No paralogue variants have been mapped to residue 931 for KCNH2.
KCNH2 | SALGPGRAGAGPSSRGRPGG---P--WGES>P<SSGPSS-------PESSEDEGP---GRSSS | 951 |
KCNH1 | KEARL-AAERGGRDLDDLDV---E--KGNV>L<TEHASA-------NHSLVKASV---VTVRE | 792 |
KCNH3 | EQG---P-TVSPAPADEPSS---P--LLSP>G<CTSSSSAAKLLSPRRTAPRPRL---GGRGR | 784 |
KCNH4 | EPGGGPRPR-RPLLLPNLSP---A--RPR->-<GSLVSLLGEELPPFSALVSSPS---LSPSL | 782 |
KCNH5 | KELRNQGSTQGDPERNQLQV---E--SRSL>Q<NGASIT-------GTSVVTVSQ---ITPIQ | 762 |
KCNH6 | SLLGPGSQNSMG------AG---P--CAPG>-<HPDAAP-------PLSISDASG---LWPEL | 798 |
KCNH7 | STNDPEDSADTIRHYQSSKR---H--FEEK>K<SRSSSF-------ISSIDDEQK---PLFSG | 951 |
KCNH8 | EEGEEEEAVSLSPICTRGSS---S--RNKK>V<GSNKAYLGLSLKQLASGT-VPF---HSPIR | 768 |
CNGA1 | SMQQKLKQRLTKVEKFLKP-----LIDTEF>S<SIEGPG---------AESGPID---S---- | 689 |
CNGA2 | GAQQKLKQRITVLETKMKQ-----NNEDDY>L<SDGMNS---------PELAAAD---E---- | 663 |
CNGA3 | ATQMKMKQRLSQLESQVKG-----GG-DKP>L<ADGEVPG-------DATKTEDK---Q---- | 693 |
CNGA4 | SSALKIAYRIERLEWQTREW---PMPEDLA>E<ADDEGE---------PEEGTSK---DE--- | 562 |
CNGB1 | LRARLKELAALEAAAKQQEL---V--EQAK>S<SQDVKGE-------EGSAAPDQ-------- | 1172 |
CNGB3 | --ARLLKLKREQAAQKKENSEGGE--EEGK>E<NEDKQKE-------NEDKQKEN-------- | 730 |
HCN1 | APINYPQMTTLNSTSSTTTP---T--SRMR>T<QSPPVYT-------ATSLSHSNL-H----- | 679 |
HCN2 | ELGQRVGLFPPPPPPPQVTS---A--IATL>Q<QAAAMSF-------CPQVARPLVGP----- | 749 |
HCN3 | RGRAPSTGAQLSGKPVLWEP---L--VHAP>L<QAAAVTS-------NVAIALTHQRG----- | 629 |
HCN4 | HRVQAAASATPTPTPVIWTP---L--IQAP>L<QAAAATT-------SVAIALTHHPRLPAAI | 805 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P931L | c.2792C>T | Putative Benign | SIFT: Polyphen: |