No paralogue variants have been mapped to residue 1273 for SCN5A.
SCN5A | TYVFVLEMLLKWVAYGF----KKYFTNAWC>W<LDFLIVDVSLVSLVAN-T----LGFAEMGP | 1298 |
SCN1A | TYIFILEMLLKWVAYGY----QTYFTNAWC>W<LDFLIVDVSLVSLTAN-A----LGYSELGA | 1311 |
SCN2A | TYIFILEMLLKWVAYGF----QVYFTNAWC>W<LDFLIVDVSLVSLTAN-A----LGYSELGA | 1301 |
SCN3A | TYIFILEMLLKWVAYGF----QTYFTNAWC>W<LDFLIVDVSLVSLVAN-A----LGYSELGA | 1299 |
SCN4A | TYIFIMEMLLKWVAYGF----KVYFTNAWC>W<LDFLIVDVSIISLVAN-W----LGYSELGP | 1124 |
SCN7A | TYIFILEMLLKWMAYGF----KAYFSNGWY>R<LDFVVVIVFCLSLIGK-T----RE--E--- | 1022 |
SCN8A | TYIFILEMLLKWTAYGF----VKFFTNAWC>W<LDFLIVAVSLVSLIAN-A----LGYSELGA | 1291 |
SCN9A | TYIFILEMLLKWIAYGY----KTYFTNAWC>W<LDFLIVDVSLVTLVAN-T----LGYSDLGP | 1274 |
SCN10A | TFIFVFEMLLKWVAYGF----KKYFTNAWC>W<LDFLIVNISLISLTAK-I----LEYSEVAP | 1245 |
SCN11A | THIFILEMVLKWVAFGF----GKYFTSAWC>C<LDFIIVIVSVTTLI---------N---LME | 1142 |
CACNA1A | TGVFTFEMVIKMIDLGLVLHQGAYFRDLWN>I<LDFIVVSGALVAFAFTGN----SKGKDINT | 1341 |
CACNA1B | TGVFTFEMVIKMIDLGLLLHPGAYFRDLWN>I<LDFIVVSGALVAFAFS-G----SKGKDINT | 1247 |
CACNA1C | TTIFTIEIALKMTAYGAFLHKGSFCRNYFN>I<LDLLVVSVSLISF----G----IQSSAINV | 993 |
CACNA1D | TAIFTVEILLKMTTFGAFLHKGAFCRNYFN>L<LDMLVVGVSLVSF----G----IQSSAISV | 999 |
CACNA1E | TGVFTFEMVIKMIDQGLILQDGSYFRDLWN>I<LDFVVVVGALVAFALANA-LGTNKGRDIKT | 1253 |
CACNA1F | TSIFTVEILLKMTVFGAFLHRGSFCRSWFN>M<LDLLVVSVSLISF----G----IHSSAISV | 964 |
CACNA1G | TAVFLAEMTVKVVALGWCFGEQAYLRSSWN>V<LDGLLVLISVIDILVS-MVSD-SGTKILGM | 1376 |
CACNA1H | TAIFVAEMMVKVVALGLLSGEHAYLQSSWN>L<LDGLLVLVSLVDIVVA-MASA-GGAKILGV | 1394 |
CACNA1I | TAIFVGEMTLKVVSLGLYFGEQAYLRSSWN>V<LDGFLVFVSIIDIVVS-LASA-GGAKILGV | 1270 |
CACNA1S | TSVFTVEIVLKMTTYGAFLHKGSFCRNYFN>M<LDLLVVAVSLISM----G----LESSAISV | 892 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.W1273C | c.3819G>T | Putative Benign | SIFT: Polyphen: |