Paralogue Annotation for RYR1 residue 4338

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4338
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4338

No paralogue variants have been mapped to residue 4338 for RYR1.

RYR1	LSYRSLRRRVRRLRRLTAREAATAVAALLW>A<AVTRAGAAGAGAAAGALGLLWGSLFGGGLV	4368
RYR2	LSLKSLKKQMKKVKKMTVKDMVTAFFSSYW>S<IFMTLLHFVASVFRGFFRIICSLLLGGSLV	4319
RYR3	ATLKNLRKQYRNVKKMTAKELVKVLFSFFW>M<LFVGLFQLLFTILGGIFQILWSTVFGGGLV	4220
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A4338E	c.13013C>A	Putative Benign			SIFT: Polyphen: