No paralogue variants have been mapped to residue 172 for KCNQ1.
| KCNQ1 | ------ALATGT-LF-WMEIVLVVFFGTEY>V<VRLWSAGCRSKYVGLWGRLRFARKPISIID | 202 |
| KCNQ2 | ------KSSEGA-LY-ILEIVTIVVFGVEY>F<VRIWAAGCCCRYRGWRGRLKFARKPFCVID | 172 |
| KCNQ3 | ------TVSGDW-LL-LLETFAIFIFGAEF>A<LRIWAAGCCCRYKGWRGRLKFARKPLCMLD | 202 |
| KCNQ4 | ------ELANEC-LL-ILEFVMIVVFGLEY>I<VRVWSAGCCCRYRGWQGRFRFARKPFCVID | 178 |
| KCNQ5 | ------KLASSC-LL-ILEFVMIVVFGLEF>I<IRIWSAGCCCRYRGWQGRLRFARKPFCVID | 206 |
| KCNA1 | TVIYNSNIFTDP-FF-IVETLCIIWFSFEL>V<VR---------FFACPSKTDFFKNIMNFID | 258 |
| KCNA10 | KTVLSQTMFTDP-FF-MVESTCIVWFTFEL>V<LR---------FVVCPSKTDFFRNIMNIID | 308 |
| KCNA2 | IGYQQSTSFTDP-FF-IVETLCIIWFSFEF>L<VR---------FFACPSKAGFFTNIMNIID | 259 |
| KCNA3 | GSRAGASSFSDP-FF-VVETLCIIWFSFEL>L<VR---------FFACPSKATFSRNIMNLID | 332 |
| KCNA4 | LENSGHTIFNDP-FF-IVETVCIVWFSFEF>V<VR---------CFACPSQALFFKNIMNIID | 408 |
| KCNA5 | VAPLLPRTLADP-FF-IVETTCVIWFTFEL>L<VR---------FFACPSKAGFSRNIMNIID | 361 |
| KCNA6 | LSTLGGSFFTDP-FF-LVETLCIVWFTFEL>L<VR---------FSACPSKPAFFRNIMNIID | 300 |
| KCNA7 | PGNPPRLPFNDP-FF-VVETLCICWFSFEL>L<VR---------LLVCPSKAIFFKNVMNLID | 246 |
| KCNB1 | -------STDNPQLA-HVEAVCIAWFTMEY>L<LR---------FLSSPKKWKFFKGPLNAID | 266 |
| KCNB2 | -------LNDNRQLA-HVEAVCIAWFTMEY>L<LR---------FLSSPNKWKFFKGPLNVID | 270 |
| KCNC1 | QVRYYREAETEA-FLTYIEGVCVVWFTFEF>L<MR---------VIFCPNKVEFIKNSLNIID | 282 |
| KCNC2 | SVVLQYEIETDP-ALTYVEGVCVVWFTFEF>L<VR---------IVFSPNKLEFIKNLLNIID | 319 |
| KCNC3 | ENITNVEVETEP-FLTYVEGVCVVWFTFEF>L<MR---------ITFCPDKVEFLKSSLNIID | 385 |
| KCNC4 | SVHFRREVETEP-ILTYIEGVCVLWFTLEF>L<VR---------IVCCPDTLDFVKNLLNIID | 318 |
| KCND1 | -EQPCGERFPQA-FF-CMDTACVLIFTGEY>L<LR---------LFAAPSRCRFLRSVMSLID | 268 |
| KCND2 | -ELPCGERYAVA-FF-CLDTACVMIFTVEY>L<LR---------LAAAPSRYRFVRSVMSIID | 266 |
| KCND3 | -ELPCGERYSVA-FF-CLDTACVMIFTVEY>L<LR---------LFAAPSRYRFIRSVMSIID | 263 |
| KCNF1 | -------RVEHPTLE-NVETACIGWFTLEY>L<LR---------LFSSPNKLHFALSFMNIVD | 259 |
| KCNG1 | ------SQMCHN-VF-IVESVCVGWFSLEF>L<LR---------LIQAPSKFAFLRSPLTLID | 305 |
| KCNG2 | ------SPKCRS-LF-VLETVCVAWFSFEF>L<LR---------SLQAESKCAFLRAPLNIID | 255 |
| KCNG3 | RSRYSAGPGREP-SG-IIEAICIGWFTAEC>I<VR---------FIVSKNKCEFVKRPLNIID | 258 |
| KCNG4 | ------SRKCYY-IF-IVETICVAWFSLEF>C<LR---------FVQAQDKCQFFQGPLNIID | 299 |
| KCNS1 | AGRSPEGVRDDPVLR-RLEYFCIAWFSFEV>S<SR---------LLLAPSTRNFFCHPLNLID | 309 |
| KCNS2 | -------PGEDPRFE-IVEHFGIAWFTFEL>V<AR---------FAVAPDFLKFFKNALNLID | 264 |
| KCNS3 | --------VDDPVLE-GVEIACIAWFTGEL>A<VR---------LAAAPCQKKFWKNPLNIID | 259 |
| KCNV1 | -------WLDLQLLE-ILEYVCISWFTGEF>V<LR---------FLCVRDRCRFLRKVPNIID | 279 |
| KCNV2 | ------GPDLRPILE-HVEMLCMGFFTLEY>L<LR---------LASTPDLRRFARSALNLVD | 339 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V172M | c.514G>A | Inherited Arrhythmia | LQTS | rs199472694 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. J Cardiovasc Electrophysiol. 2003 14(11):1149-53. 14678125 | ||
| Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | |||
| Inherited Arrhythmia | LQTS | High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders. Hum Genet. 2015 134(9):967-80. doi: 10.1007/s00439-015-1575-0. 26077850 | |||
| p.V172E | c.515T>A | Putative Benign | SIFT: Polyphen: | ||