Paralogue Annotation for KCNH2 residue 31

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 31
Reference Amino Acid: I - Isoleucine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 31

No paralogue variants have been mapped to residue 31 for KCNH2.



KCNH2---IR----KFEGQSRK-----------FI>I<ANA-RVEN-CAVI-YCNDGFCELCGYSRAE58
KCNH1---VR----RS--NDTN-----------FV>L<GNA-QIVD-WPIV-YSNDGFCKLSGYHRAE59
KCNH3---AT----RFDGTHSN-----------FV>L<GNA-QVAGLFPVV-YCSDGFCDLTGFSRAE59
KCNH4---AT----RFDGTHSN-----------FL>L<ANA-QGTRGFPIV-YCSDGFCELTGYGRTE59
KCNH5---VR----RS--SESS-----------FL>L<GNA-QIVD-WPVV-YSNDGFCKLSGYHRAD57
KCNH6---IR----KFEGQSRK-----------FL>I<ANA-QMEN-CAII-YCNDGFCELFGYSRVE58
KCNH7---IR----KFEGQNKK-----------FI>I<ANA-RVQN-CAII-YCNDGFCEMTGFSRPD58
KCNH8---AT----RFDGTHSN-----------FI>L<ANA-QVAKGFPIV-YCSDGFCELAGFARTE59
CNGA1NVIVP----DIEKE------------I--->-<------------R-RMEN------------36
CNGA2--SSP----AN------------------->-<---------------NHNHHA------PPA23
CNGA3--SHP----SRTH-------------L--->-<------------KVKTSD------------22
CNGA4------------------------------>-<------------------------------
CNGB1---TSTISLRAQGAEISEMNSPSRRVLTWL>M<KGVEKVIP-QPVH-SITE------------123
CNGB3------------------------------>-<------------------------------
HCN1----------GKPNS--------------->-<------------------------------9
HCN2----G----GGRPGE--------------->-<------------------------------12
HCN3----------QRPAA--------------->-<------------------------------9
HCN4----A----WIMDEE--------------->-<----------------EDAEEEG-AGGRQD42
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I31Sc.92T>G Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476
Inherited ArrhythmiaLQTS Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome. Heart Rhythm. 2004 1(1):60-4. 15851119
Inherited ArrhythmiaLQTS Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation. 2006 113(3):365-73. 16432067
Inherited ArrhythmiaLQTS An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. Circ Res. 2013 112(5):826-30. doi: 10.1161/CIRCRESAHA.112.300664. 23303164
p.I31Tc.92T>C Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Genotype-phenotype aspects of type 2 long QT syndrome. J Am Coll Cardiol. 2009 54(22):2052-62. 19926013
Inherited ArrhythmiaLQTS Development of a high resolution melting method for the detection of genetic variations in Long QT Syndrome. Clin Chim Acta. 2011 412(1-2):203-7. 20851114