No paralogue variants have been mapped to residue 1988 for SCN5A.
| SCN5A | ----------------------RA-TSDN->L<QVRG-------------------------- | 1992 |
| SCN1A | ----------------------KP-IVEK->H<E----------------------------- | 1998 |
| SCN2A | ----------------------KP-EKEK->F<E----------------------------- | 1987 |
| SCN3A | ----------------------KP-DKEK->F<E----------------------------- | 1982 |
| SCN4A | ----------------------IS-PSDTA>W<P----------------------------- | 1818 |
| SCN7A | ----------------------------K->-<------------------------------ | 1675 |
| SCN8A | ----------------------KP-EKEK->Q<QRAE-------------------------- | 1962 |
| SCN9A | ----------------------KP-DKEK->Y<E----------------------------- | 1959 |
| SCN10A | ----------------------RG-LSDR->V<NMRT-------------------------- | 1936 |
| SCN11A | ----------------------SF-GVAK->-<------------------------------ | 1785 |
| CACNA1A | -------GTDLSMTTQSGDLP------SK->E<RDQERGRPKDR------------------- | 2206 |
| CACNA1B | -------SSAVGPGLPPGEGPTGC-RRER->E<RRQERGRSQERRQPSSSSS----EKQRFYS | 2130 |
| CACNA1C | LPEEDKRDIRQSPKRGFLRSA-SL-GR-R->A<SFHLECLKRQKDRGGDIS-----Q------ | 1916 |
| CACNA1D | DDSPVCYDSRRSPRRRLLPPT-PASHR-R->S<SFNFECLRRQSSQEEVPSSPIFPH------ | 1965 |
| CACNA1E | -------KSDT----------------HR->S<GGRERGRSKERKHLLSPDV----SRCN--S | 2102 |
| CACNA1F | HRAQRYMDGHLVPRRRLLPPT-PA-GR-K->P<SFTIQCLQRQGSCEDLPIPGTY-------- | 1823 |
| CACNA1G | SR------SHSKISKHMTPPA-PCPGP-E->P<NWGKGPPETRSSLELDTE------------ | 2220 |
| CACNA1H | --------------------G-PEASP-V->A<GGE--------------------------- | 2129 |
| CACNA1I | -------------RRALGPPA-PAPGP-R->A<GLS--------------------------- | 2060 |
| CACNA1S | ---------PATRGRALGQPCRVL-GP-H->S<KPCVEMLKG--------------------- | 1724 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L1988R | c.5963T>G | Inherited Arrhythmia | LQTS | rs145009013 | SIFT: tolerated Polyphen: possibly damaging |
| Reports | Other Cardiac Phenotype | Single nucleotide polymorphisms and haplotype of four genes encoding cardiac ion channels in Chinese and their association with arrhythmia. Ann Noninvasive Electrocardiol. 2008 13(2):180-90. 18426444 | |||
| Inherited Arrhythmia | LQTS | Genetic characteristics of children and adolescents with long-QT syndrome diagnosed by school-based electrocardiographic screening programs. Circ Arrhythm Electrophysiol. 2014 7(1):107-12. doi: 10.1161/CIRCEP.113.000426. 24363352 | |||