Paralogue Annotation for RYR1 residue 1413

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1413
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1413

No paralogue variants have been mapped to residue 1413 for RYR1.

RYR1	NKKRGFLFKAKKVAMMTQPPATPTLPRLPH>D<VVPADNRDDPEIILNTTTYYYSVRVFAGQE	1443
RYR2	P-SR--LKQRFLLRRTKPDYSTSHSARLTE>D<VLADDRDDYDFLMQT-STYYYSVRIFPGQE	1437
RYR3	------------------------SPCLDS>E<AFQKRKQMQEILSHTTTQCYYAIRIFAGQD	1339
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D1413N	c.4237G>A	Putative Benign		rs139142846	SIFT: Polyphen: possibly damaging