Paralogue Annotation for RYR1 residue 2948

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2948
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2948

No paralogue variants have been mapped to residue 2948 for RYR1.

RYR1	RDREKAQELLKFLQMNGYAVTRGLKDMELD>S<SSIEKRFAFGFLQQLLRWMDISQEFIAHLE	2978
RYR2	KDREKAQDILKFLQINGYAVSRGFKDLELD>T<PSIEKRFAYSFLQQLIRYVDEAHQYILEFD	2944
RYR3	KDREKAQDLFKFLQVNGIIVSRGMKDMELD>A<SSMEKRFAYKFLKKILKYVDSAQEFIAHLE	2839
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S2948W	c.8843C>G	Putative Benign			SIFT: Polyphen: