Paralogue Annotation for KCNH2 residue 334

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 334
Reference Amino Acid: P - Proline
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 334

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGB3K148EAchromatopsiaLow1 12357335

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNH2.



KCNH2AMHPLRSGLLNSTSDSDLVRYR---TISKI>P<QITLNFVDLKGDPFLASP-T-SDREII-AP361
KCNH1-------------------KFA-------->-<---------RLTRALTSS-R-GVLQQL-AP170
KCNH3--------------------S--------->-<--------KGFNANRRRS-R-AVLYHL-SG179
KCNH4--------------------A--------->-<-------TWKFRSARRRS-R-TVLHRL-TG181
KCNH5-------------------KFA-------->-<---------RLTRALTNS-R-SVLQQL-TP168
KCNH6---------------TGRGKYR---TISQI>P<QFTLNFVEFNLEKHRSSS-T-TEIEII-AP209
KCNH7PFNHIKSSLLGSTSDSNLNKYS---TINKI>P<QLTLNFSEVKTEKKNSSPPS-SDKTII-AP361
KCNH8--------------------A--------->-<-------GTHFDSARRRS-R-AVLYHI-SG176
CNGA1------------------------------>-<-----KKK-KKKEKKSKS-D-DKNENKNDP126
CNGA2------------------------------>-<-----FLE-RFRGPELQT-V-TTQEGDGKG115
CNGA3------------------------------>-<-----FPD-RFRGAELKE-V-SSQESNAQ-118
CNGA4------------------------------>-<--------------KVKT-T-ES-------12
CNGB1STASTNSAIINDRLQELVKLFKERTEKV-K>E<KLIDPDVTSDEE-SPKPSPA-KKAPEP-AP611
CNGB3PAAPVINEYADAQLHNLVKRMRQRTALY-K>K<KLVEGDLSS-----PEASPQ-TAKPTA-VP171
HCN1------------------------------>-<---------EDAEGPR-R-QYGFMQRQ--F98
HCN2------------------------------>-<---------PAGEPRG-S-QASFMQRQ--F167
HCN3------------------------------>-<---------PE------P-----KRRH--L49
HCN4------------------------------>-<---------PEAEVRL-G-QAGFMQRQ--F218
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P334Lc.1001C>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Notched T waves on Holter recordings enhance detection of patients with LQt2 (HERG) mutations. Circulation. 2001 103(8):1095-101. 11222472