Paralogue Annotation for RYR1 residue 1104

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1104
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1104

No paralogue variants have been mapped to residue 1104 for RYR1.

RYR1	FRAEKSYTVQSGRWYFEFEAVTTGEMRVGW>A<RPELRPDVELGADELAYVFNGHRGQRWHLG	1134
RYR2	FRAEKTYAVKAGRWYFEFETVTAGDMRVGW>S<RPGCQPDQELGSDERAFAFDGFKAQRWHQG	1148
RYR3	FRVERSYAVRSGKWYFEFEVVTGGDMRVGW>A<RPGCRPDVELGADDQAFVFEGNRGQRWHQG	1134
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A1104V	c.3311C>T	Putative Benign		rs149096607	SIFT: Polyphen: possibly damaging
p.A1104G	c.3311C>G	Putative Benign			SIFT: Polyphen: