Paralogue Annotation for RYR1 residue 3012

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3012
Reference Amino Acid: N - Asparagine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3012

No paralogue variants have been mapped to residue 3012 for RYR1.

RYR1	SSGRVEKSPHEQEIKFFAKILLPLINQYFT>N<HCLYFLSTPAKVLGSGGHASNKEKEMITSL	3042
RYR2	SRGKGEHFPYEQEIKFFAKVVLPLIDQYFK>N<HRLYFLSAASRPLCSGGHASNKEKEMVTSL	3007
RYR3	SSGKTEKSPRDQEIKFFAKVLLPLVDQYFT>S<HCLYFLSSPLKPLSSSGYASHKEKEMVAGL	2903
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N3012S	c.9035A>G	Putative Benign			SIFT: Polyphen: