Paralogue Annotation for RYR1 residue 1020

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1020
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1020

No paralogue variants have been mapped to residue 1020 for RYR1.

RYR1	NGHNVWARDRVGQGWSYSAVQDIPARRNPR>L<VPYRLLDEATKRSNRDSLCQAVRTLLGYGY	1050
RYR2	NAHNVWARDRIRQGWTYGIQQDVKNRRNPR>L<VPYTLLDDRTKKSNKDSLREAVRTLLGYGY	1062
RYR3	NAHNVWAKDRIKQGWTYGIQQDLKNKRNPR>L<VPYALLDERTKKSNRDSLREAVRTFVGYGY	1049
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L1020V	c.3058C>G	Putative Benign			SIFT: Polyphen: