Paralogue Annotation for KCNH2 residue 948

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 948
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 948

No paralogue variants have been mapped to residue 948 for KCNH2.



KCNH2GESPSSGPSS-------PESSEDEGP---G>R<SSSPLRLVPFSSP-RPPGEPPGGEPLMEDC977
KCNH1GNVLTEHASA-------NHSLVKASV---V>T<VRESPATPVSFQA-ASTSGVPDHAKLQAPG818
KCNH3LSPGCTSSSSAAKLLSPRRTAPRPRL---G>G<RGRPGRAGALKAE-AGPSAPPRALEG----806
KCNH4PR--GSLVSLLGEELPPFSALVSSPS---L>S<PSLSPALAGQGHS-ASPHGPPRCSAAWKPP808
KCNH5RSLQNGASIT-------GTSVVTVSQ---I>T<PIQTSLAYVKTSE-SLKQNNRDAMELKPNG788
KCNH6APG-HPDAAP-------PLSISDASG---L>W<PELLQEMPPRHSP-QSPQEDPDCWPLKLGS824
KCNH7EEKKSRSSSF-------ISSIDDEQK---P>L<FSGIVDSSPGIGK-ASGLDFEETVPTSGRM977
KCNH8NKKVGSNKAYLGLSLKQLASGT-VPF---H>S<PIRVSRSNSPKTK-QEIDPPNHNKRKEKNL794
CNGA1TEFSSIEGPG---------AESGPID---S>-<------------------------------689
CNGA2DDYLSDGMNS---------PELAAAD---E>-<------------------------------663
CNGA3DKPLADGEVPG-------DATKTEDK---Q>-<------------------------------693
CNGA4DLAEADDEGE---------PEEGTSK---D>E<------------------------------562
CNGB1QAKSSQDVKGE-------EGSAAPDQ---->-<------HTHPKEA-----------------1179
CNGB3EGKENEDKQKE-------NEDKQKEN---->-<------EDKGKE------------------736
HCN1RMRTQSPPVYT-------ATSLSHSNL-H->-<------S-----------------------680
HCN2ATLQQAAAMSF-------CPQVARPLVGP->-<------------------------------749
HCN3HAPLQAAAVTS-------NVAIALTHQRG->-<------P-----------------------630
HCN4QAPLQAAAATT-------SVAIALTHHPRL>P<AAIFRPPPGSGLGNLGAGQTPRHLKRLQSL832
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R948Cc.2842C>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaLQTS Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. Clin Genet. 2006 70(3):214-27. 16922724
p.R948Hc.2843G>A Inherited ArrhythmiaLQTSSIFT: tolerated
Polyphen: possibly damaging
ReportsInherited ArrhythmiaLQTS Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. Heart Rhythm. 2010 7(10):1411-8. 20541041
p.R948Sc.2842C>A Inherited ArrhythmiaLQTSSIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. Heart Rhythm. 2010 7(10):1411-8. 20541041