Paralogue Annotation for RYR1 residue 2538

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2538
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2538

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR2	T2504M	Arrhythmogenic right ventricular dysplasia type 2	High	9	11159936, 16239587, 22374134, 24025405, 24978818

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	RVYGIENQDFLLHVLDVGFLPDMRAAASLD>T<ATFSTTEMALALNRYLCLAVLPLITKCAPL	2568
RYR2	RVYGIEVQDFLLHLLEVGFLPDLRAAASLD>T<AALSATDMALALNRYLCTAVLPLLTRCAPL	2534
RYR3	RVYGIKDQTFLLHLLEVGFLPDLRASASLD>T<VSLSTTEAALALNRYICSAVLPLLTRCAPL	2431
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T2538M	c.7613C>T	Putative Benign			SIFT: deleterious Polyphen: benign