Paralogue Annotation for KCNH2 residue 236

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 236
Reference Amino Acid: G - Glycine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 236

No paralogue variants have been mapped to residue 236 for KCNH2.



KCNH2SSESLALDEVTAMDNHVAGLGPAEERRALV>G<PGS-----------------P--PRSA--P245
KCNH1------------------------------>-<------------------------------
KCNH3------------------------------>-<------------------------------
KCNH4------------------------------>-<------------------------------
KCNH5------------------------------>-<------------------------------
KCNH6---------------------PG------->-<------------------------------169
KCNH7SDDSVAMKHFKSPTKESCSPSEADDTKALI>Q<PSK-----------------CSPLVNISGP234
KCNH8------------------------------>-<------------------------------
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1KEEPEAEAEAASSGVPATKQHPEVQVEDTD>A<DSCPLMAEENPPSTVLPPPSPA---KS---498
CNGB3KN---------SSGDLTTNPDPQNAAEPTG>T<------------------------------97
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G236Vc.707G>T Putative Benignrs199472870SIFT: tolerated
Polyphen: benign
ReportsPutative Benign Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300