Paralogue Annotation for RYR1 residue 4023

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4023
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4023

No paralogue variants have been mapped to residue 4023 for RYR1.

RYR1	HVFAHMMMKLAQDSSQIELLKELLDLQKDM>V<VMLLSLLEGNVVNGMIARQMVDMLVESSSN	4053
RYR2	HVFAHMQMKLSQDSSQIELLKELMDLQKDM>V<VMLLSMLEGNVVNGTIGKQMVDMLVESSNN	4009
RYR3	HVFANMQMKLSQDSSQIELLKELLDLLQDM>V<VMLLSLLEGNVVNGTIGKQMVDTLVESSTN	3905
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V4023A	c.12068T>C	Putative Benign			SIFT: Polyphen: