Paralogue Annotation for RYR1 residue 229

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 229
Reference Amino Acid: C - Cysteine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 229

No paralogue variants have been mapped to residue 229 for RYR1.

RYR1	MNPICSR--CEEGFVTGGHVLRLFHGHMDE>C<LTISPAD-SDDQRRLVYYEGGAVCTHARSL	258
RYR2	VAPISSGSEAAQGYLIGGDVLRLLHGHMDE>C<LTVPSGEHGEEQRRTVHYEGGAVSVHARSL	274
RYR3	VHPTCSGSSIEEGYLLGGHVVRLFHGH-DE>C<LTIPSTDQNDSQHRRIFYEAGGAGTRARSL	263
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.C229Y	c.686G>A	Putative Benign			SIFT: Polyphen: