No paralogue variants have been mapped to residue 92 for KCNH2.
KCNH2 | -------------------------GAEE->R<-------KVE-IAFYRK-----------DG | 103 |
KCNH1 | -------------------------NYEM->N<-------SFE-ILMYKK-----------NR | 104 |
KCNH3 | -------------------------EHKE->F<-------KAE-LILYRK-----------SG | 104 |
KCNH4 | -------------------------GHQE->H<-------RAE-ICFYRK-----------DG | 104 |
KCNH5 | -------------------------NYES->N<-------CFE-VLLYKK-----------NR | 102 |
KCNH6 | -------------------------GAEE->C<-------KVD-ILYYRK-----------DA | 103 |
KCNH7 | -------------------------GSEE->R<-------KVE-VTYYHK-----------NG | 103 |
KCNH8 | -------------------------EKTE->F<-------KGE-IMFYKK-----------NG | 104 |
CNGA1 | -------------------------EDDD->S<ASTSEESENEN-PHA-R-----------GS | 65 |
CNGA2 | -------------------------AADDD>T<SSE---------LQR-L-----------AD | 55 |
CNGA3 | -------------------------SSEE->T<SSVLQPGIAME-TRG-L-----------AD | 59 |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | -------------------------AQDT->R<-------PGLRLLLWLEQNLERVLPQPPKS | 176 |
CNGB3 | ------------------------------>-<------------------------------ | |
HCN1 | KASATGAGPAAAEKRLGTPPGGGGAGAKE->H<-------GNS-VCFKVD------------- | 62 |
HCN2 | AASTAKGSPNGECGRGEPQCSPAGPEGPA->R<-------GPK-VSFSCR------------- | 128 |
HCN3 | ------------------------------>-<------------APPPA------------- | 30 |
HCN4 | QPAS-------------------------->-<-------------ASCE------------- | 180 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R92C | c.274C>T | Putative Benign | SIFT: tolerated Polyphen: possibly damaging | ||
p.Arg92Leu | c.275G>T | Unknown | SIFT: Polyphen: |