Paralogue Annotation for SCN5A residue 1015

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1015
Reference Amino Acid: E - Glutamate
Protein Domain: Interdomain Linker II-III

Paralogue Variants mapped to SCN5A residue 1015

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN4A	p.P875S	hyperkalemic periodic paralysis	Low	1

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	KPAALA-A----QGQLPSCIATPYSPPP-P>E<TEKVPPTRKETRFEEG--EQPGQG------	1037
SCN1A	ILDEIK-PLDDLNNKKDSCMSNHT------>-<-AEIGKDLDYLKDVNG--TTSGIG------	1087
SCN2A	ALDEIK-PLEDLNNKKDSCISNHT------>-<TIEIGKDLNYLKDGNG--TTSGI-------	1078
SCN3A	VI-EIH-E----GNKIDSCMSNNT------>-<GIEISKELNYLRDGNG--TTSGVG------	1075
SCN4A	IMLSLG-EADGAGEAGEAGETAPE------><DEKKEPPEEDLKKDNH--ILNHMG------	898
SCN7A	-KDTMD-HVNEVYVKED--ISDHTL----->-<-SELSNTQDFLKDKEK--S-S---------	812
SCN8A	EADEVK-PLDELYEKKANCIANHT------>-<GADIHRNGDFQKNGNG--TTSGI-------	1070
SCN9A	ISREIR-QAEDLNTKKENYISNHT------>-<LAEMSKGHNFLKEKD---KISGF-------	1051
SCN10A	AEPELVVKLPLSSSKAENHIAANT------>-<-------------ARG--SSGGLQ------	975
SCN11A	LPQQ--------KEVAGGCAAQ-------->-<SKDIIPLVMEMKRGSE--TQEELG------	898
CACNA1A	-----Y-NEMDPDERWKAAYTR-HLRPDMK>T<HLDRPLVVDPQENRN-NNTNKSRAAEPTVD	847
CACNA1B	-----Y-SEMDPEERLRFATTR-HLRPDMK>T<HLDRPLVVELGRDGA-RGPVGGKARPEAAE	841
CACNA1C	------------------------------>-<------------------------------
CACNA1D	------------------------------>-<------------------------------
CACNA1E	-----N-REEAPTMNPLNPLNP-LSSL--->-<---NPLNAHPSLYRR-PRAIEGLAL-----	838
CACNA1F	------------------------------>-<------------------------------
CACNA1G	-----K-SLLPPLIIHTAATPM-SLPKSTS>T<GLGEALGPASRRTS-SSGSAEPGA------	1079
CACNA1H	-----G-SLSPPLIMCTAATPM-PTPKS-S>P<FLDAAPSLPDSRRGSSSS-GDP-P------	1114
CACNA1I	-----L-PLGGHLGPAGAAGPA-P--RL-S>L<QPDPMLVALGSRKSSVMS-LGR-M------	960
CACNA1S	------------------------------>-<------------------------------
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E1015K	c.3043G>A	Putative Benign			SIFT: Polyphen: