Paralogue Annotation for RYR1 residue 2598

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2598
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2598

No paralogue variants have been mapped to residue 2598 for RYR1.

RYR1	LFAGTEHRAIMVDSMLHTVYRLSRGRSLTK>A<QRDVIEDCLMSLCRYIRPSMLQHLLRRLVF	2628
RYR2	LFAGTEHHASLIDSLLHTVYRLSKGCSLTK>A<QRDSIEVCLLSICGQLRPSMMQHLLRRLVF	2594
RYR3	LFAGTEHCTSLIDSTLQTIYRLSKGRSLTK>A<QRDTIEECLLAICNHLRPSMLQQLLRRLVF	2491
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A2598T	c.7792G>A	Putative Benign			SIFT: Polyphen:
p.A2598V	c.7793C>T	Putative Benign			SIFT: Polyphen: