No paralogue variants have been mapped to residue 97 for KCNH2.
KCNH2 | ------------GAEE-R-------KVE-I>A<FYRK-----------DGS------------ | 104 |
KCNH1 | ------------NYEM-N-------SFE-I>L<MYKK-----------NRT------------ | 105 |
KCNH3 | ------------EHKE-F-------KAE-L>I<LYRK-----------SGL------------ | 105 |
KCNH4 | ------------GHQE-H-------RAE-I>C<FYRK-----------DGS------------ | 105 |
KCNH5 | ------------NYES-N-------CFE-V>L<LYKK-----------NRT------------ | 103 |
KCNH6 | ------------GAEE-C-------KVD-I>L<YYRK-----------DAS------------ | 104 |
KCNH7 | ------------GSEE-R-------KVE-V>T<YYHK-----------NGS------------ | 104 |
KCNH8 | ------------EKTE-F-------KGE-I>M<FYKK-----------NGS------------ | 105 |
CNGA1 | ------------EDDD-SASTSEESENEN->P<HA-R-----------GSF------------ | 66 |
CNGA2 | ------------AADDDTSSE--------->L<QR-L-----------ADV------------ | 56 |
CNGA3 | ------------SSEE-TSSVLQPGIAME->T<RG-L-----------ADS------------ | 60 |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | ------------AQDT-R-------PGLRL>L<LWLEQNLERVLPQPPKSSEVWRDEPAVATG | 189 |
CNGB3 | ------------------------------>-<------------------------------ | |
HCN1 | KRLGTPPGGGGAGAKE-H-------GNS-V>C<FKVD-------------------------- | 62 |
HCN2 | GRGEPQCSPAGPEGPA-R-------GPK-V>S<FSCR-------------------------- | 128 |
HCN3 | ------------------------------>A<PPPA-------------------------- | 30 |
HCN4 | ------------------------------>-<ASCE-------------------------- | 180 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A97S | c.289G>T | Putative Benign | SIFT: tolerated Polyphen: benign | ||
p.Ala97Gly | c.290C>G | Unknown | SIFT: Polyphen: |