Paralogue Annotation for KCNE1 residue 112

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 112
Reference Amino Acid: H - Histidine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNE1 residue 112

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNE3	R99H	Brugada syndrome	Medium	6	19122847, 19306396, 19306396

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 KCNE1.

KCNE1	-----------------------EN----->H<LAIEQP--NTHLPETKPS------------	128
KCNE2	-----------------------EE----->S<KATIHE--NIGAAGFKMS------------	122
KCNE3	------------------------------>R<VSM---------------------------	102
KCNE4	LQESVAPALSCTLCSMEGDSVSSESSSPDV>H<LTIQEEGADDELEETSETPLNESSEGSSEN	165
cons	> <

See full Alignment of Paralogues

Known Variants in KCNE1

There are currently no reported variants at residue 112 for KCNE1.