No paralogue variants have been mapped to residue 137 for KCNQ1.
| KCNQ1 | GRVYNFLERPT-GWKCFVYHFAVFLIVLVC>L<IFSVLSTIEQYA------------------ | 149 |
| KCNQ2 | NFLYNVLERPR-G-WAFIYHAYVFLLVFSC>L<VLSVFSTIKEYE------------------ | 119 |
| KCNQ3 | TLIYDALERPR-G-WALLYHALVFLIVLGC>L<ILAVLTTFKEYE------------------ | 149 |
| KCNQ4 | NWVYNVLERPR-G-WAFVYHVFIFLLVFSC>L<VLSVLSTIQEHQ------------------ | 125 |
| KCNQ5 | NYLYNVLERPR-G-WAFIYHAFVFLLVFGC>L<ILSVFSTIPEHT------------------ | 153 |
| KCNA1 | RQVWLLFEYPESSGPARVIAIVSVMVILIS>I<VIFCLETLPELKDDK-DF--------TG-- | 200 |
| KCNA10 | RQFWLLFEYPESSSAARAVAVVSVLVVVIS>I<TIFCLETLPEFREDR-EL--------KV-- | 249 |
| KCNA2 | RQVWLLFEYPESSGPARIIAIVSVMVILIS>I<VSFCLETLPIFRDEN-ED--------MHGS | 198 |
| KCNA3 | RQVWLLFEYPESSGPARGIAIVSVLVILIS>I<VIFCLETLPEFRDEK-DY--------PA-S | 268 |
| KCNA4 | KQIWLLFEYPESSSPARGIAIVSVLVILIS>I<VIFCLETLPEFRDDR-DL--------VM-A | 341 |
| KCNA5 | RQVWLIFEYPESSGSARAIAIVSVLVILIS>I<ITFCLETLPEFRDER-ELLRHPPAP----- | 288 |
| KCNA6 | RQVWLLFEYPESSGPARGIAIVSVLVILIS>I<VIFCLETLPQFRVDG-RGGNNGGVSRVS-P | 216 |
| KCNA7 | RQLWLLFEFPESSQAARVLAVVSVLVILVS>I<VVFCLETLPDFRDDR-DGTGL-----AA-A | 180 |
| KCNB1 | KKLWDLLEKPNSSVAAKILAIISIMFIVLS>T<IALSLNTLPELQSLD-EF--------GQ-- | 222 |
| KCNB2 | KKLWDLLEKPNSSVAAKILAIVSILFIVLS>T<IALSLNTLPELQETD-EF--------GQ-- | 226 |
| KCNC1 | PRIWALFEDPYSSRYARYVAFASLFFILVS>I<TTFCLETHERFNPIV-NK--------TE-I | 224 |
| KCNC2 | PRMWALFEDPYSSRAARFIAFASLFFILVS>I<TTFCLETHEAFNI---VK--------NK-T | 261 |
| KCNC3 | PRVWALFEDPYSSRAARYVAFASLFFILIS>I<TTFCLETHEGFIHIS-NK--------TV-T | 324 |
| KCNC4 | PRMWALFEDPYSSRAARVVAFASLFFILVS>I<TTFCLETHEAFNI---DR-NV-----TE-I | 260 |
| KCND1 | QRLWRAFENPHTSTAALVFYYVTGFFIAVS>V<IANVVETIPCRGSAR-RS--------SR-- | 219 |
| KCND2 | QRVWRAFENPHTSTMALVFYYVTGFFIAVS>V<IANVVETVPCGS-SP-GH--------IK-- | 217 |
| KCND3 | QTMWRAFENPHTSTLALVFYYVTGFFIAVS>V<ITNVVETVPCGT-VP-G---------SK-- | 214 |
| KCNF1 | KCVWKFLEKPESSCPARVVAVLSFLLILVS>S<VVMCMGTIPELQVLD-AE--------GN-- | 215 |
| KCNG1 | RRLRDMVERPHSGLPGKVFACLSVLFVTVT>A<VNLSVSTLPSLREEEE-Q--------GH-- | 260 |
| KCNG2 | RRLRDVVDNPHSGLAGKLFACVSVSFVAVT>A<VGLCLSTMPDIRAEEE-R--------GE-- | 210 |
| KCNG3 | ERMRRTFEEPTSSLAAQILASVSVVFVIVS>M<VVLCASTLPDWRN-AAAD--------NR-- | 204 |
| KCNG4 | NRLREMVENPQSGLPGKVFACLSILFVATT>A<VSLCVSTMPDLRAEED-Q--------GE-- | 254 |
| KCNS1 | RRLWLTMENPGYSLPSKLFSCVSISVVLAS>I<AAMCIHSLPEYQARE-AA--------AA-- | 253 |
| KCNS2 | RQLWLALDNPGYSVLSRVFSILSILVVMGS>I<ITMCLNSLPDFQIPD-SQ--------GN-- | 220 |
| KCNS3 | KKIWIRMENPAYCLSAKLIAISSLSVVLAS>I<VAMCVHSMSEFQNED-GE------------ | 216 |
| KCNV1 | QKLWNILEKPGSSTAARIFGVISIIFVVVS>I<INMALMSAEL-----------------S-- | 235 |
| KCNV2 | RRLWNLMEKPFSSVAAKAIGVASSTFVLVS>V<VALALNTVEEMQQHS-GQ--------GE-- | 293 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L137F | c.409C>T | Inherited Arrhythmia | LQTS | rs199473450 | SIFT: deleterious Polyphen: possibly 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 | ||