Paralogue Annotation for SCN5A residue 848

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 848
Reference Amino Acid: I - Isoleucine
Protein Domain: TM Domain 2

Paralogue Variants mapped to SCN5A residue 848

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	I899T	Generalized epilepsy with febrile seizures plus	High	9	19522081, 23934111

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.

SCN5A	LAKSWPTLNTLIKIIGNSVGALGNLTLVLA>I<IVFIFAVVGMQLFGKNYSEL-RDS----D-	872
SCN1A	LAKSWPTLNMLIKIIGNSVGALGNLTLVLA>I<IVFIFAVVGMQLFGKSYKDC-VCK----I-	923
SCN2A	LAKSWPTLNMLIKIIGNSVGALGNLTLVLA>I<IVFIFAVVGMQLFGKSYKEC-VCK----I-	914
SCN3A	LAKSWPTLNMLIKIIGNSVGALGNLTLVLA>I<IVFIFAVVGMQLFGKSYKEC-VCK----I-	915
SCN4A	LAKSWPTLNMLIKIIGNSVGALGNLTLVLA>I<IVFIFAVVGMQLFGKSYKEC-VCK----I-	733
SCN7A	LGKYWPTFQILMWSLSNSWVALKDLVLLLF>T<FIFFSAAFGMKLFGKNYEEF-VCH----I-	660
SCN8A	LAKSWPTLNMLIKIIGNSVGALGNLTLVLA>I<IVFIFAVVGMQLFGKSYKEC-VCK----I-	908
SCN9A	LAKSWPTLNMLIKIIGNSVGALGNLTLVLA>I<IVFIFAVVGMQLFGKSYKEC-VCK----I-	888
SCN10A	LAKSWPTLNTLIKIIGNSVGALGNLTIILA>I<IVFVFALVGKQLLGENYRNN-RKN----I-	820
SCN11A	LAKSWPTLNTLIKIIGNSVGALGSLTVVLV>I<VIFIFSVVGMQLFGRSFNSQ-KSPKLCNPT	739
CACNA1A	VTKYWASLRNLVVSLLNSMKSIISLLFLLF>L<FIVVFALLGMQLFGGQFNFD-E--------	644
CACNA1B	VTKYWSSLRNLVVSLLNSMKSIISLLFLLF>L<FIVVFALLGMQLFGGQFNFQ-D--------	640
CACNA1C	ITRYWNSLSNLVASLLNSVRSIASLLLLLF>L<FIIIFSLLGMQLFGGKFNFD-E--------	681
CACNA1D	VTRHWTSLSNLVASLLNSMKSIASLLLLLF>L<FIIIFSLLGMQLFGGKFNFD-E--------	700
CACNA1E	ITKYWASLRNLVVSLMSSMKSIISLLFLLF>L<FIVVFALLGMQLFGGRFNFN-D--------	633
CACNA1F	VTRHWASLSNLVASLLNSMKSIASLLLLLF>L<FIIIFSLLGMQLFGGKFNFD-Q--------	686
CACNA1G	LVRFLPALQRQLVVLMKTMDNVATFCMLLM>L<FIFIFSILGMHLFGCKFASER---------	895
CACNA1H	LVRFLPALRRQLVVLVKTMDNVATFCTLLM>L<FIFIFSILGMHLFGCKFSLKTD--------	946
CACNA1I	LVRFMPALRRQLVVLMKTMDNVATFCMLLM>L<FIFIFSILGMHIFGCKFSLRTD--------	793
CACNA1S	ITKYWTSLSNLVASLLNSIRSIASLLLLLF>L<FIVIFALLGMQLFGGRYDFE-D--------	589
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I848F	c.2542A>T	Inherited Arrhythmia	LQTS	rs199473166	SIFT: deleterious Polyphen: probably 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