Paralogue Annotation for KCNH2 residue 137

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 137
Reference Amino Acid: M - Methionine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNH2 residue 137

No paralogue variants have been mapped to residue 137 for KCNH2.

KCNH2	----PVK---NEDGAVIMFILNFEVVMEKD>M<-VG---------------------------	139
KCNH1	----PIR---NEQDKVVLFLCTFSDITAFK>Q<-PI---------------------------	140
KCNH3	----PIK---NEKGEVALFLVSHKDISETK>-<NRG---------------------------	140
KCNH4	----PIK---NEMGEVVLFLFSFKDITQSG>S<PGL---------------------------	141
KCNH5	----PIR---NEHEKVVLFLCTFKDITLFK>Q<-PI---------------------------	138
KCNH6	----PVK---NEDGAVIMFILNFEDLAQL->-<------------------------------	135
KCNH7	----PVK---NQEGVAMMFIINFEYVTDNE>N<-AA---------------------------	139
KCNH8	----PIK---NEKGDVVLFLASFKDITDTK>-<VKI---------------------------	140
CNGA1	----PSQREQYLPGAIALFNVNNSSNKDQ->-<------------------------------	100
CNGA2	-----FRRIVRLVGIIREWANKNFREEEP->-<------------------------------	89
CNGA3	-----IARLSRLIFLLRRWAARHVHHQDQ->-<------------------------------	93
CNGA4	---------------------------DT->-<------------------------------	5
CNGB1	VLHGKIG---EQEPDSPGICDVQTISILPG>G<---QVEPDLVLEEVEPPWEDAHQDVSTSPQ	325
CNGB3	------------------------------>-<------------------------------
HCN1	------------------------GGGGGG>G<-GGG--------------------------	72
HCN2	------------------------GAASGP>A<-PGP--------------------------	138
HCN3	------------------------TAASGP>I<-PKS--------------------------	40
HCN4	------------------------QPSVDT>A<-IKV--------------------------	190
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M137I	c.411G>T	Putative Benign		rs41307319	SIFT: tolerated Polyphen: benign