Paralogue Annotation for KCNH2 residue 203

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 203
Reference Amino Acid: A - Alanine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 203

No paralogue variants have been mapped to residue 203 for KCNH2.



KCNH2LTARESSVRSGGAGGAGAPGAVVVDVDLTP>A<APSSESLALDEVTAMDNHVAGLGPAEERRA233
KCNH1------------------------------>-<------------------------------
KCNH3------------------------------>-<------------------------------
KCNH4------------------------------>-<------------------------------
KCNH5------------------------------>-<------------------------------
KCNH6LGSEGSHGRPGGPG---------------->-<-----------------------PG-----169
KCNH7LTYRKQSLPQEDPD------VVVIDS---->S<KHSDDSVAMKHFKSPTKESCSPSEADDTKA218
KCNH8------------------------------>-<------------------------------
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1EEAKKEAEEKAKEEAEEVAEEEAEKEPQDW>A<ETKEEPEAEAEAASSGVPATKQHPEVQVED471
CNGB3QEENKGEEKSLKTKSTPVTSEEPHTNIQDK>L<SKKN---------SSGDLTTNPDPQNAAEP94
HCN1------------------------------>-<------------------------------
HCN2------------------------------>-<------------------------------
HCN3------------------------------>-<------------------------------
HCN4------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A203Tc.607G>A Putative Benignrs199472868SIFT: tolerated
Polyphen: benign
ReportsPutative Benign Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003 78(12):1479-87. 14661677
Putative Benign Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300