No paralogue variants have been mapped to residue 1092 for KCNH2.
KCNH2 | -----------------------GPGPTST>S<PLL-----PVSPLP-TLTLDSLSQVSQFMA | 1116 |
KCNH1 | KHSF-------------YPIPEQTLQATVL>E<VRH-----ELKEDIKALNAKMTNIEKQLSE | 953 |
KCNH3 | EGP-------------CPRAS-----GEGP>C<PASTSGLLQPLCVDTGASSYCLQPPAGSVL | 957 |
KCNH4 | -----------------GHPAGSAWTPDPP>C<PQL-----RP-----PCLSPCASRPPPSLQ | 949 |
KCNH5 | KHPF-------------YPIPEQALQTTLQ>E<VKH-----ELKEDIQLLSCRMTALEKQVAE | 937 |
KCNH6 | -----------------------KTLAPSS>E<QEQ-----PEGLWP-PLASPLHPLEVQGLI | 958 |
KCNH7 | EYQR-------------PIIQLMRTSQPEA>S<IKT-----DRSFSPSSQCPEFLDLEKSKLK | 1121 |
KCNH8 | PSRFCSLHSTSVCPSRESLQTRTSWSAHQP>C<LHL-----QTGGAAYTQAQLCSSNITSDIW | 959 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | ----------------------LGRPEGEE>E<GPA-----EPEEHSVRIC------------ | 1226 |
CNGB3 | ----------------------VRR----T>V<LPR-----GTSRQSLIIS------------ | 787 |
HCN1 | GLQ-----------------AG----G--->R<ST--------------VP-QRVTLFRQMSS | 847 |
HCN2 | --------------------------S--->S<T-------------PRLG-P---------- | 850 |
HCN3 | --------------------------G--->S<E-------------R-LP-PSGLL------ | 745 |
HCN4 | GS------------------------S--->G<GLG-----PPGRPYGAIPGQHVTLPRKTSS | 1158 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S1092F | c.3275C>T | Putative Benign | rs147510453 | SIFT: deleterious Polyphen: probably damaging |