Paralogue Annotation for KCNH2 residue 1150

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 1150
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNH2 residue 1150

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CNGB3	E805D	Cone-rod dystrophy	Low	2	23776498

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	--------PTRRLSLPGQL---GALTSQP->L<HRHGSDPG----------------------	1158
KCNH1	---------------SQSP---QELFEISR>P<QSPESERDIFGA------------------	988
KCNH3	------PPPSEEGAR-TGP---AEPVSQAE>A<TSTGEPPPGSGGLALPWDPHSLEMVLIGCH	1068
KCNH4	------PSPVPEASPPTPS---LLRHSFQS>R<SDTF--------------------------	1016
KCNH5	M------PLQVP--PQIPC---QDIFSVSR>P<ESPESDKDEIH-------------------	987
KCNH6	--------P-CFSSLPEHL---GSVPKQLD>F<QRHGSDPGFAGSWG----------------	993
KCNH7	--------PIRHPSLPDSS---LSTVGIVG>L<HRHVSDPGLPG-------------------	1195
KCNH8	SLHLVLPSRSEEGSFSQGT---VSSFSLEN>L<PGSWNQEGMASASTKPLENLPLEVVTS---	1095
CNGA1	------------------------------>-<------------------------------
CNGA2	------------------------------>-<------------------------------
CNGA3	------------------------------>-<------------------------------
CNGA4	------------------------------>-<------------------------------
CNGB1	-------------MSPGPEPGEQILSVKMP>E<EREE-KAE----------------------	1251
CNGB3	-------------MAPSAEGGEEVLTIEVK>E<KAKQ--------------------------	809
HCN1	-----------AAALPRES---SSVLNTD->P<-DAEKP-RFASN------------------	889
HCN2	-----------DSASPGAA---GG---LD->P<QDSARS-RLSSN------------------	888
HCN3	-----------EPATP-------------->-<---RGL-QLSAN------------------	773
HCN4	-----------LTAGPQRE---PG---AR->P<-EPVRS-KLPSN------------------	1202
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L1150M	c.3448C>A	Putative Benign			SIFT: Polyphen: