Paralogue Annotation for KCNQ1 residue 181

Residue details

Gene: KCNQ1
Reference Sequences: LRG: LRG_287, Ensembl variant: ENST00000155840 / ENSP00000155840
Amino Acid Position: 181
Reference Amino Acid: R - Arginine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNQ1 residue 181

No paralogue variants have been mapped to residue 181 for KCNQ1.



KCNQ1TGT-LF-WMEIVLVVFFGTEYVVRLWSAGC>R<SKYVGLWGRLRFARKPISIIDLIVVVASMV211
KCNQ2EGA-LY-ILEIVTIVVFGVEYFVRIWAAGC>C<CRYRGWRGRLKFARKPFCVIDIMVLIASIA181
KCNQ3GDW-LL-LLETFAIFIFGAEFALRIWAAGC>C<CRYKGWRGRLKFARKPLCMLDIFVLIASVP211
KCNQ4NEC-LL-ILEFVMIVVFGLEYIVRVWSAGC>C<CRYRGWQGRFRFARKPFCVIDFIVFVASVA187
KCNQ5SSC-LL-ILEFVMIVVFGLEFIIRIWSAGC>C<CRYRGWQGRLRFARKPFCVIDTIVLIASIA215
KCNA1TDP-FF-IVETLCIIWFSFELVVR------>-<--FFACPSKTDFFKNIMNFIDIVAIIPYFI267
KCNA10TDP-FF-MVESTCIVWFTFELVLR------>-<--FVVCPSKTDFFRNIMNIIDIISIIPYFA317
KCNA2TDP-FF-IVETLCIIWFSFEFLVR------>-<--FFACPSKAGFFTNIMNIIDIVAIIPYFI268
KCNA3SDP-FF-VVETLCIIWFSFELLVR------>-<--FFACPSKATFSRNIMNLIDIVAIIPYFI341
KCNA4NDP-FF-IVETVCIVWFSFEFVVR------>-<--CFACPSQALFFKNIMNIIDIVSILPYFI417
KCNA5ADP-FF-IVETTCVIWFTFELLVR------>-<--FFACPSKAGFSRNIMNIIDVVAIFPYFI370
KCNA6TDP-FF-LVETLCIVWFTFELLVR------>-<--FSACPSKPAFFRNIMNIIDLVAIFPYFI309
KCNA7NDP-FF-VVETLCICWFSFELLVR------>-<--LLVCPSKAIFFKNVMNLIDFVAILPYFV255
KCNB1DNPQLA-HVEAVCIAWFTMEYLLR------>-<--FLSSPKKWKFFKGPLNAIDLLAILPYYV275
KCNB2DNRQLA-HVEAVCIAWFTMEYLLR------>-<--FLSSPNKWKFFKGPLNVIDLLAILPYYV279
KCNC1TEA-FLTYIEGVCVVWFTFEFLMR------>-<--VIFCPNKVEFIKNSLNIIDFVAILPFYL291
KCNC2TDP-ALTYVEGVCVVWFTFEFLVR------>-<--IVFSPNKLEFIKNLLNIIDFVAILPFYL328
KCNC3TEP-FLTYVEGVCVVWFTFEFLMR------>-<--ITFCPDKVEFLKSSLNIIDCVAILPFYL394
KCNC4TEP-ILTYIEGVCVLWFTLEFLVR------>-<--IVCCPDTLDFVKNLLNIIDFVAILPFYL327
KCND1PQA-FF-CMDTACVLIFTGEYLLR------>-<--LFAAPSRCRFLRSVMSLIDVVAILPYYI277
KCND2AVA-FF-CLDTACVMIFTVEYLLR------>-<--LAAAPSRYRFVRSVMSIIDVVAILPYYI275
KCND3SVA-FF-CLDTACVMIFTVEYLLR------>-<--LFAAPSRYRFIRSVMSIIDVVAIMPYYI272
KCNF1EHPTLE-NVETACIGWFTLEYLLR------>-<--LFSSPNKLHFALSFMNIVDVLAILPFYV268
KCNG1CHN-VF-IVESVCVGWFSLEFLLR------>-<--LIQAPSKFAFLRSPLTLIDLVAILPYYI314
KCNG2CRS-LF-VLETVCVAWFSFEFLLR------>-<--SLQAESKCAFLRAPLNIIDILALLPFYV264
KCNG3REP-SG-IIEAICIGWFTAECIVR------>-<--FIVSKNKCEFVKRPLNIIDLLAITPYYI267
KCNG4CYY-IF-IVETICVAWFSLEFCLR------>-<--FVQAQDKCQFFQGPLNIIDILAISPYYV308
KCNS1DDPVLR-RLEYFCIAWFSFEVSSR------>-<--LLLAPSTRNFFCHPLNLIDIVSVLPFYL318
KCNS2EDPRFE-IVEHFGIAWFTFELVAR------>-<--FAVAPDFLKFFKNALNLIDLMSIVPFYI273
KCNS3DDPVLE-GVEIACIAWFTGELAVR------>-<--LAAAPCQKKFWKNPLNIIDFVSIIPFYA268
KCNV1DLQLLE-ILEYVCISWFTGEFVLR------>-<--FLCVRDRCRFLRKVPNIIDLLAILPFYI288
KCNV2LRPILE-HVEMLCMGFFTLEYLLR------>-<--LASTPDLRRFARSALNLVDLVAILPLYL348
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNQ1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R181Cc.541C>T Putative Benignrs199473395SIFT: tolerated
Polyphen: probably damaging
ReportsPutative Benign Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
Unknown 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