Paralogue Annotation for SCN5A residue 1018

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1018
Reference Amino Acid: K - Lysine
Protein Domain: Interdomain Linker II-III

Paralogue Variants mapped to SCN5A residue 1018

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	E1068K	Dravet syndrome	Low	2	18930999

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	ALA-A----QGQLPSCIATPYSPPP-PETE>K<VPPTRKETRFEEG--EQPGQG---------	1037
SCN1A	EIK-PLDDLNNKKDSCMSNHT--------A>E<IGKDLDYLKDVNG--TTSGIG---------	1087
SCN2A	EIK-PLEDLNNKKDSCISNHT-------TI>E<IGKDLNYLKDGNG--TTSGI----------	1078
SCN3A	EIH-E----GNKIDSCMSNNT-------GI>E<ISKELNYLRDGNG--TTSGVG---------	1075
SCN4A	SLG-EADGAGEAGEAGETAPE-------DE>K<KEPPEEDLKKDNH--ILNHMG---------	898
SCN7A	TMD-HVNEVYVKED--ISDHTL-------S>E<LSNTQDFLKDKEK--S-S------------	812
SCN8A	EVK-PLDELYEKKANCIANHT-------GA>D<IHRNGDFQKNGNG--TTSGI----------	1070
SCN9A	EIR-QAEDLNTKKENYISNHT-------LA>E<MSKGHNFLKEKD---KISGF----------	1051
SCN10A	ELVVKLPLSSSKAENHIAANT--------->-<----------ARG--SSGGLQ---------	975
SCN11A	Q--------KEVAGGCAAQ---------SK>D<IIPLVMEMKRGSE--TQEELG---------	898
CACNA1A	--Y-NEMDPDERWKAAYTR-HLRPDMKTHL>D<RPLVVDPQENRN-NNTNKSRAAEPTVDQRL	850
CACNA1B	--Y-SEMDPEERLRFATTR-HLRPDMKTHL>D<RPLVVELGRDGA-RGPVGGKARPEAAEAPE	844
CACNA1C	------------------------------>-<------------------------------
CACNA1D	------------------------------>-<------------------------------
CACNA1E	--N-REEAPTMNPLNPLNP-LSSL------>-<NPLNAHPSLYRR-PRAIEGLAL-----GLA	841
CACNA1F	------------------------------>-<------------------------------
CACNA1G	--K-SLLPPLIIHTAATPM-SLPKSTSTGL>G<EALGPASRRTS-SSGSAEPGA---------	1079
CACNA1H	--G-SLSPPLIMCTAATPM-PTPKS-SPFL>D<AAPSLPDSRRGSSSS-GDP-P---------	1114
CACNA1I	--L-PLGGHLGPAGAAGPA-P--RL-SLQP>D<PMLVALGSRKSSVMS-LGR-M---------	960
CACNA1S	------------------------------>-<------------------------------
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K1018E	c.3052A>G	Putative Benign			SIFT: Polyphen: