Paralogue Annotation for KCNH2 residue 1139

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 1139
Reference Amino Acid: P - Proline
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 1139

No paralogue variants have been mapped to residue 1139 for KCNH2.



KCNH2-------------EG--------PTRRLSL>P<GQL---GALTSQP-LHRHGSDPG-------1158
KCNH1------------------------------>S<QSP---QELFEISRPQSPESERDIFGA---988
KCNH3ASGDLCSEPSTPAS-------PPPSEEGAR>-<TGP---AEPVSQAEATSTGEPPPGSGGLAL1053
KCNH4EPDPLG---------------PSPVPEASP>P<TPS---LLRHSFQSRSDTF-----------1016
KCNH5--------ASSPKSQM------PLQVP--P>Q<IPC---QDIFSVSRPESPESDKDEIH----987
KCNH6-----------------------P-CFSSL>P<EHL---GSVPKQLDFQRHGSDPGFAGSWG-993
KCNH7LSLELHLRQRKTYVH--------PIRHPSL>P<DSS---LSTVGIVGLHRHVSDPGLPG----1195
KCNH8ISATLSSSVCSSSETSLHLVLPSRSEEGSF>S<QGT---VSSFSLENLPGSWNQEGMASASTK1083
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1----------------------------MS>P<GPEPGEQILSVKMPEEREE-KAE-------1251
CNGB3----------------------------MA>P<SAEGGEEVLTIEVKEKAKQ-----------809
HCN1----------PP--------------AAAL>P<RES---SSVLNTD-P-DAEKP-RFASN---889
HCN2----------RR--------------DSAS>P<GAA---GG---LD-PQDSARS-RLSSN---888
HCN3----------VP--------------EPAT>P<------------------RGL-QLSAN---773
HCN4-----------P--------------LTAG>P<QRE---PG---AR-P-EPVRS-KLPSN---1202
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P1139Lc.3416C>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