No paralogue variants have been mapped to residue 1008 for SCN5A.
| SCN5A | LLRQ-RPQKPAALA-A----QGQLPSCIAT>P<YSPPP-PETEKVPPTRKETRFEEG--EQPG | 1035 |
| SCN1A | SFIR-KQKILDEIK-PLDDLNNKKDSCMSN>H<T--------AEIGKDLDYLKDVNG--TTSG | 1085 |
| SCN2A | AFVR-KQKALDEIK-PLEDLNNKKDSCISN>H<T-------TIEIGKDLNYLKDGNG--TTSG | 1077 |
| SCN3A | AFFR-KPKVI-EIH-E----GNKIDSCMSN>N<T-------GIEISKELNYLRDGNG--TTSG | 1073 |
| SCN4A | KILS-PKDIMLSLG-EADGAGEAGEAGETA>P<E-------DEKKEPPEEDLKKDNH--ILNH | 896 |
| SCN7A | VP-------KDTMD-HVNEVYVKED--ISD>H<TL-------SELSNTQDFLKDKEK--S-S- | 812 |
| SCN8A | HFKQ-R--EADEVK-PLDELYEKKANCIAN>H<T-------GADIHRNGDFQKNGNG--TTSG | 1069 |
| SCN9A | AFSK-KPKISREIR-QAEDLNTKKENYISN>H<T-------LAEMSKGHNFLKEKD---KISG | 1050 |
| SCN10A | SCPFPQPKAEPELVVKLPLSSSKAENHIAA>N<T--------------------ARG--SSGG | 973 |
| SCN11A | WCRK-Q-NLPQQ--------KEVAGGCAAQ>-<--------SKDIIPLVMEMKRGSE--TQEE | 896 |
| CACNA1A | SREA-L-------Y-NEMDPDERWKAAYTR>-<HLRPDMKTHLDRPLVVDPQENRN-NNTNKS | 839 |
| CACNA1B | SCEA-L-------Y-SEMDPEERLRFATTR>-<HLRPDMKTHLDRPLVVELGRDGA-RGPVGG | 833 |
| CACNA1C | ------------------------------>-<------------------------------ | |
| CACNA1D | ------------------------------>-<------------------------------ | |
| CACNA1E | SQEA-L-------N-REEAPTMNPLNPLNP>-<LSSL-------NPLNAHPSLYRR-PRAIEG | 835 |
| CACNA1F | ------------------------------>-<------------------------------ | |
| CACNA1G | HPEL-R-------K-SLLPPLIIHTAATPM>-<SLPKSTSTGLGEALGPASRRTS-SSGSAEP | 1077 |
| CACNA1H | HLEG-R-------G-SLSPPLIMCTAATPM>-<PTPKS-SPFLDAAPSLPDSRRGSSSS-GDP | 1113 |
| CACNA1I | HLDP-S-------L-PLGGHLGPAGAAGPA>-<P--RL-SLQPDPMLVALGSRKSSVMS-LGR | 959 |
| CACNA1S | ------------------------------>-<------------------------------ | |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P1008S | c.3022C>T | Other Cardiac Phenotype | rs199473184 | SIFT: tolerated Polyphen: benign | |
| Reports | Other Cardiac Phenotype | Dual variation in SCN5A and CACNB2b underlies the development of cardiac conduction disease without Brugada syndrome. Pacing Clin Electrophysiol. 2010 33(3):274-85. 20025708 | |||
| p.P1008L | c.3023C>T | Putative Benign | SIFT: Polyphen: | ||