Paralogue Annotation for RYR1 residue 1372

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1372
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1372

No paralogue variants have been mapped to residue 1372 for RYR1.

RYR1	SEAENGKEGTAKEGAPGGTPQAGGEAQPAR>A<ENEKDATTEKNKKRGFLFKAKKVAMMTQPP	1402
RYR2	LVPDRVDKDKEATKPEFNNHK--------->-<----DYAQEKP-SR--LKQRFLLRRTKPDY	1397
RYR3	------------------------------>-<------------------------------
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A1372V	c.4115C>T	Putative Benign		rs370966353	SIFT: tolerated Polyphen: benign