No paralogue variants have been mapped to residue 116 for KCNQ1.
KCNQ1 | --------------------VQGRVYNFLE>R<PT-GWKCFVYHFAVFLIVLVCLIFSVLSTI | 145 |
KCNQ2 | --------------------LQNFLYNVLE>R<PR-G-WAFIYHAYVFLLVFSCLVLSVFSTI | 115 |
KCNQ3 | --------------------IQTLIYDALE>R<PR-G-WALLYHALVFLIVLGCLILAVLTTF | 145 |
KCNQ4 | --------------------LQNWVYNVLE>R<PR-G-WAFVYHVFIFLLVFSCLVLSVLSTI | 121 |
KCNQ5 | --------------------VQNYLYNVLE>R<PR-G-WAFIYHAFVFLLVFGCLILSVFSTI | 149 |
KCNA1 | ---------------P-EKEYQRQVWLLFE>Y<PESSGPARVIAIVSVMVILISIVIFCLETL | 189 |
KCNA10 | ---------------P-TNDIHRQFWLLFE>Y<PESSSAARAVAVVSVLVVVISITIFCLETL | 238 |
KCNA2 | ---------------P-ENEFQRQVWLLFE>Y<PESSGPARIIAIVSVMVILISIVSFCLETL | 185 |
KCNA3 | ---------------P-RRDFQRQVWLLFE>Y<PESSGPARGIAIVSVLVILISIVIFCLETL | 256 |
KCNA4 | ---------------P-ENEFKKQIWLLFE>Y<PESSSPARGIAIVSVLVILISIVIFCLETL | 329 |
KCNA5 | ---------------P-RNEFQRQVWLIFE>Y<PESSGSARAIAIVSVLVILISIITFCLETL | 272 |
KCNA6 | ---------------P-SQPFQRQVWLLFE>Y<PESSGPARGIAIVSVLVILISIVIFCLETL | 196 |
KCNA7 | ---------------P-RRAFARQLWLLFE>F<PESSQAARVLAVVSVLVILVSIVVFCLETL | 165 |
KCNB1 | ---F-------DNTC--CAEKRKKLWDLLE>K<PNSSVAAKILAIISIMFIVLSTIALSLNTL | 211 |
KCNB2 | ---F-------DNTC--CPDKRKKLWDLLE>K<PNSSVAAKILAIVSILFIVLSTIALSLNTL | 215 |
KCNC1 | -PDG-------RPGGF-WRRWQPRIWALFE>D<PYSSRYARYVAFASLFFILVSITTFCLETH | 212 |
KCNC2 | GPDG-------KSGR--WRRLQPRMWALFE>D<PYSSRAARFIAFASLFFILVSITTFCLETH | 251 |
KCNC3 | GAGGPPGGAGGAGGTW-WRRWQPRVWALFE>D<PYSSRAARYVAFASLFFILISITTFCLETH | 312 |
KCNC4 | GHGA-------GSGG--CRGWQPRMWALFE>D<PYSSRAARVVAFASLFFILVSITTFCLETH | 248 |
KCND1 | ---------------PAGSSLRQRLWRAFE>N<PHTSTAALVFYYVTGFFIAVSVIANVVETI | 208 |
KCND2 | ---------------PTMT-ARQRVWRAFE>N<PHTSTMALVFYYVTGFFIAVSVIANVVETV | 207 |
KCND3 | ---------------PSLS-FRQTMWRAFE>N<PHTSTLALVFYYVTGFFIAVSVITNVVETV | 205 |
KCNF1 | ---A-------AEGR--WRRCQKCVWKFLE>K<PESSCPARVVAVLSFLLILVSSVVMCMGTI | 204 |
KCNG1 | ---E-------GEGRL-GR-CMRRLRDMVE>R<PHSGLPGKVFACLSVLFVTVTAVNLSVSTL | 249 |
KCNG2 | ---G-------PRGRL-QR-GRRRLRDVVD>N<PHSGLAGKLFACVSVSFVAVTAVGLCLSTM | 199 |
KCNG3 | ---G-------AEAAP-SRRWLERMRRTFE>E<PTSSLAAQILASVSVVFVIVSMVVLCASTL | 193 |
KCNG4 | ---S-------HSSRW-GL-CMNRLREMVE>N<PQSGLPGKVFACLSILFVATTAVSLCVSTM | 243 |
KCNS1 | ---Y-------GAAR--CGRLRRRLWLTME>N<PGYSLPSKLFSCVSISVVLASIAAMCIHSL | 242 |
KCNS2 | ---F-------DGQP--LGNFRRQLWLALD>N<PGYSVLSRVFSILSILVVMGSIITMCLNSL | 209 |
KCNS3 | ---F-------DTLR--FGQLRKKIWIRME>N<PAYCLSAKLIAISSLSVVLASIVAMCVHSM | 207 |
KCNV1 | ---F-------SQGP--CPTVRQKLWNILE>K<PGSSTAARIFGVISIIFVVVSIINMALMSA | 232 |
KCNV2 | ---F-------RDMRF-YGPQRRRLWNLME>K<PFSSVAAKAIGVASSTFVLVSVVALALNTV | 282 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Arg116His | c.347G>A | Unknown | SIFT: Polyphen: |