Paralogue Annotation for SCN5A residue 1033

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1033
Reference Amino Acid: Q - Glutamine
Protein Domain: Interdomain Linker II-III

Paralogue Variants mapped to SCN5A residue 1033

No paralogue variants have been mapped to residue 1033 for SCN5A.

SCN5A	ATPYSPPP-PETEKVPPTRKETRFEEG--E>Q<PGQG--------------------------	1037
SCN1A	SNHT--------AEIGKDLDYLKDVNG--T>T<SGIG--------------------------	1087
SCN2A	SNHT-------TIEIGKDLNYLKDGNG--T>T<SGI---------------------------	1078
SCN3A	SNNT-------GIEISKELNYLRDGNG--T>T<SGVG--------------------------	1075
SCN4A	TAPE-------DEKKEPPEEDLKKDNH--I>L<NHMG--------------------------	898
SCN7A	SDHTL-------SELSNTQDFLKDKEK--S>-<S-----------------------------	812
SCN8A	ANHT-------GADIHRNGDFQKNGNG--T>T<SGI---------------------------	1070
SCN9A	SNHT-------LAEMSKGHNFLKEKD---K>I<SGF---------------------------	1051
SCN10A	AANT--------------------ARG--S>S<GGLQ--------------------------	975
SCN11A	AQ---------SKDIIPLVMEMKRGSE--T>Q<EELG--------------------------	898
CACNA1A	TR-HLRPDMKTHLDRPLVVDPQENRN-NNT>N<KSRAAEPTVDQRLGQQ-RAED--FLRKQAR	864
CACNA1B	TR-HLRPDMKTHLDRPLVVELGRDGA-RGP>V<GGKARPEAAEAPEGVD-PP------RRHHR	854
CACNA1C	------------------------------>-<----------------EKKQELVE---K--	793
CACNA1D	------------------------------>-<----------------ENKKN--N---K--	810
CACNA1E	NP-LSSL-------NPLNAHPSLYRR-PRA>I<EGLAL-----GLALEKFEEER--ISRGGSL	856
CACNA1F	------------------------------>-<----------------V-------------	790
CACNA1G	PM-SLPKSTSTGLGEALGPASRRTS-SSGS>A<EPGA--------------------------	1079
CACNA1H	PM-PTPKS-SPFLDAAPSLPDSRRGSSSS->G<DP-P--------------------------	1114
CACNA1I	PA-P--RL-SLQPDPMLVALGSRKSSVMS->L<GR-M--------------------------	960
CACNA1S	------------------------------>-<----------------EEKST--M---A--	702
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q1033R	c.3098A>G	Inherited Arrhythmia	LQTS	rs199473641	SIFT: tolerated Polyphen: benign
Reports		Inherited Arrhythmia	LQTS	[The clinical variability of and approaches to treatment of life-threatening ventricular arrhythmias caused by SCN5A gene mutations]. Vestn Ross Akad Med Nauk. 2007 (5):3-11. 17605181