No paralogue variants have been mapped to residue 952 for KCNH2.
KCNH2 | SSGPSS-------PESSEDEGP---GRSSS>P<LRLVPFSSP-RPPGEPPGGEPLMEDC---- | 977 |
KCNH1 | TEHASA-------NHSLVKASV---VTVRE>S<PATPVSFQA-ASTSGVPDHAKLQAPGS--- | 819 |
KCNH3 | CTSSSSAAKLLSPRRTAPRPRL---GGRGR>P<GRAGALKAE-AGPSAPPRALEG-------- | 806 |
KCNH4 | GSLVSLLGEELPPFSALVSSPS---LSPSL>S<PALAGQGHS-ASPHGPPRCSAAWKPPQ--- | 809 |
KCNH5 | NGASIT-------GTSVVTVSQ---ITPIQ>T<SLAYVKTSE-SLKQNNRDAMELKPNGG--- | 789 |
KCNH6 | HPDAAP-------PLSISDASG---LWPEL>L<QEMPPRHSP-QSPQEDPDCWPLKLGSR--- | 825 |
KCNH7 | SRSSSF-------ISSIDDEQK---PLFSG>I<VDSSPGIGK-ASGLDFEETVPTSGRMH--- | 978 |
KCNH8 | GSNKAYLGLSLKQLASGT-VPF---HSPIR>V<SRSNSPKTK-QEIDPPNHNKRKEKNLK--- | 795 |
CNGA1 | SIEGPG---------AESGPID---S---->-<------------------------------ | 689 |
CNGA2 | SDGMNS---------PELAAAD---E---->-<------------------------------ | 663 |
CNGA3 | ADGEVPG-------DATKTEDK---Q---->-<------------------------------ | 693 |
CNGA4 | ADDEGE---------PEEGTSK---DE--->-<------------------------------ | 562 |
CNGB1 | SQDVKGE-------EGSAAPDQ-------->-<--HTHPKEA--------------------- | 1179 |
CNGB3 | NEDKQKE-------NEDKQKEN-------->-<--EDKGKE---------------------- | 736 |
HCN1 | QSPPVYT-------ATSLSHSNL-H----->-<--S--------------------------- | 680 |
HCN2 | QAAAMSF-------CPQVARPLVGP----->-<------------------------------ | 749 |
HCN3 | QAAAVTS-------NVAIALTHQRG----->-<--P--------------------------- | 630 |
HCN4 | QAAAATT-------SVAIALTHHPRLPAAI>F<RPPPGSGLGNLGAGQTPRHLKRLQSLIPSA | 836 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P952R | c.2855C>G | Putative Benign | SIFT: Polyphen: | ||
p.P952S | c.2854C>T | Putative Benign | SIFT: Polyphen: |