No paralogue variants have been mapped to residue 960 for KCNH2.
KCNH2 | -----PESSEDEGP---GRSSSPLRLVPFS>S<P-RPPGEPPGGEPLMEDC------------ | 977 |
KCNH1 | -----NHSLVKASV---VTVRESPATPVSF>Q<A-ASTSGVPDHAKLQAPGS----------- | 819 |
KCNH3 | KLLSPRRTAPRPRL---GGRGRPGRAGALK>A<E-AGPSAPPRALEG---------------- | 806 |
KCNH4 | EELPPFSALVSSPS---LSPSLSPALAGQG>H<S-ASPHGPPRCSAAWKPPQ----------- | 809 |
KCNH5 | -----GTSVVTVSQ---ITPIQTSLAYVKT>S<E-SLKQNNRDAMELKPNGG----------- | 789 |
KCNH6 | -----PLSISDASG---LWPELLQEMPPRH>S<P-QSPQEDPDCWPLKLGSR----------- | 825 |
KCNH7 | -----ISSIDDEQK---PLFSGIVDSSPGI>G<K-ASGLDFEETVPTSGRMH----------- | 978 |
KCNH8 | LSLKQLASGT-VPF---HSPIRVSRSNSPK>T<K-QEIDPPNHNKRKEKNLK----------- | 795 |
CNGA1 | -------AESGPID---S------------>-<------------------------------ | 689 |
CNGA2 | -------PELAAAD---E------------>-<------------------------------ | 663 |
CNGA3 | ------DATKTEDK---Q------------>-<------------------------------ | 693 |
CNGA4 | -------PEEGTSK---DE----------->-<------------------------------ | 562 |
CNGB1 | ------EGSAAPDQ-----------HTHPK>E<A----------------------------- | 1179 |
CNGB3 | ------NEDKQKEN-----------EDKGK>E<------------------------------ | 736 |
HCN1 | ------ATSLSHSNL-H--------S---->-<------------------------------ | 680 |
HCN2 | ------CPQVARPLVGP------------->-<------------------------------ | 749 |
HCN3 | ------NVAIALTHQRG--------P---->-<------------------------------ | 630 |
HCN4 | ------SVAIALTHHPRLPAAIFRPPPGSG>L<GNLGAGQTPRHLKRLQSLIPSALGSASPAS | 844 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S960N | c.2879G>A | Inherited Arrhythmia | LQTS | rs199473013 | SIFT: tolerated Polyphen: possibly damaging |
Reports | Inherited Arrhythmia | LQTS | Notched T waves on Holter recordings enhance detection of patients with LQt2 (HERG) mutations. Circulation. 2001 103(8):1095-101. 11222472 |