Paralogue Annotation for RYR1 residue 4053

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4053
Reference Amino Acid: N - Asparagine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4053

No paralogue variants have been mapped to residue 4053 for RYR1.

RYR1	VVMLLSLLEGNVVNGMIARQMVDMLVESSS>N<VEMILKFFDMFLKLKDIVGSEAFQDYVTDP	4083
RYR2	VVMLLSMLEGNVVNGTIGKQMVDMLVESSN>N<VEMILKFFDMFLKLKDLTSSDTFKEYDPDG	4039
RYR3	VVMLLSLLEGNVVNGTIGKQMVDTLVESST>N<VEMILKFFDMFLKLKDLTSSDTFKEYDPDG	3935
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N4053S	c.12158A>G	Putative Benign			SIFT: tolerated Polyphen: benign
p.N4053T	c.12158A>C	Putative Benign			SIFT: Polyphen: