Paralogue Annotation for SCN5A residue 1138

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1138
Reference Amino Acid: E - Glutamate
Protein Domain: Interdomain Linker II-III

Paralogue Variants mapped to SCN5A residue 1138

No paralogue variants have been mapped to residue 1138 for SCN5A.

SCN5A	--CGETPE------------------DSCS>E<GSTADMTNTAELLEQIPDLGQDVKDP----	1164
SCN1A	---KLNES------------------SSSS>E<GSTVDIGAPVE--EQPVVEPEETLEP----	1177
SCN2A	---KLN-A------------------TSSS>E<GSTVDIGAPAEG-EQPEVEPEESLEP----	1167
SCN3A	---KLN-A------------------TSSS>E<GSTVDVVLPREG-EQAETEPEEDLKP----	1165
SCN4A	---PLY-D------------------GNSS>V<CSTADYKPPEEDPEEQAEENPEGEQP----	990
SCN7A	---KIK-Q------------------SSSS>E<CSTVDIAISEEE--EM----FYGGER----	893
SCN8A	---KLD-D------------------TSSS>E<GSTIDIKPEVE--EVPVEQPEEYLDP----	1157
SCN9A	---RLN-R------------------SSSS>E<CSTVDNPLPGEG-EEAEAEPMNSDEP----	1140
SCN10A	---GVD-D------------------TSSS>E<GSTVDCLDPEEILRKIPELADDLEEP----	1111
SCN11A	PRKKSD-V-----------------TSILS>E<CSTIDLQDGFG--WLP--EMVPKKQP----	1015
CACNA1A	P--KTP-ENSLIVTNPSGTQTNSAKTARKP>D<HTTVDIPPACPPPL---------NHTVVQV	1186
CACNA1B	C--LQK-VEEQPEDADNQRNVTRMGSQPPD>P<NTIVHIPVMLTGPL---------GEATVVP	1096
CACNA1C	------------------------------>-<-----------RPL---------SEL----	865
CACNA1D	------------------------------>-<-----------RRI---------SEL----	871
CACNA1E	K--ATT-ESTSVTVAIPDVDP-------LV>D<STVVHISNKTDG------------EASPLK	1100
CACNA1F	------------------------------>-<-----------ELL---------QEV----	836
CACNA1G	------------------------------>-<-----------RAW---------IRA----	1242
CACNA1H	------------------------------>-<-----------HKV---------LEP----	1260
CACNA1I	------------------------------>-<-----------RKM---------IDV----	1136
CACNA1S	------------------------------>-<-----------RPL---------AEL----	764
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See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E1138A	c.3413A>C	Inherited Arrhythmia	LQTS	rs199473198	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	LQTS	The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833
p.E1138K	c.3412G>A	Putative Benign			SIFT: Polyphen: