Paralogue Annotation for RYR1 residue 4020

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4020
Reference Amino Acid: K - Lysine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4020

No paralogue variants have been mapped to residue 4020 for RYR1.

RYR1	GFLHVFAHMMMKLAQDSSQIELLKELLDLQ>K<DMVVMLLSLLEGNVVNGMIARQMVDMLVES	4050
RYR2	GFLHVFAHMQMKLSQDSSQIELLKELMDLQ>K<DMVVMLLSMLEGNVVNGTIGKQMVDMLVES	4006
RYR3	GFLHVFANMQMKLSQDSSQIELLKELLDLL>Q<DMVVMLLSLLEGNVVNGTIGKQMVDTLVES	3902
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K4020N	c.12060G>T	Putative Benign			SIFT: Polyphen: