No paralogue variants have been mapped to residue 1828 for SCN5A.
SCN5A | KFDPEATQFIEYSVLSDFADALSEPLR--I>A<K--PNQI---SLINMDLPMVSGD-RIHCMD | 1852 |
SCN1A | KFDPDATQFMEFEKLSQFAAALEPPLN--L>P<Q--PNKL---QLIAMDLPMVSGD-RIHCLD | 1866 |
SCN2A | KFDPDATQFIEFAKLSDFADALDPPLL--I>A<K--PNKV---QLIAMDLPMVSGD-RIHCLD | 1856 |
SCN3A | KFDPDATQFIEFSKLSDFAAALDPPLL--I>A<K--PNKV---QLIAMDLPMVSGD-RIHCLD | 1851 |
SCN4A | KFDPDATQFIAYSRLSDFVDTLQEPLR--I>A<K--PNKI---KLITLDLPMVPGD-KIHCLD | 1678 |
SCN7A | RFDPDRTQYIDSSKLSDFAAALDPPLF--M>A<K--PNKG---QLIALDLPMAVGD-RIHCLD | 1576 |
SCN8A | KFDPDATQFIEYCKLADFADALEHPLR--V>P<K--PNTI---ELIAMDLPMVSGD-RIHCLD | 1846 |
SCN9A | KFDPDATQFIEFSKLSDFAAALDPPLL--I>A<K--PNKV---QLIAMDLPMVSGD-RIHCLD | 1829 |
SCN10A | KFDPEATQFITFSALSDFADTLSGPLR--I>P<K--PNRN---ILIQMDLPLVPGD-KIHCLD | 1802 |
SCN11A | KFDPEATQFIKYSALSDFADALPEPLR--V>A<K--PNKY---QFLVMDLPMVSED-RLHCMD | 1684 |
CACNA1A | EYDPAACGRIHYKDMYSLLRVISPPLG--L>G<KKCPHRVACKRLLRMDLPVADD-NTVHFNS | 1895 |
CACNA1B | EYDPAACGRISYNDMFEMLKHMSPPLG--L>G<KKCPARVAYKRLVRMNMPISNEDMTVHFTS | 1794 |
CACNA1C | EYDPEAKGRIKHLDVVTLLRRIQPPLG--F>G<KLCPHRVACKRLVSMNMPLNSDG-TVMFNA | 1560 |
CACNA1D | EYDPEAKGRIKHLDVVTLLRRIQPPLG--F>G<KLCPHRVACKRLVAMNMPLNSDG-TVMFNA | 1568 |
CACNA1E | EYDRAACGRIHYTEMYEMLTLMSPPLG--L>G<KRCPSKVAYKRLVLMNMPVAED-MTVHFTS | 1807 |
CACNA1F | EYDPGAKGRIKHLDVVALLRRIQPPLG--F>G<KLCPHRVACKRLVAMNMPLNSDG-TVTFNA | 1525 |
CACNA1G | KT-LSPQPHSPLGSPF-LWPGVEGPDS--P>D<SPKPGAL---------HPAAHA-RSASHFS | 1922 |
CACNA1H | AQGPGSARRVDADRP---------PLP--Q>E<SPG--AR--------DAPN----------- | 1913 |
CACNA1I | AHGLGPGPRLPTGSPGAPGR---GPGGAGG>G<GDT--EG---GLCRRCYSPAQE-N--LWLD | 1804 |
CACNA1S | EYDPEAKGRIKHLDVVTLLRRIQPPLG--F>G<KFCPHRVACKRLVGMNMPLNSDG-TVTFNA | 1465 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1828T | c.5482G>A | Putative Benign | SIFT: Polyphen: |