Paralogue Annotation for RYR1 residue 2938

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2938
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2938

No paralogue variants have been mapped to residue 2938 for RYR1.

RYR1	YDTLTAKEKARDREKAQELLKFLQMNGYAV>T<RGLKDMELDSSSIEKRFAFGFLQQLLRWMD	2968
RYR2	YDTLTAKEKAKDREKAQDILKFLQINGYAV>S<RGFKDLELDTPSIEKRFAYSFLQQLIRYVD	2934
RYR3	YDTLTAKEKFKDREKAQDLFKFLQVNGIIV>S<RGMKDMELDASSMEKRFAYKFLKKILKYVD	2829
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T2938I	c.8813C>T	Putative Benign		rs376494159	SIFT: tolerated Polyphen: benign