Paralogue Annotation for RYR1 residue 1417

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1417
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1417

No paralogue variants have been mapped to residue 1417 for RYR1.

RYR1	GFLFKAKKVAMMTQPPATPTLPRLPHDVVP>A<DNRDDPEIILNTTTYYYSVRVFAGQEPSCV	1447
RYR2	--LKQRFLLRRTKPDYSTSHSARLTEDVLA>D<DRDDYDFLMQT-STYYYSVRIFPGQEPANV	1441
RYR3	--------------------SPCLDSEAFQ>K<RKQMQEILSHTTTQCYYAIRIFAGQDPSCV	1343
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A1417V	c.4250C>T	Putative Benign			SIFT: Polyphen: