No paralogue variants have been mapped to residue 1228 for SCN5A.
| SCN5A | CYHIVEHSWFETFIIFMILLSSGALAFEDI>Y<LEERKTIKVLLEYADKMFTYVFVLEMLLKW | 1258 |
| SCN1A | CFRIVEHNWFETFIVFMILLSSGALAFEDI>Y<IDQRKTIKTMLEYADKVFTYIFILEMLLKW | 1271 |
| SCN2A | CYKIVEHNWFETFIVFMILLSSGALAFEDI>Y<IEQRKTIKTMLEYADKVFTYIFILEMLLKW | 1261 |
| SCN3A | CYSIVEHNWFETFIVFMILLSSGALAFEDI>Y<IEQRKTIKTMLEYADKVFTYIFILEMLLKW | 1259 |
| SCN4A | CFKIVEHNWFETFIVFMILLSSGALAFEDI>Y<IEQRRVIRTILEYADKVFTYIFIMEMLLKW | 1084 |
| SCN7A | CCKIVENNWFKCFIGLVTLLSTGTLAFEDI>Y<MDQRKTIKILLEYADMIFTYIFILEMLLKW | 987 |
| SCN8A | CFLIVEHNWFETFIIFMILLSSGALAFEDI>Y<IEQRKTIRTILEYADKVFTYIFILEMLLKW | 1251 |
| SCN9A | CYKIVEHSWFESFIVLMILLSSGALAFEDI>Y<IERKKTIKIILEYADKIFTYIFILEMLLKW | 1234 |
| SCN10A | CYRIVEHSWFESFIIFMILLSSGSLAFEDY>Y<LDQKPTVKALLEYTDRVFTFIFVFEMLLKW | 1205 |
| SCN11A | CYQIVKHSWFESFIIFVILLSSGALIFEDV>H<LENQPKIQELLNCTDIIFTHIFILEMVLKW | 1109 |
| CACNA1A | CHYILNLRYFEMCILMVIAMSSIALAAEDP>V<-QPNAPRNNVLRYFDYVFTGVFTFEMVIKM | 1296 |
| CACNA1B | CHYIVTMRYFEVVILVVIALSSIALAAEDP>V<-RTDSPRNNALKYLDYIFTGVFTFEMVIKM | 1203 |
| CACNA1C | CHRIVNDTIFTNLILFFILLSSISLAAEDP>V<-QHTSFRNHILFYFDIVFTTIFTIEIALKM | 952 |
| CACNA1D | CHKLINHHIFTNLILVFIMLSSAALAAEDP>I<-RSHSFRNTILGYFDYAFTAIFTVEILLKM | 958 |
| CACNA1E | CHYIVNLRYFEMCILLVIAASSIALAAEDP>V<-LTNSERNKVLRYFDYVFTGVFTFEMVIKM | 1205 |
| CACNA1F | CHTLIHHHVFTNLILVFIILSSVSLAAEDP>I<-RAHSFRNHILGYFDYAFTSIFTVEILLKM | 923 |
| CACNA1G | CHRIITHKMFDHVVLVIIFLNCITIAMERP>K<IDPHSAERIFLTLSNYIFTAVFLAEMTVKV | 1329 |
| CACNA1H | CQKVITHKMFDHVVLVFIFLNCVTIALERP>D<IDPGSTERVFLSVSNYIFTAIFVAEMMVKV | 1347 |
| CACNA1I | CQTIIAHKLFDYVVLAFIFLNCITIALERP>Q<IEAGSTERIFLTVSNYIFTAIFVGEMTLKV | 1223 |
| CACNA1S | CHRIVNATWFTNFILLFILLSSAALAAEDP>I<-RADSMRNQILKHFDIGFTSVFTVEIVLKM | 851 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Y1228H | c.3682T>C | Inherited Arrhythmia | BrS | rs199473205 | SIFT: tolerated 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 | ||
| 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 | ||||
| p.Y1228C | c.3683A>G | Putative Benign | SIFT: Polyphen: | ||