Paralogue Annotation for RYR1 residue 3711

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3711
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3711

No paralogue variants have been mapped to residue 3711 for RYR1.

RYR1	GEQEEEEEEVEEKKPDPLHQLVLHFSRTAL>T<EKSKLDEDYLYMAYADIMAKSCHLEEGGEN	3741
RYR2	G-AEPPEEDEGTKRVDPLHQLILLFSRTAL>T<EKCKLEEDFLYMAYADIMAKSCHDEED-D-	3705
RYR3	PKVEEEEEEETEKQPDPLHQIILYFSRNAL>T<ERSKLEDDPLYTSYSSMMAKSCQSGED-E-	3594
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T3711M	c.11132C>T	Putative Benign		rs375915752	SIFT: tolerated Polyphen: possibly damaging
p.T3711R	c.11132C>G	Putative Benign			SIFT: Polyphen: