Paralogue Annotation for KCNH2 residue 1063

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 1063
Reference Amino Acid: V - Valine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 1063

No paralogue variants have been mapped to residue 1063 for KCNH2.



KCNH2PRGDV-ESRLDALQRQLNRLETRLSADMAT>V<LQ--------------LLQRQMTLVPPAYS1079
KCNH1-RTKA-S-----GEATLKKTDSCDSGITKS>D<LR--------------LDNVGEARSPQDRS904
KCNH3LTVPH-GPSEARNTDTLDKLRQAVTELSEQ>V<LQ--------------MREGLQSLRQAVQL908
KCNH4PELAS-EAEEVK--EKVCRLNQEISRLNQE>V<SQ--------------LSRELRHIMGLLQA910
KCNH5DSENS-V-----TKNPLRKTDSCDSGITKS>D<LR--------------LDKAGEARSPLEHS888
KCNH6PGPRL-P------QGFLPPAQTPSYGDLDD>C<SP--------------KHRNSSPRMP--HL921
KCNH7TYGEV-EQRLDLLQEQLNRLESQMTTDIQT>I<LQ--------------LLQKQTTVVPPAYS1072
KCNH8AVLFI-KAEETK--QQINKLNSEVTTLTQE>V<SQ--------------LGKDMRNVIQLLEN897
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1AS---------------------------->-<------------------------------1204
CNGB3HS---------------------------->-<------------------------------769
HCN1KNEVH-KSTQALHNTNLTREVRPLSASQPS>L<PHEVSTLISRPHPTVG----ESLASIPQPV819
HCN2GLPAAPLAGPALPARRLSRASRPLSASQPS>L<PHGAPGPAASTRPAS---------------842
HCN3----------GGGGRRLGPRGRPLSASQPS>L<PQRATGDGSPGRKGS---------------734
HCN4QVPQR-RGTPPLTPGRLTQDLKLISASQPA>L<PQDGAQTLRRASPHSSGESMAAFPLFPRAG1123
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V1063Lc.3187G>C Putative Benignrs139722868SIFT: deleterious
Polyphen: possibly damaging