No paralogue variants have been mapped to residue 843 for KCNH2.
KCNH2 | ---GKSNGDVRALTYCDLHKIHRDDLLEVL>D<MYPEFSDHFWSSL--EIT-FNLRDTNM-IP | 869 |
KCNH1 | ---AQSCANVRALTYCDLHVIKRDALQKVL>E<FYTAFSHSFSRNL--ILT-YNLRKRIV-FR | 708 |
KCNH3 | ---VKANADVKGLTYCVLQCLQLAGLHDSL>A<LYPEFAPRFSRGLRGELS-YNLGAGGG-SA | 711 |
KCNH4 | NFVLKTSADVKALTYCGLQQLSSRGLAEVL>R<LYPEYGAAFRAGLPRDLT-FNLRQGSD-TS | 695 |
KCNH5 | ---AHACANVRALTYCDLHIIKREALLKVL>D<FYTAFANSFSRNL--TLT-CNLRKRII-FR | 677 |
KCNH6 | ---GKSSADVRALTYCDLHKIQRADLLEVL>D<MYPAFAESFWSKL--EVT-FNLRDAAG-GL | 721 |
KCNH7 | ---GKSNADVRALTYCDLHKIQREDLLEVL>D<MYPEFSDHFLTNL--ELT-FNLRHESA-KA | 872 |
KCNH8 | ---IKTNADVKALTYCDLQCIILKGLFEVL>D<LYPEYAHKFVEDIQHDLT-YNLREGHE-SD | 680 |
CNGA1 | ---NRRTANIKSIGYSDLFCLSKDDLMEAL>T<EYPDAKTMLEEKGKQILMKDGLLDLNI-AN | 615 |
CNGA2 | ---NRRTANIRSLGYSDLFCLSKDDLMEAV>T<EYPDAKKVLEERGREILMKEGLLDENE-VA | 590 |
CNGA3 | ---NRRTANIRSIGYSDLFCLSKDDLMEAL>T<EYPEAKKALEEKGRQILMKDNLIDEEL-AR | 618 |
CNGA4 | ---NRRTANIKSLGYSDLFCLSKEDLREVL>S<EYPQAQTIMEEKGREILLKMNKLDVNA-EA | 484 |
CNGB1 | ---NRRTANVVAHGFTNLFILDKKDLNEIL>V<HYPESQKLLRKKARRMLRSNNKPK------ | 1091 |
CNGB3 | ---NRRTANVVAHGFANLLTLDKKTLQEIL>V<HYPDSERILMKKARVLLKQKAKTA-EATPP | 658 |
HCN1 | ----RRTASVRADTYCRLYSLSVDNFNEVL>E<EYPMMRRAFETVAIDRLDRIGKKNSIL-LQ | 603 |
HCN2 | ----RRTASVRADTYCRLYSLSVDNFNEVL>E<EYPMMRRAFETVAIDRLDRIGKKNSIL-LH | 672 |
HCN3 | ----RRTASVRADTYCRLYSLSVDHFNAVL>E<EFPMMRRAFETVAMDRLLRIGKKNSIL-QR | 556 |
HCN4 | ----RRTASVRADTYCRLYSLSVDNFNEVL>E<EYPMMRRAFETVALDRLDRIGKKNSIL-LH | 723 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D843V | c.2528A>T | Putative Benign | SIFT: deleterious Polyphen: probably damaging |