Paralogue Annotation for RYR1 residue 3448

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3448
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3448

No paralogue variants have been mapped to residue 3448 for RYR1.

RYR1	NNRAQWLTEPNPSAEELFRMVGEIFIYWSK>S<HNFKREEQNFVVQNEINNMSFLTADNKSKM	3478
RYR2	YNRAKWLKEPNPEAEELFRMVAEVFIYWSK>S<HNFKREEQNFVVQNEINNMSFLITDTKSKM	3439
RYR3	NNRSNWLKSPDADSDQLFRMVAEVFILWCK>S<HNFKREEQNFVIQNEINNLAFLTGDSKSKM	3335
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S3448F	c.10343C>T	Other Myopathy		rs193922836	SIFT: Polyphen:
Reports		Other Myopathy		Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. Neurology. 2005 65(12):1930-5. 16380615