No paralogue variants have been mapped to residue 910 for KCNH2.
KCNH2 | RKLSFRRRTDKDT--EQ-----PGEVSALG>P<GRAGAGPSSRGRPGG---P--WGESPSSGP | 935 |
KCNH1 | APLILPPDHPVRRLFQRF-----RQQKEAR>L<-AAERGGRDLDDLDV---E--KGNVLTEHA | 776 |
KCNH3 | ----D--NTLMSTLEEKE-----TDGEQG->-<-P-TVSPAPADEPSS---P--LLSPGCTSS | 761 |
KCNH4 | ESLGSSSDKTLPSITEAE-----SGAEPGG>G<PRPR-RPLLLPNLSP---A--RPR--GSLV | 759 |
KCNH5 | VTLSIPVDHPVRKLFQKF-----KQQKELR>N<QGSTQGDPERNQLQV---E--SRSLQNGAS | 746 |
KCNH6 | GFFLSDNQSGSPH--ELGPQFPSKGYSLLG>P<GSQNSMG------AG---P--CAPG-HPDA | 782 |
KCNH7 | RKLSFESEGEKE-------------NSTND>P<EDSADTIRHYQSSKR---H--FEEKKSRSS | 935 |
KCNH8 | KGNGN-INKRLPSIVEDE-----EEEEEGE>E<EEAVSLSPICTRGSS---S--RNKKVGSNK | 746 |
CNGA1 | E--GSVDLLQTRFARILA-----EYESMQQ>K<LKQRLTKVEKFLKP-----LIDTEFSSIEG | 679 |
CNGA2 | E--TNMETLYTRFGRLLA-----EYTGAQQ>K<LKQRITVLETKMKQ-----NNEDDYLSDGM | 653 |
CNGA3 | G--SSLDTLQTRFARLLA-----EYNATQM>K<MKQRLSQLESQVKG-----GG-DKPLADGE | 681 |
CNGA4 | D--QQLDDLQTKFARLLA-----ELESSAL>K<IAYRIERLEWQTREW---PMPEDLAEADDE | 551 |
CNGB1 | --LAMTGKMGGKGAKGGK-----LAHLRAR>L<KELAALEAAAKQQEL---V--EQAKSSQDV | 1161 |
CNGB3 | --LGGTGKASL-----------------AR>L<LKLKREQAAQKKENSEGGE--EEGKENEDK | 719 |
HCN1 | --ENEILKQIVKHDREMV-----QAIAPIN>Y<PQMTTLNSTSSTTTP---T--SRMRTQSPP | 666 |
HCN2 | --ENAIIQEIVKYDREMV-----QQAELGQ>R<VGLFPPPPPPPQVTS---A--IATLQQAAA | 735 |
HCN3 | --GGIMEQHLVQHDRDMA-----RGVRGRA>P<STGAQLSGKPVLWEP---L--VHAPLQAAA | 615 |
HCN4 | --ENEIIQQIVQHDREMA-----HCAHRVQ>A<AASATPTPTPVIWTP---L--IQAPLQAAA | 786 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P910L | c.2729C>T | Putative Benign | rs199473436 | SIFT: tolerated Polyphen: benign | |
Reports | Putative Benign | Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003 78(12):1479-87. 14661677 | |||
Putative Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 |