Paralogue Annotation for KCNH2 residue 356

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 356
Reference Amino Acid: R - Arginine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 356

No paralogue variants have been mapped to residue 356 for KCNH2.



KCNH2-TISKIPQITLNFVDLKGDPFLASP-T-SD>R<EII-AP-KIK-E--R-THNV-TEKVTQVL-378
KCNH1----------------RLTRALTSS-R-GV>L<QQL-APS-VQKG--E-NVHK-HSRLAEVL-188
KCNH3---------------KGFNANRRRS-R-AV>L<YHL-SGH-LQK---Q-PKG--KHKLNKGV-195
KCNH4--------------TWKFRSARRRS-R-TV>L<HRL-TGH-FGR---R-GQG--GMKANNNV-197
KCNH5----------------RLTRALTNS-R-SV>L<QQL-TPM-NKT---E-VVHK-HSRLAEVL-185
KCNH6-TISQIPQFTLNFVEFNLEKHRSSS-T-TE>I<EII-APHKVV-E--R-TQNV-TEKVTQVL-227
KCNH7-TINKIPQLTLNFSEVKTEKKNSSPPS-SD>K<TII-AP-KVK-D--R-THNV-TEKVTQVL-378
KCNH8--------------GTHFDSARRRS-R-AV>L<YHI-SGH-LQR---R-EKN--KLKINNNV-192
CNGA1------------KKK-KKKEKKSKS-D-DK>N<ENKNDPE-KK------------K-KKKD-K135
CNGA2------------FLE-RFRGPELQT-V-TT>Q<EGDGKG--D---------------------116
CNGA3------------FPD-RFRGAELKE-V-SS>Q<ESNAQ-A-NVGS--QEPADRGRS-AWPLAK138
CNGA4---------------------KVKT-T-ES>-<------------------------------12
CNGB1TEKV-KEKLIDPDVTSDEE-SPKPSPA-KK>A<PEP-APD-TKPAEAE-PVEE-EHYCDMLC-631
CNGB3TALY-KKKLVEGDLSS-----PEASPQ-TA>K<PTA-VPP-VKES--D-DKPT-EHYYRLLW-189
HCN1----------------EDAEGPR-R-QYGF>M<QRQ--FT-SM----L-QPGV-NKF-SLRM-113
HCN2----------------PAGEPRG-S-QASF>M<QRQ--FG-AL----L-QPGV-NKF-SLRM-182
HCN3----------------PE------P----->K<RRH--LG-TL----L-QPTV-NKF-SLRV-64
HCN4----------------PEAEVRL-G-QAGF>M<QRQ--FG-AM----L-QPGV-NKF-SLRM-233
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R356Hc.1067G>A Inherited ArrhythmiaSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Genetic analysis, in silico prediction, and family segregation in long QT syndrome. Eur J Hum Genet. 2015 23(1):79-85. doi: 10.1038/ejhg.2014.54. 24667783
p.R356Cc.1066C>T Putative BenignSIFT:
Polyphen: