Paralogue Annotation for RYR1 residue 4331

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4331
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4331

No paralogue variants have been mapped to residue 4331 for RYR1.

RYR1	AGRALRGLSYRSLRRRVRRLRRLTAREAAT>A<VAALLWAAVTRAGAAGAGAAAGALGLLWGS	4361
RYR2	ILTLMRMLSLKSLKKQMKKVKKMTVKDMVT>A<FFSSYWSIFMTLLHFVASVFRGFFRIICSL	4312
RYR3	VTDFLKRATLKNLRKQYRNVKKMTAKELVK>V<LFSFFWMLFVGLFQLLFTILGGIFQILWST	4213
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A4331T	c.12991G>A	Other Disease Phenotype			SIFT: Polyphen:
Reports		Other Disease Phenotype		Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness. Anesthesiology. 2015 122(5):1033-46. doi: 10.1097/ALN.0000000000000610. 25658027