Paralogue Annotation for KCNH2 residue 908

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 908
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNH2 residue 908

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
HCN4	V759I	Sudden infant death syndrome	Low	2	23623143, 21615589

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNH2.

KCNH2	RKRKLSFRRRTDKDT--EQ-----PGEVSA>L<GPGRAGAGPSSRGRPGG---P--WGESPSS	933
KCNH1	NEAPLILPPDHPVRRLFQRF-----RQQKE>A<RL-AAERGGRDLDDLDV---E--KGNVLTE	774
KCNH3	------D--NTLMSTLEEKE-----TDGEQ>G<---P-TVSPAPADEPSS---P--LLSPGCT	759
KCNH4	RSESLGSSSDKTLPSITEAE-----SGAEP>G<GGPRPR-RPLLLPNLSP---A--RPR--GS	757
KCNH5	NEVTLSIPVDHPVRKLFQKF-----KQQKE>L<RNQGSTQGDPERNQLQV---E--SRSLQNG	744
KCNH6	HQGFFLSDNQSGSPH--ELGPQFPSKGYSL>L<GPGSQNSMG------AG---P--CAPG-HP	780
KCNH7	RRRKLSFESEGEKE-------------NST>N<DPEDSADTIRHYQSSKR---H--FEEKKSR	933
KCNH8	EPKGNGN-INKRLPSIVEDE-----EEEEE>G<EEEEAVSLSPICTRGSS---S--RNKKVGS	744
CNGA1	RME--GSVDLLQTRFARILA-----EYESM>Q<QKLKQRLTKVEKFLKP-----LIDTEFSSI	677
CNGA2	QLE--TNMETLYTRFGRLLA-----EYTGA>Q<QKLKQRITVLETKMKQ-----NNEDDYLSD	651
CNGA3	QLG--SSLDTLQTRFARLLA-----EYNAT>Q<MKMKQRLSQLESQVKG-----GG-DKPLAD	679
CNGA4	GLD--QQLDDLQTKFARLLA-----ELESS>A<LKIAYRIERLEWQTREW---PMPEDLAEAD	549
CNGB1	AA--LAMTGKMGGKGAKGGK-----LAHLR>A<RLKELAALEAAAKQQEL---V--EQAKSSQ	1159
CNGB3	TL--LGGTGKASL----------------->A<RLLKLKREQAAQKKENSEGGE--EEGKENE	717
HCN1	Q---ENEILKQIVKHDREMV-----QAIAP>I<NYPQMTTLNSTSSTTTP---T--SRMRTQS	664
HCN2	Q---ENAIIQEIVKYDREMV-----QQAEL>G<QRVGLFPPPPPPPQVTS---A--IATLQQA	733
HCN3	S---GGIMEQHLVQHDRDMA-----RGVRG>R<APSTGAQLSGKPVLWEP---L--VHAPLQA	613
HCN4	Q---ENEIIQQIVQHDREMA-----HCAHR>V<QAAASATPTPTPVIWTP---L--IQAPLQA	784
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

There are currently no reported variants at residue 908 for KCNH2.