No paralogue variants have been mapped to residue 171 for KCNQ1.
| KCNQ1 | -------ALATGT-LF-WMEIVLVVFFGTE>Y<VVRLWSAGCRSKYVGLWGRLRFARKPISII | 201 |
| KCNQ2 | -------KSSEGA-LY-ILEIVTIVVFGVE>Y<FVRIWAAGCCCRYRGWRGRLKFARKPFCVI | 171 |
| KCNQ3 | -------TVSGDW-LL-LLETFAIFIFGAE>F<ALRIWAAGCCCRYKGWRGRLKFARKPLCML | 201 |
| KCNQ4 | -------ELANEC-LL-ILEFVMIVVFGLE>Y<IVRVWSAGCCCRYRGWQGRFRFARKPFCVI | 177 |
| KCNQ5 | -------KLASSC-LL-ILEFVMIVVFGLE>F<IIRIWSAGCCCRYRGWQGRLRFARKPFCVI | 205 |
| KCNA1 | TTVIYNSNIFTDP-FF-IVETLCIIWFSFE>L<VVR---------FFACPSKTDFFKNIMNFI | 257 |
| KCNA10 | SKTVLSQTMFTDP-FF-MVESTCIVWFTFE>L<VLR---------FVVCPSKTDFFRNIMNII | 307 |
| KCNA2 | TIGYQQSTSFTDP-FF-IVETLCIIWFSFE>F<LVR---------FFACPSKAGFFTNIMNII | 258 |
| KCNA3 | SGSRAGASSFSDP-FF-VVETLCIIWFSFE>L<LVR---------FFACPSKATFSRNIMNLI | 331 |
| KCNA4 | HLENSGHTIFNDP-FF-IVETVCIVWFSFE>F<VVR---------CFACPSQALFFKNIMNII | 407 |
| KCNA5 | TVAPLLPRTLADP-FF-IVETTCVIWFTFE>L<LVR---------FFACPSKAGFSRNIMNII | 360 |
| KCNA6 | SLSTLGGSFFTDP-FF-LVETLCIVWFTFE>L<LVR---------FSACPSKPAFFRNIMNII | 299 |
| KCNA7 | MPGNPPRLPFNDP-FF-VVETLCICWFSFE>L<LVR---------LLVCPSKAIFFKNVMNLI | 245 |
| KCNB1 | --------STDNPQLA-HVEAVCIAWFTME>Y<LLR---------FLSSPKKWKFFKGPLNAI | 265 |
| KCNB2 | --------LNDNRQLA-HVEAVCIAWFTME>Y<LLR---------FLSSPNKWKFFKGPLNVI | 269 |
| KCNC1 | TQVRYYREAETEA-FLTYIEGVCVVWFTFE>F<LMR---------VIFCPNKVEFIKNSLNII | 281 |
| KCNC2 | TSVVLQYEIETDP-ALTYVEGVCVVWFTFE>F<LVR---------IVFSPNKLEFIKNLLNII | 318 |
| KCNC3 | PENITNVEVETEP-FLTYVEGVCVVWFTFE>F<LMR---------ITFCPDKVEFLKSSLNII | 384 |
| KCNC4 | TSVHFRREVETEP-ILTYIEGVCVLWFTLE>F<LVR---------IVCCPDTLDFVKNLLNII | 317 |
| KCND1 | --EQPCGERFPQA-FF-CMDTACVLIFTGE>Y<LLR---------LFAAPSRCRFLRSVMSLI | 267 |
| KCND2 | --ELPCGERYAVA-FF-CLDTACVMIFTVE>Y<LLR---------LAAAPSRYRFVRSVMSII | 265 |
| KCND3 | --ELPCGERYSVA-FF-CLDTACVMIFTVE>Y<LLR---------LFAAPSRYRFIRSVMSII | 262 |
| KCNF1 | --------RVEHPTLE-NVETACIGWFTLE>Y<LLR---------LFSSPNKLHFALSFMNIV | 258 |
| KCNG1 | -------SQMCHN-VF-IVESVCVGWFSLE>F<LLR---------LIQAPSKFAFLRSPLTLI | 304 |
| KCNG2 | -------SPKCRS-LF-VLETVCVAWFSFE>F<LLR---------SLQAESKCAFLRAPLNII | 254 |
| KCNG3 | DRSRYSAGPGREP-SG-IIEAICIGWFTAE>C<IVR---------FIVSKNKCEFVKRPLNII | 257 |
| KCNG4 | -------SRKCYY-IF-IVETICVAWFSLE>F<CLR---------FVQAQDKCQFFQGPLNII | 298 |
| KCNS1 | AAGRSPEGVRDDPVLR-RLEYFCIAWFSFE>V<SSR---------LLLAPSTRNFFCHPLNLI | 308 |
| KCNS2 | --------PGEDPRFE-IVEHFGIAWFTFE>L<VAR---------FAVAPDFLKFFKNALNLI | 263 |
| KCNS3 | ---------VDDPVLE-GVEIACIAWFTGE>L<AVR---------LAAAPCQKKFWKNPLNII | 258 |
| KCNV1 | --------WLDLQLLE-ILEYVCISWFTGE>F<VLR---------FLCVRDRCRFLRKVPNII | 278 |
| KCNV2 | -------GPDLRPILE-HVEMLCMGFFTLE>Y<LLR---------LASTPDLRRFARSALNLV | 338 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Y171N | c.511T>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661 | ||