No paralogue variants have been mapped to residue 1239 for SCN5A.
SCN5A | TFIIFMILLSSGALAFEDIYLEERKTIKVL>L<EYADKMFTYVFVLEMLLKWVAYGF----KK | 1265 |
SCN1A | TFIVFMILLSSGALAFEDIYIDQRKTIKTM>L<EYADKVFTYIFILEMLLKWVAYGY----QT | 1278 |
SCN2A | TFIVFMILLSSGALAFEDIYIEQRKTIKTM>L<EYADKVFTYIFILEMLLKWVAYGF----QV | 1268 |
SCN3A | TFIVFMILLSSGALAFEDIYIEQRKTIKTM>L<EYADKVFTYIFILEMLLKWVAYGF----QT | 1266 |
SCN4A | TFIVFMILLSSGALAFEDIYIEQRRVIRTI>L<EYADKVFTYIFIMEMLLKWVAYGF----KV | 1091 |
SCN7A | CFIGLVTLLSTGTLAFEDIYMDQRKTIKIL>L<EYADMIFTYIFILEMLLKWMAYGF----KA | 994 |
SCN8A | TFIIFMILLSSGALAFEDIYIEQRKTIRTI>L<EYADKVFTYIFILEMLLKWTAYGF----VK | 1258 |
SCN9A | SFIVLMILLSSGALAFEDIYIERKKTIKII>L<EYADKIFTYIFILEMLLKWIAYGY----KT | 1241 |
SCN10A | SFIIFMILLSSGSLAFEDYYLDQKPTVKAL>L<EYTDRVFTFIFVFEMLLKWVAYGF----KK | 1212 |
SCN11A | SFIIFVILLSSGALIFEDVHLENQPKIQEL>L<NCTDIIFTHIFILEMVLKWVAFGF----GK | 1116 |
CACNA1A | MCILMVIAMSSIALAAEDPV-QPNAPRNNV>L<RYFDYVFTGVFTFEMVIKMIDLGLVLHQGA | 1307 |
CACNA1B | VVILVVIALSSIALAAEDPV-RTDSPRNNA>L<KYLDYIFTGVFTFEMVIKMIDLGLLLHPGA | 1214 |
CACNA1C | NLILFFILLSSISLAAEDPV-QHTSFRNHI>L<FYFDIVFTTIFTIEIALKMTAYGAFLHKGS | 963 |
CACNA1D | NLILVFIMLSSAALAAEDPI-RSHSFRNTI>L<GYFDYAFTAIFTVEILLKMTTFGAFLHKGA | 969 |
CACNA1E | MCILLVIAASSIALAAEDPV-LTNSERNKV>L<RYFDYVFTGVFTFEMVIKMIDQGLILQDGS | 1216 |
CACNA1F | NLILVFIILSSVSLAAEDPI-RAHSFRNHI>L<GYFDYAFTSIFTVEILLKMTVFGAFLHRGS | 934 |
CACNA1G | HVVLVIIFLNCITIAMERPKIDPHSAERIF>L<TLSNYIFTAVFLAEMTVKVVALGWCFGEQA | 1340 |
CACNA1H | HVVLVFIFLNCVTIALERPDIDPGSTERVF>L<SVSNYIFTAIFVAEMMVKVVALGLLSGEHA | 1358 |
CACNA1I | YVVLAFIFLNCITIALERPQIEAGSTERIF>L<TVSNYIFTAIFVGEMTLKVVSLGLYFGEQA | 1234 |
CACNA1S | NFILLFILLSSAALAAEDPI-RADSMRNQI>L<KHFDIGFTSVFTVEIVLKMTTYGAFLHKGS | 862 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L1239P | c.3716T>C | Inherited Arrhythmia | BrS | rs199473210 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | BrS | An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283 |