No paralogue variants have been mapped to residue 192 for KCNQ1.
| KCNQ1 | VLVVFFGTEYVVRLWSAGCRSKYVGLWGRL>R<FARKPISIIDLIVVVASMVVLCVG------ | 216 |
| KCNQ2 | VTIVVFGVEYFVRIWAAGCCCRYRGWRGRL>K<FARKPFCVIDIMVLIASIAVLAAG------ | 186 |
| KCNQ3 | FAIFIFGAEFALRIWAAGCCCRYKGWRGRL>K<FARKPLCMLDIFVLIASVPVVAVG------ | 216 |
| KCNQ4 | VMIVVFGLEYIVRVWSAGCCCRYRGWQGRF>R<FARKPFCVIDFIVFVASVAVIAAG------ | 192 |
| KCNQ5 | VMIVVFGLEFIIRIWSAGCCCRYRGWQGRL>R<FARKPFCVIDTIVLIASIAVVSAK------ | 220 |
| KCNA1 | LCIIWFSFELVVR---------FFACPSKT>D<FFKNIMNFIDIVAIIPYFITLGTEIAEQEG | 278 |
| KCNA10 | TCIVWFTFELVLR---------FVVCPSKT>D<FFRNIMNIIDIISIIPYFATLITELVQETE | 328 |
| KCNA2 | LCIIWFSFEFLVR---------FFACPSKA>G<FFTNIMNIIDIVAIIPYFITLGTELAEKPE | 279 |
| KCNA3 | LCIIWFSFELLVR---------FFACPSKA>T<FSRNIMNLIDIVAIIPYFITLGTELAERQ- | 351 |
| KCNA4 | VCIVWFSFEFVVR---------CFACPSQA>L<FFKNIMNIIDIVSILPYFITLGTDLAQQQG | 428 |
| KCNA5 | TCVIWFTFELLVR---------FFACPSKA>G<FSRNIMNIIDVVAIFPYFITLGTELAEQQ- | 380 |
| KCNA6 | LCIVWFTFELLVR---------FSACPSKP>A<FFRNIMNIIDLVAIFPYFITLGTELVQQQE | 320 |
| KCNA7 | LCICWFSFELLVR---------LLVCPSKA>I<FFKNVMNLIDFVAILPYFVALGTELARQR- | 265 |
| KCNB1 | VCIAWFTMEYLLR---------FLSSPKKW>K<FFKGPLNAIDLLAILPYYVTIFLTES---N | 283 |
| KCNB2 | VCIAWFTMEYLLR---------FLSSPNKW>K<FFKGPLNVIDLLAILPYYVTIFLTES---N | 287 |
| KCNC1 | VCVVWFTFEFLMR---------VIFCPNKV>E<FIKNSLNIIDFVAILPFYLEVGLSG----- | 297 |
| KCNC2 | VCVVWFTFEFLVR---------IVFSPNKL>E<FIKNLLNIIDFVAILPFYLEVGLSG----- | 334 |
| KCNC3 | VCVVWFTFEFLMR---------ITFCPDKV>E<FLKSSLNIIDCVAILPFYLEVGLSG----- | 400 |
| KCNC4 | VCVLWFTLEFLVR---------IVCCPDTL>D<FVKNLLNIIDFVAILPFYLEVGLSG----- | 333 |
| KCND1 | ACVLIFTGEYLLR---------LFAAPSRC>R<FLRSVMSLIDVVAILPYYIGLLVP------ | 282 |
| KCND2 | ACVMIFTVEYLLR---------LAAAPSRY>R<FVRSVMSIIDVVAILPYYIGLVMT------ | 280 |
| KCND3 | ACVMIFTVEYLLR---------LFAAPSRY>R<FIRSVMSIIDVVAIMPYYIGLVMT------ | 277 |
| KCNF1 | ACIGWFTLEYLLR---------LFSSPNKL>H<FALSFMNIVDVLAILPFYVSLTLTHL---- | 275 |
| KCNG1 | VCVGWFSLEFLLR---------LIQAPSKF>A<FLRSPLTLIDLVAILPYYITLLVDGAAAGR | 325 |
| KCNG2 | VCVAWFSFEFLLR---------SLQAESKC>A<FLRAPLNIIDILALLPFYVSLLLGL----- | 270 |
| KCNG3 | ICIGWFTAECIVR---------FIVSKNKC>E<FVKRPLNIIDLLAITPYYISVLMTV----- | 273 |
| KCNG4 | ICVAWFSLEFCLR---------FVQAQDKC>Q<FFQGPLNIIDILAISPYYVSLAVSEEPPED | 319 |
| KCNS1 | FCIAWFSFEVSSR---------LLLAPSTR>N<FFCHPLNLIDIVSVLPFYLTLLAGVALG-D | 328 |
| KCNS2 | FGIAWFTFELVAR---------FAVAPDFL>K<FFKNALNLIDLMSIVPFYITLVVNLV---V | 281 |
| KCNS3 | ACIAWFTGELAVR---------LAAAPCQK>K<FWKNPLNIIDFVSIIPFYATLAVDTK---E | 276 |
| KCNV1 | VCISWFTGEFVLR---------FLCVRDRC>R<FLRKVPNIIDLLAILPFYITLLVESLSG-S | 298 |
| KCNV2 | LCMGFFTLEYLLR---------LASTPDLR>R<FARSALNLVDLVAILPLYLQLLLECFTGEG | 359 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R192H | c.575G>A | Inherited Arrhythmia | LQTS | rs199472698 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. Clin Genet. 2006 70(3):214-27. 16922724 | ||
| p.R192P | c.575G>C | Inherited Arrhythmia | LQTS | rs199472698 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944 | ||
| p.R192C | c.574C>T | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome. J Cardiovasc Dis Res. 2012 3(2):67-75. 22629021 | ||
| Inherited Arrhythmia | LQTS | Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430 | |||