No paralogue variants have been mapped to residue 1240 for SCN5A.
SCN5A | FIIFMILLSSGALAFEDIYLEERKTIKVLL>E<YADKMFTYVFVLEMLLKWVAYGF----KKY | 1266 |
SCN1A | FIVFMILLSSGALAFEDIYIDQRKTIKTML>E<YADKVFTYIFILEMLLKWVAYGY----QTY | 1279 |
SCN2A | FIVFMILLSSGALAFEDIYIEQRKTIKTML>E<YADKVFTYIFILEMLLKWVAYGF----QVY | 1269 |
SCN3A | FIVFMILLSSGALAFEDIYIEQRKTIKTML>E<YADKVFTYIFILEMLLKWVAYGF----QTY | 1267 |
SCN4A | FIVFMILLSSGALAFEDIYIEQRRVIRTIL>E<YADKVFTYIFIMEMLLKWVAYGF----KVY | 1092 |
SCN7A | FIGLVTLLSTGTLAFEDIYMDQRKTIKILL>E<YADMIFTYIFILEMLLKWMAYGF----KAY | 995 |
SCN8A | FIIFMILLSSGALAFEDIYIEQRKTIRTIL>E<YADKVFTYIFILEMLLKWTAYGF----VKF | 1259 |
SCN9A | FIVLMILLSSGALAFEDIYIERKKTIKIIL>E<YADKIFTYIFILEMLLKWIAYGY----KTY | 1242 |
SCN10A | FIIFMILLSSGSLAFEDYYLDQKPTVKALL>E<YTDRVFTFIFVFEMLLKWVAYGF----KKY | 1213 |
SCN11A | FIIFVILLSSGALIFEDVHLENQPKIQELL>N<CTDIIFTHIFILEMVLKWVAFGF----GKY | 1117 |
CACNA1A | CILMVIAMSSIALAAEDPV-QPNAPRNNVL>R<YFDYVFTGVFTFEMVIKMIDLGLVLHQGAY | 1308 |
CACNA1B | VILVVIALSSIALAAEDPV-RTDSPRNNAL>K<YLDYIFTGVFTFEMVIKMIDLGLLLHPGAY | 1215 |
CACNA1C | LILFFILLSSISLAAEDPV-QHTSFRNHIL>F<YFDIVFTTIFTIEIALKMTAYGAFLHKGSF | 964 |
CACNA1D | LILVFIMLSSAALAAEDPI-RSHSFRNTIL>G<YFDYAFTAIFTVEILLKMTTFGAFLHKGAF | 970 |
CACNA1E | CILLVIAASSIALAAEDPV-LTNSERNKVL>R<YFDYVFTGVFTFEMVIKMIDQGLILQDGSY | 1217 |
CACNA1F | LILVFIILSSVSLAAEDPI-RAHSFRNHIL>G<YFDYAFTSIFTVEILLKMTVFGAFLHRGSF | 935 |
CACNA1G | VVLVIIFLNCITIAMERPKIDPHSAERIFL>T<LSNYIFTAVFLAEMTVKVVALGWCFGEQAY | 1341 |
CACNA1H | VVLVFIFLNCVTIALERPDIDPGSTERVFL>S<VSNYIFTAIFVAEMMVKVVALGLLSGEHAY | 1359 |
CACNA1I | VVLAFIFLNCITIALERPQIEAGSTERIFL>T<VSNYIFTAIFVGEMTLKVVSLGLYFGEQAY | 1235 |
CACNA1S | FILLFILLSSAALAAEDPI-RADSMRNQIL>K<HFDIGFTSVFTVEIVLKMTTYGAFLHKGSF | 863 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1240Q | c.3718G>C | Inherited Arrhythmia | BrS | rs199473211 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | BrS | Natural history of Brugada syndrome: insights for risk stratification and management. Circulation. 2002 105(11):1342-7. 11901046 | ||
Inherited Arrhythmia | BrS | High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet. 2013 23414114 | |||
Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 |