No paralogue variants have been mapped to residue 887 for KCNH2.
| KCNH2 | P-GSP---GSTELE--------GGFSRQRK>R<KLSFRRRTDKDT--EQ-----PGEVSALGP | 910 |
| KCNH1 | RKISD---VKREEE--------ERMKRKNE>A<PLILPPDHPVRRLFQRF-----RQQKEARL | 752 |
| KCNH3 | AEVDT-----SSLS------------G--->-<---D--NTLMSTLEEKE-----TDGEQG-- | 738 |
| KCNH4 | SGLSR-----FSRS--------PRLSQPRS>E<SLGSSSDKTLPSITEAE-----SGAEPGGG | 737 |
| KCNH5 | RKISD---VKKEEE--------ERLRQKNE>V<TLSIPVDHPVRKLFQKF-----KQQKELRN | 721 |
| KCNH6 | L-------HSSPRQ--------APGSQDHQ>G<FFLSDNQSGSPH--ELGPQFPSKGYSLLGP | 764 |
| KCNH7 | A-DLLRSQSMNDSE--------GDNCKLRR>R<KLSFESEGEKE-------------NSTNDP | 910 |
| KCNH8 | DVISR-----LSNK--------SMVSQSEP>K<GNGN-INKRLPSIVEDE-----EEEEEGEE | 721 |
| CNGA1 | NAGSD---PKDLEE--------K---VTRM>E<--GSVDLLQTRFARILA-----EYESMQQK | 654 |
| CNGA2 | ATS-M---EVDVQE--------K---LGQL>E<--TNMETLYTRFGRLLA-----EYTGAQQK | 628 |
| CNGA3 | RAGAD---PKDLEE--------K---VEQL>G<--SSLDTLQTRFARLLA-----EYNATQMK | 657 |
| CNGA4 | AAEIA---LQEATE--------SR--LRGL>D<--QQLDDLQTKFARLLA-----ELESSALK | 524 |
| CNGB1 | -EE-K-----SVLILPPRAGTPKL--FNAA>-<-LAMTGKMGGKGAKGGK-----LAHLRARL | 1136 |
| CNGB3 | PRK-D-----LALLFPPKEETPKL--FKTL>-<-LGGTGKASL-----------------ARL | 691 |
| HCN1 | QKFQ------KDLNT-------GVFNN-Q->-<-ENEILKQIVKHDREMV-----QAIAPINY | 641 |
| HCN2 | HKVQ------HDLNS-------GVFNN-Q->-<-ENAIIQEIVKYDREMV-----QQAELGQR | 710 |
| HCN3 | RKRS------EPSPG-----------S-S->-<-GGIMEQHLVQHDRDMA-----RGVRGRAP | 590 |
| HCN4 | HKVQ------HDLNS-------GVFNY-Q->-<-ENEIIQQIVQHDREMA-----HCAHRVQA | 761 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R887H | c.2660G>A | Inherited Arrhythmia | LQTS | rs199473432 | SIFT: tolerated Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | ||
| Other Cardiac Phenotype | Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes. Am Heart J. 2006 152(6):1116-22. 17161064 | ||||
| Inherited Arrhythmia | LQTS | High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur J Hum Genet. 2012 20(8):905-8. doi: 10.1038/ejhg.2012.23. 22378279 | |||
| Inherited Arrhythmia | LQTS | Long QT2 mutation on the Kv11.1 ion channel inhibits current activity by ablating a protein kinase Cα consensus site. Mol Pharmacol. 2012 82(3):428-37. doi: 10.1124/mol.112.077966. 22653970 | |||
| Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||
| p.R887C | c.2659C>T | Putative Benign | rs140279503 | SIFT: deleterious Polyphen: probably damaging | |
| p.R887S | c.2659C>A | Putative Benign | SIFT: Polyphen: | ||
| p.R887G | c.2659C>G | Putative Benign | SIFT: Polyphen: | ||