Paralogue Annotation for KCNH2 residue 1042

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 1042
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 1042

No paralogue variants have been mapped to residue 1042 for KCNH2.



KCNH2TP-SLLN----IPL-SSPGRRPRGDV-ESR>L<DALQRQLNRLETRLSADMATVLQ-------1065
KCNH1KA-ESME----TLP-E------RTKA-S-->-<--GEATLKKTDSCDSGITKSDLR-------890
KCNH3E--CSSSPSPGPES-G----LLTVPH-GPS>E<ARNTDTLDKLRQAVTELSEQVLQ-------894
KCNH4RP-RSQA----PPT-GTRP-SPELAS-EAE>E<VK--EKVCRLNQEISRLNQEVSQ-------896
KCNH5KA-ESMG----LLS-EDPKSSDSENS-V-->-<--TKNPLRKTDSCDSGITKSDLR-------874
KCNH6SN-DLAL----VPI-ASETTSPGPRL-P-->-<---QGFLPPAQTPSYGDLDDCSP-------909
KCNH7T----------------ESDLTYGEV-EQR>L<DLLQEQLNRLESQMTTDIQTILQ-------1058
KCNH8EP-RISP-----PLGDPEIGAAVLFI-KAE>E<TK--QQINKLNSEVTTLTQEVSQ-------883
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1-----G------SP-PSSPPPAS------->-<------------------------------1204
CNGB3ECTA-S------PI-AVEEEPHS------->-<------------------------------769
HCN1QQPS-PQPQTPG---S--STPKNEVH-KST>Q<ALHNTNLTREVRPLSASQPSLPHEVSTLIS802
HCN2--TS--------------PYGGLPAAPLAG>P<ALPARRLSRASRPLSASQPSLPHGAPGPAA836
HCN3Q-VSLLG--PP---------P--------->-<GGGGRRLGPRGRPLSASQPSLPQRATGDGS728
HCN4H-GSLLL--PPASS-P--PPPQVPQR-RGT>P<PLTPGRLTQDLKLISASQPALPQDGAQTLR1102
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Leu1042Proc.3125T>C UnknownSIFT:
Polyphen: