Paralogue Annotation for RYR1 residue 4040

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4040
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4040

No paralogue variants have been mapped to residue 4040 for RYR1.

RYR1	ELLKELLDLQKDMVVMLLSLLEGNVVNGMI>A<RQMVDMLVESSSNVEMILKFFDMFLKLKDI	4070
RYR2	ELLKELMDLQKDMVVMLLSMLEGNVVNGTI>G<KQMVDMLVESSNNVEMILKFFDMFLKLKDL	4026
RYR3	ELLKELLDLLQDMVVMLLSLLEGNVVNGTI>G<KQMVDTLVESSTNVEMILKFFDMFLKLKDL	3922
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A4040T	c.12118G>A	Putative Benign		rs374441925	SIFT: deleterious Polyphen: benign