Paralogue Annotation for RYR1 residue 4028

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4028
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4028

No paralogue variants have been mapped to residue 4028 for RYR1.

RYR1	MMMKLAQDSSQIELLKELLDLQKDMVVMLL>S<LLEGNVVNGMIARQMVDMLVESSSNVEMIL	4058
RYR2	MQMKLSQDSSQIELLKELMDLQKDMVVMLL>S<MLEGNVVNGTIGKQMVDMLVESSNNVEMIL	4014
RYR3	MQMKLSQDSSQIELLKELLDLLQDMVVMLL>S<LLEGNVVNGTIGKQMVDTLVESSTNVEMIL	3910
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S4028L	c.12083C>T	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing. Neuromuscul Disord. 2015 25(8):617-24. doi: 10.1016/j.nmd.2015.03.002. 25987458