Paralogue Annotation for SCN5A residue 857

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 857
Reference Amino Acid: G - Glycine
Protein Domain: TM Domain 2

Paralogue Variants mapped to SCN5A residue 857

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1F	G674D	Night blindness, congenital stationary, incomplete	High	9	11281458, 14973233

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	TLIKIIGNSVGALGNLTLVLAIIVFIFAVV>G<MQLFGKNYSEL-RDS----D-SG---LLPR	878
SCN1A	MLIKIIGNSVGALGNLTLVLAIIVFIFAVV>G<MQLFGKSYKDC-VCK----I-AS-DCQLPR	931
SCN2A	MLIKIIGNSVGALGNLTLVLAIIVFIFAVV>G<MQLFGKSYKEC-VCK----I-SN-DCELPR	922
SCN3A	MLIKIIGNSVGALGNLTLVLAIIVFIFAVV>G<MQLFGKSYKEC-VCK----I-ND-DCTLPR	923
SCN4A	MLIKIIGNSVGALGNLTLVLAIIVFIFAVV>G<MQLFGKSYKEC-VCK----I-AL-DCNLPR	741
SCN7A	ILMWSLSNSWVALKDLVLLLFTFIFFSAAF>G<MKLFGKNYEEF-VCH----I-DK-DCQLPR	668
SCN8A	MLIKIIGNSVGALGNLTLVLAIIVFIFAVV>G<MQLFGKSYKEC-VCK----I-NQ-DCELPR	916
SCN9A	MLIKIIGNSVGALGNLTLVLAIIVFIFAVV>G<MQLFGKSYKEC-VCK----I-ND-DCTLPR	896
SCN10A	TLIKIIGNSVGALGNLTIILAIIVFVFALV>G<KQLLGENYRNN-RKN----I-SAPHEDWPR	829
SCN11A	TLIKIIGNSVGALGSLTVVLVIVIFIFSVV>G<MQLFGRSFNSQ-KSPKLCNPTGPTVSCLRH	748
CACNA1A	NLVVSLLNSMKSIISLLFLLFLFIVVFALL>G<MQLFGGQFNFD-E------------G-TPP	648
CACNA1B	NLVVSLLNSMKSIISLLFLLFLFIVVFALL>G<MQLFGGQFNFQ-D------------E-TPT	644
CACNA1C	NLVASLLNSVRSIASLLLLLFLFIIIFSLL>G<MQLFGGKFNFD-E------------MQTRR	686
CACNA1D	NLVASLLNSMKSIASLLLLLFLFIIIFSLL>G<MQLFGGKFNFD-E------------TQTKR	705
CACNA1E	NLVVSLMSSMKSIISLLFLLFLFIVVFALL>G<MQLFGGRFNFN-D------------G-TPS	637
CACNA1F	NLVASLLNSMKSIASLLLLLFLFIIIFSLL>G<MQLFGGKFNFD-Q------------THTKR	691
CACNA1G	RQLVVLMKTMDNVATFCMLLMLFIFIFSIL>G<MHLFGCKFASER---------DG-DTLPDR	903
CACNA1H	RQLVVLVKTMDNVATFCTLLMLFIFIFSIL>G<MHLFGCKFSLKTD--------TG-DTVPDR	954
CACNA1I	RQLVVLMKTMDNVATFCMLLMLFIFIFSIL>G<MHIFGCKFSLRTD--------TG-DTVPDR	801
CACNA1S	NLVASLLNSIRSIASLLLLLFLFIVIFALL>G<MQLFGGRYDFE-D------------TEVRR	594
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G857D	c.2570G>A	Putative Benign			SIFT: Polyphen: