No paralogue variants have been mapped to residue 109 for KCNQ1.
KCNQ1 | ---------------------------VQG>R<VYNFLERPT-GWKCFVYHFAVFLIVLVCLI | 138 |
KCNQ2 | ---------------------------LQN>F<LYNVLERPR-G-WAFIYHAYVFLLVFSCLV | 108 |
KCNQ3 | ---------------------------IQT>L<IYDALERPR-G-WALLYHALVFLIVLGCLI | 138 |
KCNQ4 | ---------------------------LQN>W<VYNVLERPR-G-WAFVYHVFIFLLVFSCLV | 114 |
KCNQ5 | ---------------------------VQN>Y<LYNVLERPR-G-WAFIYHAFVFLLVFGCLI | 142 |
KCNA1 | ----------------------P-EKEYQR>Q<VWLLFEYPESSGPARVIAIVSVMVILISIV | 182 |
KCNA10 | ----------------------P-TNDIHR>Q<FWLLFEYPESSSAARAVAVVSVLVVVISIT | 231 |
KCNA2 | ----------------------P-ENEFQR>Q<VWLLFEYPESSGPARIIAIVSVMVILISIV | 178 |
KCNA3 | ----------------------P-RRDFQR>Q<VWLLFEYPESSGPARGIAIVSVLVILISIV | 249 |
KCNA4 | ----------------------P-ENEFKK>Q<IWLLFEYPESSSPARGIAIVSVLVILISIV | 322 |
KCNA5 | ----------------------P-RNEFQR>Q<VWLIFEYPESSGSARAIAIVSVLVILISII | 265 |
KCNA6 | ----------------------P-SQPFQR>Q<VWLLFEYPESSGPARGIAIVSVLVILISIV | 189 |
KCNA7 | ----------------------P-RRAFAR>Q<LWLLFEFPESSQAARVLAVVSVLVILVSIV | 158 |
KCNB1 | ----------F-------DNTC--CAEKRK>K<LWDLLEKPNSSVAAKILAIISIMFIVLSTI | 204 |
KCNB2 | ----------F-------DNTC--CPDKRK>K<LWDLLEKPNSSVAAKILAIVSILFIVLSTI | 208 |
KCNC1 | SDS-----PDG-------RPGGF-WRRWQP>R<IWALFEDPYSSRYARYVAFASLFFILVSIT | 205 |
KCNC2 | EDAAGLGGPDG-------KSGR--WRRLQP>R<MWALFEDPYSSRAARFIAFASLFFILVSIT | 244 |
KCNC3 | QDAG--GGAGGPPGGAGGAGGTW-WRRWQP>R<VWALFEDPYSSRAARYVAFASLFFILISIT | 305 |
KCNC4 | HEGG--AGHGA-------GSGG--CRGWQP>R<MWALFEDPYSSRAARVVAFASLFFILVSIT | 241 |
KCND1 | ----------------------PAGSSLRQ>R<LWRAFENPHTSTAALVFYYVTGFFIAVSVI | 201 |
KCND2 | ----------------------PTMT-ARQ>R<VWRAFENPHTSTMALVFYYVTGFFIAVSVI | 200 |
KCND3 | ----------------------PSLS-FRQ>T<MWRAFENPHTSTLALVFYYVTGFFIAVSVI | 198 |
KCNF1 | ----------A-------AEGR--WRRCQK>C<VWKFLEKPESSCPARVVAVLSFLLILVSSV | 197 |
KCNG1 | ----------E-------GEGRL-GR-CMR>R<LRDMVERPHSGLPGKVFACLSVLFVTVTAV | 242 |
KCNG2 | ----------G-------PRGRL-QR-GRR>R<LRDVVDNPHSGLAGKLFACVSVSFVAVTAV | 192 |
KCNG3 | ----------G-------AEAAP-SRRWLE>R<MRRTFEEPTSSLAAQILASVSVVFVIVSMV | 186 |
KCNG4 | ----------S-------HSSRW-GL-CMN>R<LREMVENPQSGLPGKVFACLSILFVATTAV | 236 |
KCNS1 | ----------Y-------GAAR--CGRLRR>R<LWLTMENPGYSLPSKLFSCVSISVVLASIA | 235 |
KCNS2 | ----------F-------DGQP--LGNFRR>Q<LWLALDNPGYSVLSRVFSILSILVVMGSII | 202 |
KCNS3 | ----------F-------DTLR--FGQLRK>K<IWIRMENPAYCLSAKLIAISSLSVVLASIV | 200 |
KCNV1 | ----------F-------SQGP--CPTVRQ>K<LWNILEKPGSSTAARIFGVISIIFVVVSII | 225 |
KCNV2 | ----------F-------RDMRF-YGPQRR>R<LWNLMEKPFSSVAAKAIGVASSTFVLVSVV | 275 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R109L | c.326G>T | Putative Benign | SIFT: Polyphen: |