No paralogue variants have been mapped to residue 1823 for SCN5A.
SCN5A | MFYEIWEKFDPEATQFIEYSVLSDFADALS>E<PLR--IAK--PNQI---SLINMDLPMVSGD | 1846 |
SCN1A | MFYEVWEKFDPDATQFMEFEKLSQFAAALE>P<PLN--LPQ--PNKL---QLIAMDLPMVSGD | 1860 |
SCN2A | MFYEVWEKFDPDATQFIEFAKLSDFADALD>P<PLL--IAK--PNKV---QLIAMDLPMVSGD | 1850 |
SCN3A | MFYEVWEKFDPDATQFIEFSKLSDFAAALD>P<PLL--IAK--PNKV---QLIAMDLPMVSGD | 1845 |
SCN4A | MFYETWEKFDPDATQFIAYSRLSDFVDTLQ>E<PLR--IAK--PNKI---KLITLDLPMVPGD | 1672 |
SCN7A | KFFQVWKRFDPDRTQYIDSSKLSDFAAALD>P<PLF--MAK--PNKG---QLIALDLPMAVGD | 1570 |
SCN8A | TFYEIWEKFDPDATQFIEYCKLADFADALE>H<PLR--VPK--PNTI---ELIAMDLPMVSGD | 1840 |
SCN9A | MFYEVWEKFDPDATQFIEFSKLSDFAAALD>P<PLL--IAK--PNKV---QLIAMDLPMVSGD | 1823 |
SCN10A | MFYETWEKFDPEATQFITFSALSDFADTLS>G<PLR--IPK--PNRN---ILIQMDLPLVPGD | 1796 |
SCN11A | IFYEVWEKFDPEATQFIKYSALSDFADALP>E<PLR--VAK--PNKY---QFLVMDLPMVSED | 1678 |
CACNA1A | EYVRVWAEYDPAACGRIHYKDMYSLLRVIS>P<PLG--LGKKCPHRVACKRLLRMDLPVADD- | 1888 |
CACNA1B | EFIRVWAEYDPAACGRISYNDMFEMLKHMS>P<PLG--LGKKCPARVAYKRLVRMNMPISNED | 1787 |
CACNA1C | EFKRIWAEYDPEAKGRIKHLDVVTLLRRIQ>P<PLG--FGKLCPHRVACKRLVSMNMPLNSDG | 1554 |
CACNA1D | EFKRIWSEYDPEAKGRIKHLDVVTLLRRIQ>P<PLG--FGKLCPHRVACKRLVAMNMPLNSDG | 1562 |
CACNA1E | EFVRVWAEYDRAACGRIHYTEMYEMLTLMS>P<PLG--LGKRCPSKVAYKRLVLMNMPVAED- | 1800 |
CACNA1F | EFKRIWSEYDPGAKGRIKHLDVVALLRRIQ>P<PLG--FGKLCPHRVACKRLVAMNMPLNSDG | 1519 |
CACNA1G | AELELEMKT-LSPQPHSPLGSPF-LWPGVE>G<PDS--PDSPKPGAL---------HPAAHA- | 1915 |
CACNA1H | AEIELEMAQGPGSARRVDADRP-------->-<PLP--QESPG--AR--------DAPN---- | 1913 |
CACNA1I | AELELEMAHGLGPGPRLPTGSPGAPGR--->G<PGGAGGGGDT--EG---GLCRRCYSPAQE- | 1799 |
CACNA1S | EFKAIWAEYDPEAKGRIKHLDVVTLLRRIQ>P<PLG--FGKFCPHRVACKRLVGMNMPLNSDG | 1459 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1823K | c.5467G>A | Putative Benign | SIFT: Polyphen: |