No paralogue variants have been mapped to residue 1948 for SCN5A.
| SCN5A | FRQ---------QAGSGLSEEDAPEREGL->I<AYVM-------------------------- | 1952 |
| SCN1A | YNK---------NKIKG--GANLLIKEDM->I<IDRI-------------------------- | 1964 |
| SCN2A | YKK---------DKGKE--CDGTPIKEDT->L<IDKL-------------------------- | 1954 |
| SCN3A | YNK---------EAIKG--RIDLPIKQDM->I<IDKL-------------------------- | 1949 |
| SCN4A | YRH---------SHDGS--GDDAPEKEGL->L<ANTM-SKMY--------------------- | 1780 |
| SCN7A | HMI---------DGDR----DVHATKEGA->Y<FDKA-------------------------- | 1672 |
| SCN8A | -------------------------KKTT->S<NKLE-------------------------- | 1926 |
| SCN9A | YIK---------DGDRD---DDLLNKKDM->A<FDNV-------------------------- | 1926 |
| SCN10A | CVP---------RAEEE---AASLPDEGF->V<AFTA-------------------------- | 1899 |
| SCN11A | --Q-----------------------NDL->-<---E-------------------------- | 1763 |
| CACNA1A | -EQDRTPLMFQRMEPPS------PTQ---->-<--EG-GP-G-------QNALPS-TQLDPGG | 2016 |
| CACNA1B | -LS----QMGPVSLFHP------LKATLE->Q<T-QPAVLRGARVFLR-QKS--S-TSLSNGG | 1925 |
| CACNA1C | -PS--------QRNALS-L-QAGLRTL-H->D<IGPE-IRRA-------ISG----DLTAEEE | 1678 |
| CACNA1D | YPA--------KNTTIA-L-QAGLRTL-H->D<IGPE-IRRA-------ISC----DLQDDEP | 1687 |
| CACNA1E | -EQ-KNAPMFQRMEPSS------LPQ---->-<--EI-IA-N-------AKALPY-LQQDPVS | 1927 |
| CACNA1F | DAA--------PSTSSA-L-QAGLRSL-Q->D<LGPE-MRQA-------LTC----DTEEEEE | 1644 |
| CACNA1G | --------------SLA------LTD---->-<--DSLP--------DDMHTLLLSALESN-M | 2021 |
| CACNA1H | PAE-SCASLQIPLAVSS------PAR---->-<--SGEPLHALSPRGTARSPSLSRLLCRQ-E | 2017 |
| CACNA1I | DLS-LEDPTACPPGRKD------SKG---->-<--ELDP-----PEPMRVGDLGECFFPLS-S | 1911 |
| CACNA1S | -RP--------KKDIVQ-I-QAGLRTI-EE>E<AAPE-ICRT-------VSG----DLAAEEE | 1583 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.I1948V | c.5842A>G | Putative Benign | rs62241186 | SIFT: tolerated Polyphen: possibly damaging |