No paralogue variants have been mapped to residue 272 for KCNQ1.
| KCNQ1 | DRQGGTWRLLGSVVFIHRQELITTLYIGFL>G<LIFSSYFVYLAEKDAVN-----ESGRVEFG | 297 |
| KCNQ2 | DRRGGTWKLLGSVVYAHSKELVTAWYIGFL>C<LILASFLVYLAEKGE----------NDHFD | 262 |
| KCNQ3 | DRRGGTWKLLGSAICAHSKELITAWYIGFL>T<LILSSFLVYLVEKDVPEVDAQGEEMKEEFE | 301 |
| KCNQ4 | DRRGGTWKLLGSVVYAHSKELITAWYIGFL>V<LIFASFLVYLAEKDA----------NSDFS | 268 |
| KCNQ5 | DRRGGTWKLLGSVVYAHSKELITAWYIGFL>V<LIFSSFLVYLVEKDA----------NKEFS | 296 |
| KCNA1 | SRHSKGLQILGQTLKASMRELGLLIFFLFI>G<VILFSSAVYFAEAEE---------AESHFS | 357 |
| KCNA10 | SRHSKGLQILGQTLKASMRELGLLIFFLFI>G<VILFSSAVYFAEVDE---------PESHFS | 406 |
| KCNA2 | SRHSKGLQILGQTLKASMRELGLLIFFLFI>G<VILFSSAVYFAEADE---------RESQFP | 359 |
| KCNA3 | SRHSKGLQILGQTLKASMRELGLLIFFLFI>G<VILFSSAVYFAEADD---------PTSGFS | 429 |
| KCNA4 | SRHSKGLQILGHTLRASMRELGLLIFFLFI>G<VILFSSAVYFAEADE---------PTTHFQ | 509 |
| KCNA5 | SRHSKGLQILGKTLQASMRELGLLIFFLFI>G<VILFSSAVYFAEADN---------QGTHFS | 465 |
| KCNA6 | SRHSKGLQILGKTLQASMRELGLLIFFLFI>G<VILFSSAVYFAEADD---------DDSLFP | 407 |
| KCNA7 | SRHSKGLQILGQTLRASMRELGLLIFFLFI>G<VVLFSSAVYFAEVDR---------VDSHFT | 343 |
| KCNB1 | ARHSTGLQSLGFTLRRSYNELGLLILFLAM>G<IMIFSSLVFFAEKDE---------DDTKFK | 362 |
| KCNB2 | ARHSTGLQSLGFTLRRSYNELGLLILFLAM>G<IMIFSSLVFFAEKDE---------DATKFT | 366 |
| KCNC1 | TRHFVGLRVLGHTLRASTNEFLLLIIFLAL>G<VLIFATMIYYAERIGAQPNDPSASEHTHFK | 385 |
| KCNC2 | TRHFVGLRVLGHTLRASTNEFLLLIIFLAL>G<VLIFATMIYYAERVGAQPNDPSASEHTQFK | 422 |
| KCNC3 | TRHFVGLRVLGHTLRASTNEFLLLIIFLAL>G<VLIFATMIYYAERIGADPDDILGSNHTYFK | 488 |
| KCNC4 | TRHFVGLRVLGHTLRASTNEFLLLIIFLAL>G<VLIFATMIYYAERIGARPSDPRGNDHTDFK | 421 |
| KCND1 | SRHSQGLRILGYTLKSCASELGFLLFSLTM>A<IIIFATVMFYAEKGT---------NKTNFT | 357 |
| KCND2 | SRHSQGLRILGYTLKSCASELGFLLFSLTM>A<IIIFATVMFYAEKGS---------SASKFT | 355 |
| KCND3 | SRHSQGLRILGYTLKSCASELGFLLFSLTM>A<IIIFATVMFYAEKGS---------SASKFT | 352 |
| KCNF1 | ARHSSGLQTLTYALKRSFKELGLLLMYLAV>G<IFVFSALGYTMEQSH---------PETLFK | 355 |
| KCNG1 | ARHSLGLQTLGLTARRCTREFGLLLLFLCV>A<IALFAPLLYVIENEM-----A---DSPEFT | 409 |
| KCNG2 | ARHSLGLRSLGLTMRRCAREFGLLLLFLCV>A<MALFAPLVHLAEREL-----G---ARRDFS | 354 |
| KCNG3 | ARHFIGLQTLGLTLKRCYREMVMLLVFICV>A<MAIFSALSQLLEHGL-----DLETSNKDFT | 358 |
| KCNG4 | ARHSLGLQTLGLTVRRCTREFGLLLLFLAV>A<ITLFSPLVYVAEKES-----G---RVLEFT | 403 |
| KCNS1 | ARHSTGLRSLGATLKHSYREVGILLLYLAV>G<VSVFSGVAYTAEKEE----------DVGFN | 406 |
| KCNS2 | ARHSTGLRSLGATLKYSYKEVGLLLLYLSV>G<ISIFSVVAYTIEKEE----------NEGLA | 359 |
| KCNS3 | ARHSVGLRSLGATLRHSYHEVGLLLLFLSV>G<ISIFSVLIYSVEKDD---------HTSSLT | 355 |
| KCNV1 | GRHSTGLRSLGMTITQCYEEVGLLLLFLSV>G<ISIFSTVEYFAEQSI---------PDTTFT | 377 |
| KCNV2 | ARHSTGLRAFGFTLRQCYQQVGCLLLFIAM>G<IFTFSAAVYSVEHDV---------PSTNFT | 442 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G272D | c.815G>A | Inherited Arrhythmia | LQTS,JLNS | rs199472726 | SIFT: tolerated Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | JLNS | Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen. Hum Genet. 2000 107(5):499-503. 11140949 | ||
| 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 | |||
| 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 | JLNS | 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 | |||
| p.G272V | c.815G>T | Inherited Arrhythmia | LQTS | rs199472726 | SIFT: tolerated Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. Heart Rhythm. 2010 7(10):1411-8. 20541041 | ||
| Inherited Arrhythmia | LQTS | Atrioventricular block-induced Torsades de Pointes with clinical and molecular backgrounds similar to congenital long QT syndrome. Circ J. 2010 74(12):2562-71. 20975234 | |||
| p.G272S | c.814G>A | Putative Benign | SIFT: Polyphen: | ||