Paralogue Annotation for RYR1 residue 2580

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2580
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2580

No paralogue variants have been mapped to residue 2580 for RYR1.

RYR1	LNRYLCLAVLPLITKCAPLFAGTEHRAIMV>D<SMLHTVYRLSRGRSLTKAQRDVIEDCLMSL	2610
RYR2	LNRYLCTAVLPLLTRCAPLFAGTEHHASLI>D<SLLHTVYRLSKGCSLTKAQRDSIEVCLLSI	2576
RYR3	LNRYICSAVLPLLTRCAPLFAGTEHCTSLI>D<STLQTIYRLSKGRSLTKAQRDTIEECLLAI	2473
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D2580N	c.7738G>A	Putative Benign			SIFT: Polyphen: