No paralogue variants have been mapped to residue 225 for KCNQ1.
| KCNQ1 | VVLCVG----------------SKGQVFAT>S<AIRGIRFLQILRMLHVDRQGGTWRLLGSVV | 255 |
| KCNQ2 | AVLAAG----------------SQGNVFAT>S<ALRSLRFLQILRMIRMDRRGGTWKLLGSVV | 225 |
| KCNQ3 | PVVAVG----------------NQGNVLA->T<SLRSLRFLQILRMLRMDRRGGTWKLLGSAI | 254 |
| KCNQ4 | AVIAAG----------------TQGNIFAT>S<ALRSMRFLQILRMVRMDRRGGTWKLLGSVV | 231 |
| KCNQ5 | AVVSAK----------------TQGNIFAT>S<ALRSLRFLQILRMVRMDRRGGTWKLLGSVV | 259 |
| KCNA1 | ITLGTEIAEQEG-------N-QKGEQATSL>A<ILRVIRLVRVFRIFKLSRHSKGLQILGQTL | 319 |
| KCNA10 | ATLITELVQETEP---------SAQQNMSL>A<ILRIIRLVRVFRIFKLSRHSKGLQILGQTL | 368 |
| KCNA2 | ITLGTELAEKPE-------DAQQGQQAMSL>A<ILRVIRLVRVFRIFKLSRHSKGLQILGQTL | 321 |
| KCNA3 | ITLGTELAERQ----------GNGQQAMSL>A<ILRVIRLVRVFRIFKLSRHSKGLQILGQTL | 391 |
| KCNA4 | ITLGTDLAQQQGG------GNGQQQQAMSF>A<ILRIIRLVRVFRIFKLSRHSKGLQILGHTL | 471 |
| KCNA5 | ITLGTELAEQQ---PGGGGGGQNGQQAMSL>A<ILRVIRLVRVFRIFKLSRHSKGLQILGKTL | 427 |
| KCNA6 | ITLGTELVQQQEQQPASGGGGQNGQQAMSL>A<ILRVIRLVRVFRIFKLSRHSKGLQILGKTL | 369 |
| KCNA7 | VALGTELARQR----------GVGQQAMSL>A<ILRVIRLVRVFRIFKLSRHSKGLQILGQTL | 305 |
| KCNB1 | VTIFLTES---N--------KSVLQFQNVR>R<VVQIFRIMRILRILKLARHSTGLQSLGFTL | 324 |
| KCNB2 | VTIFLTES---N--------KSVLQFQNVR>R<VVQIFRIMRILRILKLARHSTGLQSLGFTL | 328 |
| KCNC1 | LEVGLSG-------------LSSKAAKDVL>G<FLRVVRFVRILRIFKLTRHFVGLRVLGHTL | 338 |
| KCNC2 | LEVGLSG-------------LSSKAAKDVL>G<FLRVVRFVRILRIFKLTRHFVGLRVLGHTL | 375 |
| KCNC3 | LEVGLSG-------------LSSKAAKDVL>G<FLRVVRFVRILRIFKLTRHFVGLRVLGHTL | 441 |
| KCNC4 | LEVGLSG-------------LSSKAARDVL>G<FLRVVRFVRILRIFKLTRHFVGLRVLGHTL | 374 |
| KCND1 | IGLLVP------------------KNDDVS>G<AFVTLRVFRVFRIFKFSRHSQGLRILGYTL | 319 |
| KCND2 | IGLVMT------------------DNEDVS>G<AFVTLRVFRVFRIFKFSRHSQGLRILGYTL | 317 |
| KCND3 | IGLVMT------------------NNEDVS>G<AFVTLRVFRVFRIFKFSRHSQGLRILGYTL | 314 |
| KCNF1 | VSLTLTHL-----------GARMMELTNVQ>Q<AVQALRIMRIARIFKLARHSSGLQTLTYAL | 317 |
| KCNG1 | ITLLVDGAAAGRR----KPGAGNSYLDKVG>L<VLRVLRALRILYVMRLARHSLGLQTLGLTA | 370 |
| KCNG2 | VSLLLGL-----A----AGPGGTKLLERAG>L<VLRLLRALRVLYVMRLARHSLGLRSLGLTM | 315 |
| KCNG3 | ISVLMTV-----------FTGENSQLQRAG>V<TLRVLRMMRIFWVIKLARHFIGLQTLGLTL | 316 |
| KCNG4 | VSLAVSEEPPEDG----ERPSGSSYLEKVG>L<VLRVLRALRILYVMRLARHSLGLQTLGLTV | 364 |
| KCNS1 | LTLLAGVALG-D--------QGGKEFGHLG>K<VVQVFRLMRIFRVLKLARHSTGLRSLGATL | 369 |
| KCNS2 | ITLVVNLV---V--------ESTPTLANLG>R<VAQVLRLMRIFRILKLARHSTGLRSLGATL | 322 |
| KCNS3 | ATLAVDTK---E--------EESEDIENMG>K<VVQILRLMRIFRILKLARHSVGLRSLGATL | 317 |
| KCNV1 | ITLLVESLSG-S--------QTTQELENVG>R<IVQVLRLLRALRMLKLGRHSTGLRSLGMTI | 339 |
| KCNV2 | LQLLLECFTGEGH----QRGQTVGSVGKVG>Q<VLRVMRLMRIFRILKLARHSTGLRAFGFTL | 404 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S225L | c.674C>T | Inherited Arrhythmia | LQTS | rs199473456 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | Low penetrance in the long-QT syndrome: clinical impact. Circulation. 1999 99(4):529-33. 9927399 | ||
| Inherited Arrhythmia | LQTS | Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849 | |||
| 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 frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. Circulation. 2004 110(15):2119-24. 15466642 | |||
| Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | |||
| Inherited Arrhythmia | LQTS | Long QT syndrome-associated mutations in the voltage sensor of I(Ks) channels. Cell Physiol Biochem. 2009 24(1-2):11-6. 19590188 | |||
| 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 | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| Inherited Arrhythmia | LQTS | Structural models for the KCNQ1 voltage-gated potassium channel. Biochemistry. 2007 46(49):14141-52. 17999538 | |||
| Inherited Arrhythmia | LQTS | Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. Circulation. 2007 115(19):2481-9. 17470695 | |||
| Inherited Arrhythmia | LQTS | Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to β-blocker therapy in type 1 long-QT syndrome. Circulation. 2012 125(16):1988-96. 22456477 | |||
| Inherited Arrhythmia | LQTS | Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429 | |||
| Inherited Arrhythmia | LQTS | Mechanisms of I(Ks) suppression in LQT1 mutants. Am J Physiol Heart Circ Physiol. 2000 279(6):H3003-11. 11087258 | |||
| Inherited Arrhythmia | LQTS | RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 347(6218):1254806. doi: 10.1126/science.1254806. 25525159 | |||