Paralogue Annotation for KCNQ1 residue 150

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 150
Reference Amino Acid: A - Alanine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 150

No paralogue variants have been mapped to residue 150 for KCNQ1.



KCNQ1------------------------------>A<LATGT-LF-WMEIVLVVFFGTEYVVRLWSA178
KCNQ2------------------------------>K<SSEGA-LY-ILEIVTIVVFGVEYFVRIWAA148
KCNQ3------------------------------>T<VSGDW-LL-LLETFAIFIFGAEFALRIWAA178
KCNQ4------------------------------>E<LANEC-LL-ILEFVMIVVFGLEYIVRVWSA154
KCNQ5------------------------------>K<LASSC-LL-ILEFVMIVVFGLEFIIRIWSA182
KCNA1----TV-H-RI----D------NTTVIYNS>N<IFTDP-FF-IVETLCIIWFSFELVVR----239
KCNA10----VR-DPN-----L-----NMSKTVLSQ>T<MFTDP-FF-MVESTCIVWFTFELVLR----289
KCNA2----TF-H-TY----S-----NSTIGYQQS>T<SFTDP-FF-IVETLCIIWFSFEFLVR----240
KCNA3----SF-E-AAG---N-----STSGSRAGA>S<SFSDP-FF-VVETLCIIWFSFELLVR----313
KCNA4----GH-G-GLLNDTS-----APHLENSGH>T<IFNDP-FF-IVETVCIVWFSFEFVVR----389
KCNA5PGAN--GS-GVMAPPS-----GPTVAPLLP>R<TLADP-FF-IVETTCVIWFTFELLVR----342
KCNA6EDDSYTFH-HGITPGEMGTGGSSSLSTLGG>S<FFTDP-FF-LVETLCIVWFTFELLVR----281
KCNA7----PF-P-APL-NGS-----SQMPGNPPR>L<PFNDP-FF-VVETLCICWFSFELLVR----227
KCNB1------------------------------>-<STDNPQLA-HVEAVCIAWFTMEYLLR----247
KCNB2------------------------------>-<LNDNRQLA-HVEAVCIAWFTMEYLLR----251
KCNC1-------N-V-----R-----NGTQVRYYR>E<AETEA-FLTYIEGVCVVWFTFEFLMR----263
KCNC2-------P-V-----I-----NGTSVVLQY>E<IETDP-ALTYVEGVCVVWFTFEFLVR----300
KCNC3----SP-I-P-----G-----APPENITNV>E<VETEP-FLTYVEGVCVVWFTFEFLMR----366
KCNC4-------R-V-----G-----NITSVHFRR>E<VETEP-ILTYIEGVCVLWFTLEFLVR----299
KCND1-------------------------EQPCG>E<RFPQA-FF-CMDTACVLIFTGEYLLR----249
KCND2-------------------------ELPCG>E<RYAVA-FF-CLDTACVMIFTVEYLLR----247
KCND3-------------------------ELPCG>E<RYSVA-FF-CLDTACVMIFTVEYLLR----244
KCNF1------------------------------>-<RVEHPTLE-NVETACIGWFTLEYLLR----240
KCNG1---------C-------------------->S<QMCHN-VF-IVESVCVGWFSLEFLLR----286
KCNG2---------C-------------------->S<PKCRS-LF-VLETVCVAWFSFEFLLR----236
KCNG3---------S-L----------DDRSRYSA>G<PGREP-SG-IIEAICIGWFTAECIVR----239
KCNG4---------C-------------------->S<RKCYY-IF-IVETICVAWFSLEFCLR----280
KCNS1---------VA----------AVAAGRSPE>G<VRDDPVLR-RLEYFCIAWFSFEVSSR----290
KCNS2------------------------------>-<PGEDPRFE-IVEHFGIAWFTFELVAR----245
KCNS3------------------------------>-<-VDDPVLE-GVEIACIAWFTGELAVR----240
KCNV1------------------------------>-<WLDLQLLE-ILEYVCISWFTGEFVLR----260
KCNV2---------G-------------------->G<PDLRPILE-HVEMLCMGFFTLEYLLR----320
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A150Gc.449C>G Inherited ArrhythmiaLQTSSIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaLQTS The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833