Paralogue Annotation for RYR1 residue 1330

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1330
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1330

No paralogue variants have been mapped to residue 1330 for RYR1.

RYR1	FRCTAGATPLAPPGLQPPAEDEARAAEPDP>D<YENLRRSAGGWSEAENGKEGTAKEGAPGGT	1360
RYR2	FSKTV-AGGLPGAGLFGPK-NDLEDYDADS>D<FEVLMKTAHGHLVPDRVDKDKEATKPEFNN	1372
RYR3	FSH--------------------------->-<------------------------------	1302
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D1330E	c.3990C>G	Putative Benign		rs372518775	SIFT: tolerated Polyphen: benign