No paralogue variants have been mapped to residue 1004 for SCN5A.
SCN5A | ---GLLRQ-RPQKPAALA-A----QGQLPS>C<IATPYSPPP-PETEKVPPTRKETRFEEG-- | 1031 |
SCN1A | ---QSFIR-KQKILDEIK-PLDDLNNKKDS>C<MSNHT--------AEIGKDLDYLKDVNG-- | 1081 |
SCN2A | ---KAFVR-KQKALDEIK-PLEDLNNKKDS>C<ISNHT-------TIEIGKDLNYLKDGNG-- | 1073 |
SCN3A | ---KAFFR-KPKVI-EIH-E----GNKIDS>C<MSNNT-------GIEISKELNYLRDGNG-- | 1069 |
SCN4A | ---GKILS-PKDIMLSLG-EADGAGEAGEA>G<ETAPE-------DEKKEPPEEDLKKDNH-- | 892 |
SCN7A | ---NVP-------KDTMD-HVNEVYVKED->-<ISDHTL-------SELSNTQDFLKDKEK-- | 810 |
SCN8A | ---AHFKQ-R--EADEVK-PLDELYEKKAN>C<IANHT-------GADIHRNGDFQKNGNG-- | 1065 |
SCN9A | ---KAFSK-KPKISREIR-QAEDLNTKKEN>Y<ISNHT-------LAEMSKGHNFLKEKD--- | 1046 |
SCN10A | ---RSCPFPQPKAEPELVVKLPLSSSKAEN>H<IAANT--------------------ARG-- | 969 |
SCN11A | ---KWCRK-Q-NLPQQ--------KEVAGG>C<AAQ---------SKDIIPLVMEMKRGSE-- | 892 |
CACNA1A | NLLASREA-L-------Y-NEMDPDERWKA>A<YTR-HLRPDMKTHLDRPLVVDPQENRN-NN | 835 |
CACNA1B | NLRASCEA-L-------Y-SEMDPEERLRF>A<TTR-HLRPDMKTHLDRPLVVELGRDGA-RG | 829 |
CACNA1C | ------------------------------>-<------------------------------ | |
CACNA1D | ------------------------------>-<------------------------------ | |
CACNA1E | MQMSSQEA-L-------N-REEAPTMNPLN>P<LNP-LSSL-------NPLNAHPSLYRR-PR | 831 |
CACNA1F | ------------------------------>-<------------------------------ | |
CACNA1G | SLGEHPEL-R-------K-SLLPPLIIHTA>A<TPM-SLPKSTSTGLGEALGPASRRTS-SSG | 1073 |
CACNA1H | TPNGHLEG-R-------G-SLSPPLIMCTA>A<TPM-PTPKS-SPFLDAAPSLPDSRRGSSSS | 1110 |
CACNA1I | TPNGHLDP-S-------L-PLGGHLGPAGA>A<GPA-P--RL-SLQPDPMLVALGSRKSSVMS | 956 |
CACNA1S | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.C1004R | c.3010T>C | Inherited Arrhythmia | LQTS | rs199473183 | SIFT: tolerated Polyphen: possibly damaging |
Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||
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 |