No paralogue variants have been mapped to residue 1144 for KCNH2.
KCNH2 | -----EG--------PTRRLSLPGQL---G>A<LTSQP-LHRHGSDPG--------------- | 1158 |
KCNH1 | ----------------------SQSP---Q>E<LFEISRPQSPESERDIFGA----------- | 988 |
KCNH3 | PSTPAS-------PPPSEEGAR-TGP---A>E<PVSQAEATSTGEPPPGSGGLALPWDPHSLE | 1061 |
KCNH4 | -------------PSPVPEASPPTPS---L>L<RHSFQSRSDTF------------------- | 1016 |
KCNH5 | ASSPKSQM------PLQVP--PQIPC---Q>D<IFSVSRPESPESDKDEIH------------ | 987 |
KCNH6 | ---------------P-CFSSLPEHL---G>S<VPKQLDFQRHGSDPGFAGSWG--------- | 993 |
KCNH7 | QRKTYVH--------PIRHPSLPDSS---L>S<TVGIVGLHRHVSDPGLPG------------ | 1195 |
KCNH8 | VCSSSETSLHLVLPSRSEEGSFSQGT---V>S<SFSLENLPGSWNQEGMASASTKPLENLPLE | 1091 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | --------------------MSPGPEPGEQ>I<LSVKMPEEREE-KAE--------------- | 1251 |
CNGB3 | --------------------MAPSAEGGEE>V<LTIEVKEKAKQ------------------- | 809 |
HCN1 | --PP--------------AAALPRES---S>S<VLNTD-P-DAEKP-RFASN----------- | 889 |
HCN2 | --RR--------------DSASPGAA---G>G<---LD-PQDSARS-RLSSN----------- | 888 |
HCN3 | --VP--------------EPATP------->-<----------RGL-QLSAN----------- | 773 |
HCN4 | ---P--------------LTAGPQRE---P>G<---AR-P-EPVRS-KLPSN----------- | 1202 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1144T | c.3430G>A | Inherited Arrhythmia | LQTS | rs199473034 | SIFT: tolerated Polyphen: benign |
Reports | Inherited Arrhythmia | LQTS | Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. Circ J. 2008 72(5):694-9. 18441445 | ||
p.A1144S | c.3430G>T | Putative Benign | rs199473034 | SIFT: tolerated Polyphen: benign |