Paralogue Annotation for RYR1 residue 2415

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2415
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2415

No paralogue variants have been mapped to residue 2415 for RYR1.

RYR1	RISEDPARDGPGIRRDRRREHFGEEPPEEN>R<VHLGHAIMSFYAALIDLLGRCAPEMHLIQA	2445
RYR2	KIAEDPSRDGPSPNS-GSSKTLDTEEEEDD>T<IHMGNAIMTFYSALIDLLGRCAPEMHLIHA	2411
RYR3	KISENPALDLPSQGY-KREVSTGDDEEEEE>I<VHMGNAIMSFYSALIDLLGRCAPEMHLIQT	2308
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2415Q	c.7244G>A	Putative Benign		rs201584482	SIFT: Polyphen: benign
p.R2415W	c.7243C>T	Putative Benign		rs368013861	SIFT: tolerated Polyphen: possibly damaging
p.R2415G	c.7243C>G	Putative Benign			SIFT: Polyphen: