Paralogue Annotation for KCNH2 residue 7

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 7
Reference Amino Acid: H - Histidine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 7

No paralogue variants have been mapped to residue 7 for KCNH2.



KCNH2----------------------RR----G->H<VAPQNTFLDTI---IR----KFEGQSRK--28
KCNH1----------------------RR----G->L<VAPQNTFLENI---VR----RS--NDTN--29
KCNH3----------------------MR----G->L<LAPQNTFLDTI---AT----RFDGTHSN--28
KCNH4----------------------MK----G->L<LAPQNTFLDTI---AT----RFDGTHSN--28
KCNH5----------------------KR----G->L<VAPQNTFLENI---VR----RS--SESS--27
KCNH6----------------------RR----G->H<VAPQNTYLDTI---IR----KFEGQSRK--28
KCNH7----------------------RR----G->H<VAPQNTFLGTI---IR----KFEGQNKK--28
KCNH8----------------------MK----G->L<LAPQNTFLDTI---AT----RFDGTHSN--28
CNGA1----------------------SMK---NN>I<INTQQSFVTMPNVIVP----DIEKE-----30
CNGA2----------------------K------->-<TNGVK--------SSP----AN--------14
CNGA3------------------------------>-<INTQY--------SHP----SRTH------15
CNGA4------------------------------>-<------------------------------
CNGB1PEEAETESESMPPEESFKEEEVAV-----A>D<PSPQETKEAAL---TSTISLRAQGAEISEM95
CNGB3------------------------------>-<------------------------------
HCN1----------------------G------->-<---------------------GKPNS----9
HCN2------------------------------>-<--------RG-----G----GGRPGE----12
HCN3----------------------E------->-<---------------------QRPAA----9
HCN4----------------------LPPSMRKR>L<YSLPQQVGAK-----A----WIMDEE----29
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.H7Yc.19C>T UnknownSIFT:
Polyphen:
ReportsUnknown Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510