No paralogue variants have been mapped to residue 875 for KCNH2.
KCNH2 | WSSL--EIT-FNLRDTNM-IP-GSP---GS>T<ELE--------GGFSRQRKRKLSFRRRTDK | 897 |
KCNH1 | SRNL--ILT-YNLRKRIV-FRKISD---VK>R<EEE--------ERMKRKNEAPLILPPDHPV | 737 |
KCNH3 | SRGLRGELS-YNLGAGGG-SAEVDT----->S<SLS------------G-------D--NTLM | 725 |
KCNH4 | RAGLPRDLT-FNLRQGSD-TSGLSR----->F<SRS--------PRLSQPRSESLGSSSDKTL | 722 |
KCNH5 | SRNL--TLT-CNLRKRII-FRKISD---VK>K<EEE--------ERLRQKNEVTLSIPVDHPV | 706 |
KCNH6 | WSKL--EVT-FNLRDAAG-GL-------HS>S<PRQ--------APGSQDHQGFFLSDNQSGS | 746 |
KCNH7 | LTNL--ELT-FNLRHESA-KA-DLLRSQSM>N<DSE--------GDNCKLRRRKLSFESEGEK | 903 |
KCNH8 | VEDIQHDLT-YNLREGHE-SDVISR----->L<SNK--------SMVSQSEPKGNGN-INKRL | 706 |
CNGA1 | EEKGKQILMKDGLLDLNI-ANAGSD---PK>D<LEE--------K---VTRME--GSVDLLQT | 639 |
CNGA2 | EERGREILMKEGLLDENE-VATS-M---EV>D<VQE--------K---LGQLE--TNMETLYT | 613 |
CNGA3 | EEKGRQILMKDNLIDEEL-ARAGAD---PK>D<LEE--------K---VEQLG--SSLDTLQT | 642 |
CNGA4 | EEKGREILLKMNKLDVNA-EAAEIA---LQ>E<ATE--------SR--LRGLD--QQLDDLQT | 509 |
CNGB1 | RKKARRMLRSNNKPK------EE-K----->S<VLILPPRAGTPKL--FNAA--LAMTGKMGG | 1121 |
CNGB3 | MKKARVLLKQKAKTA-EATPPRK-D----->L<ALLFPPKEETPKL--FKTL--LGGTGKASL | 688 |
HCN1 | ETVAIDRLDRIGKKNSIL-LQKFQ------>K<DLNT-------GVFNN-Q---ENEILKQIV | 626 |
HCN2 | ETVAIDRLDRIGKKNSIL-LHKVQ------>H<DLNS-------GVFNN-Q---ENAIIQEIV | 695 |
HCN3 | ETVAMDRLLRIGKKNSIL-QRKRS------>E<PSPG-----------S-S---GGIMEQHLV | 575 |
HCN4 | ETVALDRLDRIGKKNSIL-LHKVQ------>H<DLNS-------GVFNY-Q---ENEIIQQIV | 746 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T875M | c.2624C>T | Putative Benign | rs140743924 | SIFT: tolerated Polyphen: possibly 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 |