Paralogue Annotation for KCNH2 residue 125

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 125
Reference Amino Acid: F - Phenylalanine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 125

No paralogue variants have been mapped to residue 125 for KCNH2.



KCNH2----------------PVK---NEDGAVIM>F<ILNFEVVMEKDM-VG---------------139
KCNH1----------------PIR---NEQDKVVL>F<LCTFSDITAFKQ-PI---------------140
KCNH3----------------PIK---NEKGEVAL>F<LVSHKDISETK-NRG---------------140
KCNH4----------------PIK---NEMGEVVL>F<LFSFKDITQSGSPGL---------------141
KCNH5----------------PIR---NEHEKVVL>F<LCTFKDITLFKQ-PI---------------138
KCNH6----------------PVK---NEDGAVIM>F<ILNFEDLAQL--------------------135
KCNH7----------------PVK---NQEGVAMM>F<IINFEYVTDNEN-AA---------------139
KCNH8----------------PIK---NEKGDVVL>F<LASFKDITDTK-VKI---------------140
CNGA1----------------PSQREQYLPGAIAL>F<NVNNSSNKDQ--------------------100
CNGA2-----------------FRRIVRLVGIIRE>W<ANKNFREEEP--------------------89
CNGA3-----------------IARLSRLIFLLRR>W<AARHVHHQDQ--------------------93
CNGA4------------------------------>-<--------DT--------------------5
CNGB1VLHRLEMALPQPVLHGKIG---EQEPDSPG>I<CDVQTISILPGG---QVEPDLVLEEVEPPW313
CNGB3------------------------------>-<------------------------------
HCN1------------------------------>-<-----GGGGGGG-GGG--------------72
HCN2------------------------------>-<-----GAASGPA-PGP--------------138
HCN3------------------------------>-<-----TAASGPI-PKS--------------40
HCN4------------------------------>-<-----QPSVDTA-IKV--------------190
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F125Cc.374T>G Inherited ArrhythmiaLQTSrs199473499SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085
Inherited ArrhythmiaLQTS Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810