Paralogue Annotation for RYR1 residue 2602

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2602
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2602

No paralogue variants have been mapped to residue 2602 for RYR1.

RYR1	TEHRAIMVDSMLHTVYRLSRGRSLTKAQRD>V<IEDCLMSLCRYIRPSMLQHLLRRLVFDVPI	2632
RYR2	TEHHASLIDSLLHTVYRLSKGCSLTKAQRD>S<IEVCLLSICGQLRPSMMQHLLRRLVFDVPL	2598
RYR3	TEHCTSLIDSTLQTIYRLSKGRSLTKAQRD>T<IEECLLAICNHLRPSMLQQLLRRLVFDVPQ	2495
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V2602I	c.7804G>A	Putative Benign			SIFT: Polyphen: