Paralogue Annotation for RYR1 residue 204

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 204
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 204

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR2	I217V	Long QT syndrome	High	8	22677073, 24025405, 27153395, 27194543

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 RYR1.

RYR1	SSERYLHLSTASGELQVDASFMQTLWNMNP>I<CSR--CEEGFVTGGHVLRLFHGHMDECLTI	232
RYR2	SSERYLHLSYGNGSLHVDAAFQQTLWSVAP>I<SSGSEAAQGYLIGGDVLRLLHGHMDECLTV	247
RYR3	SSERYLHLSVSNGNIQVDASFMQTLWNVHP>T<CSGSSIEEGYLLGGHVVRLFHGH-DECLTI	236
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I204V	c.610A>G	Putative Benign			SIFT: Polyphen: benign