Paralogue Annotation for RYR1 residue 4033

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4033
Reference Amino Acid: N - Asparagine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4033

No paralogue variants have been mapped to residue 4033 for RYR1.

RYR1	AQDSSQIELLKELLDLQKDMVVMLLSLLEG>N<VVNGMIARQMVDMLVESSSNVEMILKFFDM	4063
RYR2	SQDSSQIELLKELMDLQKDMVVMLLSMLEG>N<VVNGTIGKQMVDMLVESSNNVEMILKFFDM	4019
RYR3	SQDSSQIELLKELLDLLQDMVVMLLSLLEG>N<VVNGTIGKQMVDTLVESSTNVEMILKFFDM	3915
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N4033T	c.12098A>C	Putative Benign			SIFT: Polyphen: