Paralogue Annotation for KCNH2 residue 172

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 172
Reference Amino Acid: A - Alanine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 172

No paralogue variants have been mapped to residue 172 for KCNH2.



KCNH2---TNHRGPPTSWLAPGRAKTFRLKLPALL>A<LTARESSVRSGGAGGAGAPGAVVVDVDLTP202
KCNH1------------------CKGWG------->-<------------------------------149
KCNH3------------------WKETGGGRR--->-<------------------------------153
KCNH4------------------GRGDSNHEN--->-<------------------------------154
KCNH5------------------TKGWT------->-<------------------------------147
KCNH6-------------LAKCSSRSLSQRLLSQS>F<LGSEGSHGRPGGPG----------------167
KCNH7----N----PILPIKTVNRKFFGFKFPGLR>V<LTYRKQSLPQEDPD------VVVIDS----187
KCNH8---------------------DKKEDK--->-<------------------------------149
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1CVVSQVGVGQSEEDGTRPQSTSDQKLWEEV>G<EEAKKEAEEKAKEEAEEVAEEEAEKEPQDW440
CNGB3--------SRRNEEGSHPSNQSQQ----TT>A<QEENKGEEKSLKTKSTPVTSEEPHTNIQDK72
HCN1------------------PAGG---F---->-<------------------------------81
HCN2------------------EAGSEEAG---->-<------------------------------150
HCN3-------------------------G---->-<------------------------------41
HCN4-------------------AAGDQIL---->-<------------------------------201
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A172Vc.515C>T Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Genetic analysis, in silico prediction, and family segregation in long QT syndrome. Eur J Hum Genet. 2015 23(1):79-85. doi: 10.1038/ejhg.2014.54. 24667783