Paralogue Annotation for RYR1 residue 2612

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2612
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2612

No paralogue variants have been mapped to residue 2612 for RYR1.

RYR1	MLHTVYRLSRGRSLTKAQRDVIEDCLMSLC>R<YIRPSMLQHLLRRLVFDVPILNEFAKMPLK	2642
RYR2	LLHTVYRLSKGCSLTKAQRDSIEVCLLSIC>G<QLRPSMMQHLLRRLVFDVPLLNEHAKMPLK	2608
RYR3	TLQTIYRLSKGRSLTKAQRDTIEECLLAIC>N<HLRPSMLQQLLRRLVFDVPQLNEYCKMPLK	2505
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2612K	c.7835G>A	Putative Benign			SIFT: Polyphen:
p.R2612S	c.7836G>T	Putative Benign			SIFT: Polyphen: