| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCNV2 | S256W | Cone dystrophy with supernormal rod ERG | Medium | 9 | 16909397 |
To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNQ1.
| KCNQ1 | ----------------VQGRVYNFLERPT->G<WKCFVYHFAVFLIVLVCLIFSVLSTIEQYA | 149 |
| KCNQ2 | ----------------LQNFLYNVLERPR->G<-WAFIYHAYVFLLVFSCLVLSVFSTIKEYE | 119 |
| KCNQ3 | ----------------IQTLIYDALERPR->G<-WALLYHALVFLIVLGCLILAVLTTFKEYE | 149 |
| KCNQ4 | ----------------LQNWVYNVLERPR->G<-WAFVYHVFIFLLVFSCLVLSVLSTIQEHQ | 125 |
| KCNQ5 | ----------------VQNYLYNVLERPR->G<-WAFIYHAFVFLLVFGCLILSVFSTIPEHT | 153 |
| KCNA1 | -----------P-EKEYQRQVWLLFEYPES>S<GPARVIAIVSVMVILISIVIFCLETLPELK | 193 |
| KCNA10 | -----------P-TNDIHRQFWLLFEYPES>S<SAARAVAVVSVLVVVISITIFCLETLPEFR | 242 |
| KCNA2 | -----------P-ENEFQRQVWLLFEYPES>S<GPARIIAIVSVMVILISIVSFCLETLPIFR | 189 |
| KCNA3 | -----------P-RRDFQRQVWLLFEYPES>S<GPARGIAIVSVLVILISIVIFCLETLPEFR | 260 |
| KCNA4 | -----------P-ENEFKKQIWLLFEYPES>S<SPARGIAIVSVLVILISIVIFCLETLPEFR | 333 |
| KCNA5 | -----------P-RNEFQRQVWLIFEYPES>S<GSARAIAIVSVLVILISIITFCLETLPEFR | 276 |
| KCNA6 | -----------P-SQPFQRQVWLLFEYPES>S<GPARGIAIVSVLVILISIVIFCLETLPQFR | 200 |
| KCNA7 | -----------P-RRAFARQLWLLFEFPES>S<QAARVLAVVSVLVILVSIVVFCLETLPDFR | 169 |
| KCNB1 | -------DNTC--CAEKRKKLWDLLEKPNS>S<VAAKILAIISIMFIVLSTIALSLNTLPELQ | 215 |
| KCNB2 | -------DNTC--CPDKRKKLWDLLEKPNS>S<VAAKILAIVSILFIVLSTIALSLNTLPELQ | 219 |
| KCNC1 | -------RPGGF-WRRWQPRIWALFEDPYS>S<RYARYVAFASLFFILVSITTFCLETHERFN | 216 |
| KCNC2 | -------KSGR--WRRLQPRMWALFEDPYS>S<RAARFIAFASLFFILVSITTFCLETHEAFN | 255 |
| KCNC3 | PPGGAGGAGGTW-WRRWQPRVWALFEDPYS>S<RAARYVAFASLFFILISITTFCLETHEGFI | 316 |
| KCNC4 | -------GSGG--CRGWQPRMWALFEDPYS>S<RAARVVAFASLFFILVSITTFCLETHEAFN | 252 |
| KCND1 | -----------PAGSSLRQRLWRAFENPHT>S<TAALVFYYVTGFFIAVSVIANVVETIPCRG | 212 |
| KCND2 | -----------PTMT-ARQRVWRAFENPHT>S<TMALVFYYVTGFFIAVSVIANVVETVPCGS | 211 |
| KCND3 | -----------PSLS-FRQTMWRAFENPHT>S<TLALVFYYVTGFFIAVSVITNVVETVPCGT | 209 |
| KCNF1 | -------AEGR--WRRCQKCVWKFLEKPES>S<CPARVVAVLSFLLILVSSVVMCMGTIPELQ | 208 |
| KCNG1 | -------GEGRL-GR-CMRRLRDMVERPHS>G<LPGKVFACLSVLFVTVTAVNLSVSTLPSLR | 253 |
| KCNG2 | -------PRGRL-QR-GRRRLRDVVDNPHS>G<LAGKLFACVSVSFVAVTAVGLCLSTMPDIR | 203 |
| KCNG3 | -------AEAAP-SRRWLERMRRTFEEPTS>S<LAAQILASVSVVFVIVSMVVLCASTLPDWR | 197 |
| KCNG4 | -------HSSRW-GL-CMNRLREMVENPQS>G<LPGKVFACLSILFVATTAVSLCVSTMPDLR | 247 |
| KCNS1 | -------GAAR--CGRLRRRLWLTMENPGY>S<LPSKLFSCVSISVVLASIAAMCIHSLPEYQ | 246 |
| KCNS2 | -------DGQP--LGNFRRQLWLALDNPGY>S<VLSRVFSILSILVVMGSIITMCLNSLPDFQ | 213 |
| KCNS3 | -------DTLR--FGQLRKKIWIRMENPAY>C<LSAKLIAISSLSVVLASIVAMCVHSMSEFQ | 211 |
| KCNV1 | -------SQGP--CPTVRQKLWNILEKPGS>S<TAARIFGVISIIFVVVSIINMALMSAEL-- | 234 |
| KCNV2 | -------RDMRF-YGPQRRRLWNLMEKPFS>S<VAAKAIGVASSTFVLVSVVALALNTVEEMQ | 286 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G119D | c.356G>A | Putative Benign | rs199472680 | SIFT: deleterious Polyphen: probably damaging | |
| Reports | Putative Benign | Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore. Br J Clin Pharmacol. 2006 61(3):301-8. 16487223 | |||
| p.G119R | c.355G>C | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661 | ||