Paralogue Annotation for KCNH2 residue 967

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 967
Reference Amino Acid: P - Proline
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 967

No paralogue variants have been mapped to residue 967 for KCNH2.



KCNH2SEDEGP---GRSSSPLRLVPFSSP-RPPGE>P<PGGEPLMEDC--------------------977
KCNH1LVKASV---VTVRESPATPVSFQA-ASTSG>V<PDHAKLQAPGS-------------------819
KCNH3APRPRL---GGRGRPGRAGALKAE-AGPSA>P<PRALEG------------------------806
KCNH4LVSSPS---LSPSLSPALAGQGHS-ASPHG>P<PRCSAAWKPPQ-------------------809
KCNH5VVTVSQ---ITPIQTSLAYVKTSE-SLKQN>N<RDAMELKPNGG-------------------789
KCNH6ISDASG---LWPELLQEMPPRHSP-QSPQE>D<PDCWPLKLGSR-------------------825
KCNH7IDDEQK---PLFSGIVDSSPGIGK-ASGLD>F<EETVPTSGRMH-------------------978
KCNH8GT-VPF---HSPIRVSRSNSPKTK-QEIDP>P<NHNKRKEKNLK-------------------795
CNGA1ESGPID---S-------------------->-<------------------------------689
CNGA2ELAAAD---E-------------------->-<------------------------------663
CNGA3TKTEDK---Q-------------------->-<------------------------------693
CNGA4EEGTSK---DE------------------->-<------------------------------562
CNGB1SAAPDQ-----------HTHPKEA------>-<------------------------------1179
CNGB3DKQKEN-----------EDKGKE------->-<------------------------------736
HCN1SLSHSNL-H--------S------------>-<------------------------------680
HCN2QVARPLVGP--------------------->-<------------------------------749
HCN3AIALTHQRG--------P------------>-<------------------------------630
HCN4AIALTHHPRLPAAIFRPPPGSGLGNLGAGQ>T<PRHLKRLQSLIPSALGSASPASSPSQVDTP852
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P967Lc.2900C>T Putative Benignrs199473016SIFT: 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