Paralogue Annotation for KCNH2 residue 977

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 977
Reference Amino Acid: C - Cysteine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 977

No paralogue variants have been mapped to residue 977 for KCNH2.



KCNH2RSSSPLRLVPFSSP-RPPGEPPGGEPLMED>C<------------------------------977
KCNH1TVRESPATPVSFQA-ASTSGVPDHAKLQAP>G<S-----------------------------819
KCNH3GRGRPGRAGALKAE-AGPSAPPRALEG--->-<------------------------------806
KCNH4SPSLSPALAGQGHS-ASPHGPPRCSAAWKP>P<Q-----------------------------809
KCNH5TPIQTSLAYVKTSE-SLKQNNRDAMELKPN>G<G-----------------------------789
KCNH6WPELLQEMPPRHSP-QSPQEDPDCWPLKLG>S<R-----------------------------825
KCNH7LFSGIVDSSPGIGK-ASGLDFEETVPTSGR>M<H-----------------------------978
KCNH8SPIRVSRSNSPKTK-QEIDPPNHNKRKEKN>L<K-----------------------------795
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4E----------------------------->-<------------------------------562
CNGB1-------HTHPKEA---------------->-<------------------------------1179
CNGB3-------EDKGKE----------------->-<------------------------------736
HCN1-------S---------------------->-<------------------------------680
HCN2------------------------------>-<------------------------------
HCN3-------P---------------------->-<------------------------------630
HCN4PAAIFRPPPGSGLGNLGAGQTPRHLKRLQS>L<IPSALGSASPASSPSQVDTPSSSSFHIQQL862
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.C977Sc.2930G>C Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Genetic characteristics of children and adolescents with long-QT syndrome diagnosed by school-based electrocardiographic screening programs. Circ Arrhythm Electrophysiol. 2014 7(1):107-12. doi: 10.1161/CIRCEP.113.000426. 24363352
p.C977Fc.2930G>T Putative BenignSIFT:
Polyphen:
p.C977Wc.2931C>G Putative BenignSIFT: tolerated
Polyphen: benign