No paralogue variants have been mapped to residue 153 for KCNQ1.
| KCNQ1 | ---------------------------ALA>T<GT-LF-WMEIVLVVFFGTEYVVRLWSAGCR | 181 |
| KCNQ2 | ---------------------------KSS>E<GA-LY-ILEIVTIVVFGVEYFVRIWAAGCC | 151 |
| KCNQ3 | ---------------------------TVS>G<DW-LL-LLETFAIFIFGAEFALRIWAAGCC | 181 |
| KCNQ4 | ---------------------------ELA>N<EC-LL-ILEFVMIVVFGLEYIVRVWSAGCC | 157 |
| KCNQ5 | ---------------------------KLA>S<SC-LL-ILEFVMIVVFGLEFIIRIWSAGCC | 185 |
| KCNA1 | -TV-H-RI----D------NTTVIYNSNIF>T<DP-FF-IVETLCIIWFSFELVVR------- | 239 |
| KCNA10 | -VR-DPN-----L-----NMSKTVLSQTMF>T<DP-FF-MVESTCIVWFTFELVLR------- | 289 |
| KCNA2 | -TF-H-TY----S-----NSTIGYQQSTSF>T<DP-FF-IVETLCIIWFSFEFLVR------- | 240 |
| KCNA3 | -SF-E-AAG---N-----STSGSRAGASSF>S<DP-FF-VVETLCIIWFSFELLVR------- | 313 |
| KCNA4 | -GH-G-GLLNDTS-----APHLENSGHTIF>N<DP-FF-IVETVCIVWFSFEFVVR------- | 389 |
| KCNA5 | N--GS-GVMAPPS-----GPTVAPLLPRTL>A<DP-FF-IVETTCVIWFTFELLVR------- | 342 |
| KCNA6 | SYTFH-HGITPGEMGTGGSSSLSTLGGSFF>T<DP-FF-LVETLCIVWFTFELLVR------- | 281 |
| KCNA7 | -PF-P-APL-NGS-----SQMPGNPPRLPF>N<DP-FF-VVETLCICWFSFELLVR------- | 227 |
| KCNB1 | ----------------------------ST>D<NPQLA-HVEAVCIAWFTMEYLLR------- | 247 |
| KCNB2 | ----------------------------LN>D<NRQLA-HVEAVCIAWFTMEYLLR------- | 251 |
| KCNC1 | ----N-V-----R-----NGTQVRYYREAE>T<EA-FLTYIEGVCVVWFTFEFLMR------- | 263 |
| KCNC2 | ----P-V-----I-----NGTSVVLQYEIE>T<DP-ALTYVEGVCVVWFTFEFLVR------- | 300 |
| KCNC3 | -SP-I-P-----G-----APPENITNVEVE>T<EP-FLTYVEGVCVVWFTFEFLMR------- | 366 |
| KCNC4 | ----R-V-----G-----NITSVHFRREVE>T<EP-ILTYIEGVCVLWFTLEFLVR------- | 299 |
| KCND1 | ----------------------EQPCGERF>P<QA-FF-CMDTACVLIFTGEYLLR------- | 249 |
| KCND2 | ----------------------ELPCGERY>A<VA-FF-CLDTACVMIFTVEYLLR------- | 247 |
| KCND3 | ----------------------ELPCGERY>S<VA-FF-CLDTACVMIFTVEYLLR------- | 244 |
| KCNF1 | ----------------------------RV>E<HPTLE-NVETACIGWFTLEYLLR------- | 240 |
| KCNG1 | ------C--------------------SQM>C<HN-VF-IVESVCVGWFSLEFLLR------- | 286 |
| KCNG2 | ------C--------------------SPK>C<RS-LF-VLETVCVAWFSFEFLLR------- | 236 |
| KCNG3 | ------S-L----------DDRSRYSAGPG>R<EP-SG-IIEAICIGWFTAECIVR------- | 239 |
| KCNG4 | ------C--------------------SRK>C<YY-IF-IVETICVAWFSLEFCLR------- | 280 |
| KCNS1 | ------VA----------AVAAGRSPEGVR>D<DPVLR-RLEYFCIAWFSFEVSSR------- | 290 |
| KCNS2 | ----------------------------PG>E<DPRFE-IVEHFGIAWFTFELVAR------- | 245 |
| KCNS3 | -----------------------------V>D<DPVLE-GVEIACIAWFTGELAVR------- | 240 |
| KCNV1 | ----------------------------WL>D<LQLLE-ILEYVCISWFTGEFVLR------- | 260 |
| KCNV2 | ------G--------------------GPD>L<RPILE-HVEMLCMGFFTLEYLLR------- | 320 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.T153M | c.458C>T | Inherited Arrhythmia | LQTS | rs143709408 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | 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 | Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. 24055113 | |||
| Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||
| 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 | ||||
| Inherited Arrhythmia | LQTS | Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594 | |||