293 |
SCN3A | MLEYADKVFTYIFILEMLLKWVAYGF---->Q<TYFTNAWCWLDFLIVDVSLVSLVAN-A--- | 1291 |
SCN4A | ILEYADKVFTYIFIMEMLLKWVAYGF---->K<VYFTNAWCWLDFLIVDVSIISLVAN-W--- | 1116 |
SCN7A | LLEYADMIFTYIFILEMLLKWMAYGF---->K<AYFSNGWYRLDFVVVIVFCLSLIGK-T--- | 1019 |
SCN8A | ILEYADKVFTYIFILEMLLKWTAYGF---->V<KFFTNAWCWLDFLIVAVSLVSLIAN-A--- | 1283 |
SCN9A | ILEYADKIFTYIFILEMLLKWIAYGY---->K<TYFTNAWCWLDFLIVDVSLVTLVAN-T--- | 1266 |
SCN10A | LLEYTDRVFTFIFVFEMLLKWVAYGF---->K<KYFTNAWCWLDFLIVNISLISLTAK-I--- | 1237 |
SCN11A | LLNCTDIIFTHIFILEMVLKWVAFGF---->G<KYFTSAWCCLDFIIVIVSVTTLI------- | 1138 |
CACNA1A | VLRYFDYVFTGVFTFEMVIKMIDLGLVLHQ>G<AYFRDLWNILDFIVVSGALVAFAFTGN--- | 1333 |
CACNA1B | ALKYLDYIFTGVFTFEMVIKMIDLGLLLHP>G<AYFRDLWNILDFIVVSGALVAFAFS-G--- | 1239 |
CACNA1C | ILFYFDIVFTTIFTIEIALKMTAYGAFLHK>G<SFCRNYFNILDLLVVSVSLISF----G--- | 985 |
CACNA1D | ILGYFDYAFTAIFTVEILLKMTTFGAFLHK>G<AFCRNYFNLLDMLVVGVSLVSF----G--- | 991 |
CACNA1E | VLRYFDYVFTGVFTFEMVIKMIDQGLILQD>G<SYFRDLWNILDFVVVVGALVAFALANA-LG | 1244 |
CACNA1F | ILGYFDYAFTSIFTVEILLKMTVFGAFLHR>G<SFCRSWFNMLDLLVVSVSLISF----G--- | 956 |
CACNA1G | FLTLSNYIFTAVFLAEMTVKVVALGWCFGE>Q<AYLRSSWNVLDGLLVLISVIDILVS-MVSD | 1368 |
CACNA1H | FLSVSNYIFTAIFVAEMMVKVVALGLLSGE>H<AYLQSSWNLLDGLLVLVSLVDIVVA-MASA | 1386 |
CACNA1I | FLTVSNYIFTAIFVGEMTLKVVSLGLYFGE>Q<AYLRSSWNVLDGFLVFVSIIDIVVS-LASA | 1262 |
CACNA1S | ILKHFDIGFTSVFTVEIVLKMTTYGAFLHK>G<SFCRNYFNMLDLLVVAVSLISM----G--- | 884 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K1264N | c.3792G>C | Putative Benign | SIFT: Polyphen: |