No paralogue variants have been mapped to residue 829 for KCNH2.
KCNH2 | LNLYAR------P----GKSNGDVRALTYC>D<LHKIHRDDLLEVLDMYPEFSDHFWSSL--E | 857 |
KCNH1 | FWKEAT------L----AQSCANVRALTYC>D<LHVIKRDALQKVLEFYTAFSHSFSRNL--I | 696 |
KCNH3 | LPRREQ------V----VKANADVKGLTYC>V<LQCLQLAGLHDSLALYPEFAPRFSRGLRGE | 699 |
KCNH4 | IPEPGQEPGLGADPNFVLKTSADVKALTYC>G<LQQLSSRGLAEVLRLYPEYGAAFRAGLPRD | 683 |
KCNH5 | FWKETT------L----AHACANVRALTYC>D<LHIIKREALLKVLDFYTAFANSFSRNL--T | 665 |
KCNH6 | VSLHAQ------P----GKSSADVRALTYC>D<LHKIQRADLLEVLDMYPAFAESFWSKL--E | 709 |
KCNH7 | VHLYAK------P----GKSNADVRALTYC>D<LHKIQREDLLEVLDMYPEFSDHFLTNL--E | 860 |
KCNH8 | LSIKDQ------V----IKTNADVKALTYC>D<LQCIILKGLFEVLDLYPEYAHKFVEDIQHD | 668 |
CNGA1 | SILNIKGSKA--G----NRRTANIKSIGYS>D<LFCLSKDDLMEALTEYPDAKTMLEEKGKQI | 602 |
CNGA2 | SILNIKGSKM--G----NRRTANIRSLGYS>D<LFCLSKDDLMEAVTEYPDAKKVLEERGREI | 577 |
CNGA3 | SILNIKGSKS--G----NRRTANIRSIGYS>D<LFCLSKDDLMEALTEYPEAKKALEEKGRQI | 605 |
CNGA4 | SIINIKGNMS--G----NRRTANIKSLGYS>D<LFCLSKEDLREVLSEYPQAQTIMEEKGREI | 471 |
CNGB1 | SLLAVGG-----G----NRRTANVVAHGFT>N<LFILDKKDLNEILVHYPESQKLLRKKARRM | 1083 |
CNGB3 | SLLAAGG-----G----NRRTANVVAHGFA>N<LLTLDKKTLQEILVHYPDSERILMKKARVL | 645 |
HCN1 | CLLTKG------------RRTASVRADTYC>R<LYSLSVDNFNEVLEEYPMMRRAFETVAIDR | 590 |
HCN2 | CLLTRG------------RRTASVRADTYC>R<LYSLSVDNFNEVLEEYPMMRRAFETVAIDR | 659 |
HCN3 | CLLTRG------------RRTASVRADTYC>R<LYSLSVDHFNAVLEEFPMMRRAFETVAMDR | 543 |
HCN4 | CLLTRG------------RRTASVRADTYC>R<LYSLSVDNFNEVLEEYPMMRRAFETVALDR | 710 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D829E | c.2487C>G | Putative Benign | SIFT: Polyphen: |