| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| KCND3 | T352P | Spinocerebellar ataxia 19 | Medium | 9 | 23280838, 25854634 |
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 | GLIFSSYFVYLAEKDAVN-----ESGRVEF>G<SYADALWWGVVTVTTIGYGDKVPQTWVGKT | 327 |
| KCNQ2 | CLILASFLVYLAEKGE----------NDHF>D<TYADALWWGLITLTTIGYGDKYPQTWNGRL | 292 |
| KCNQ3 | TLILSSFLVYLVEKDVPEVDAQGEEMKEEF>E<TYADALWWGLITLATIGYGDKTPKTWEGRL | 331 |
| KCNQ4 | VLIFASFLVYLAEKDA----------NSDF>S<SYADSLWWGTITLTTIGYGDKTPHTWLGRV | 298 |
| KCNQ5 | VLIFSSFLVYLVEKDA----------NKEF>S<TYADALWWGTITLTTIGYGDKTPLTWLGRL | 326 |
| KCNA1 | GVILFSSAVYFAEAEE---------AESHF>S<SIPDAFWWAVVSMTTVGYGDMYPVTIGGKI | 387 |
| KCNA10 | GVILFSSAVYFAEVDE---------PESHF>S<SIPDGFWWAVVTMTTVGYGDMCPTTPGGKI | 436 |
| KCNA2 | GVILFSSAVYFAEADE---------RESQF>P<SIPDAFWWAVVSMTTVGYGDMVPTTIGGKI | 389 |
| KCNA3 | GVILFSSAVYFAEADD---------PTSGF>S<SIPDAFWWAVVTMTTVGYGDMHPVTIGGKI | 459 |
| KCNA4 | GVILFSSAVYFAEADE---------PTTHF>Q<SIPDAFWWAVVTMTTVGYGDMKPITVGGKI | 539 |
| KCNA5 | GVILFSSAVYFAEADN---------QGTHF>S<SIPDAFWWAVVTMTTVGYGDMRPITVGGKI | 495 |
| KCNA6 | GVILFSSAVYFAEADD---------DDSLF>P<SIPDAFWWAVVTMTTVGYGDMYPMTVGGKI | 437 |
| KCNA7 | GVVLFSSAVYFAEVDR---------VDSHF>T<SIPESFWWAVVTMTTVGYGDMAPVTVGGKI | 373 |
| KCNB1 | GIMIFSSLVFFAEKDE---------DDTKF>K<SIPASFWWATITMTTVGYGDIYPKTLLGKI | 392 |
| KCNB2 | GIMIFSSLVFFAEKDE---------DATKF>T<SIPASFWWATITMTTVGYGDIYPKTLLGKI | 396 |
| KCNC1 | GVLIFATMIYYAERIGAQPNDPSASEHTHF>K<NIPIGFWWAVVTMTTLGYGDMYPQTWSGML | 415 |
| KCNC2 | GVLIFATMIYYAERVGAQPNDPSASEHTQF>K<NIPIGFWWAVVTMTTLGYGDMYPQTWSGML | 452 |
| KCNC3 | GVLIFATMIYYAERIGADPDDILGSNHTYF>K<NIPIGFWWAVVTMTTLGYGDMYPKTWSGML | 518 |
| KCNC4 | GVLIFATMIYYAERIGARPSDPRGNDHTDF>K<NIPIGFWWAVVTMTTLGYGDMYPKTWSGML | 451 |
| KCND1 | AIIIFATVMFYAEKGT---------NKTNF>T<SIPAAFWYTIVTMTTLGYGDMVPSTIAGKI | 387 |
| KCND2 | AIIIFATVMFYAEKGS---------SASKF>T<SIPAAFWYTIVTMTTLGYGDMVPKTIAGKI | 385 |
| KCND3 | AIIIFATVMFYAEKGS---------SASKF>T<SIPASFWYTIVTMTTLGYGDMVPKTIAGKI | 382 |
| KCNF1 | GIFVFSALGYTMEQSH---------PETLF>K<SIPQSFWWAIITMTTVGYGDIYPKTTLGKL | 385 |
| KCNG1 | AIALFAPLLYVIENEM-----A---DSPEF>T<SIPACYWWAVITMTTVGYGDMVPRSTPGQV | 439 |
| KCNG2 | AMALFAPLVHLAEREL-----G---ARRDF>S<SVPASYWWAVISMTTVGYGDMVPRSLPGQV | 384 |
| KCNG3 | AMAIFSALSQLLEHGL-----DLETSNKDF>T<SIPAACWWVIISMTTVGYGDMYPITVPGRI | 388 |
| KCNG4 | AITLFSPLVYVAEKES-----G---RVLEF>T<SIPASYWWAIISMTTVGYGDMVPRSVPGQM | 433 |
| KCNS1 | GVSVFSGVAYTAEKEE----------DVGF>N<TIPACWWWGTVSMTTVGYGDVVPVTVAGKL | 436 |
| KCNS2 | GISIFSVVAYTIEKEE----------NEGL>A<TIPACWWWATVSMTTVGYGDVVPGTTAGKL | 389 |
| KCNS3 | GISIFSVLIYSVEKDD---------HTSSL>T<SIPICWWWATISMTTVGYGDTHPVTLAGKL | 385 |
| KCNV1 | GISIFSTVEYFAEQSI---------PDTTF>T<SVPCAWWWATTSMTTVGYGDIRPDTTTGKI | 407 |
| KCNV2 | GIFTFSAAVYSVEHDV---------PSTNF>T<TIPHSWWWAAVSISTVGYGDMYPETHLGRF | 472 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G297S | c.889G>A | Putative Benign | rs34320941 | SIFT: tolerated Polyphen: benign | |
| Reports | Putative Benign | Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003 78(12):1479-87. 14661677 | |||
| Putative Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | ||||
| p.G297R | c.889G>C | Putative Benign | SIFT: Polyphen: | ||
| p.G297D | c.890G>A | Putative Benign | SIFT: Polyphen: | ||