Homo sapiens ryanodine receptor 1 (RYR1), RefSeqGene (LRG_766) on chro - Nucleotide

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Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies. [Prenat Diagn. 2024]
Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies.
Jackson M, Thomas MA, Suchet I, Mahallati H, Kuret V, Lauzon J. Prenat Diagn. 2024 Apr; 44(4):522-526. Epub 2024 Mar 23.
A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice. [J Gen Physiol. 2024]
A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice.
Benucci S, Ruiz A, Franchini M, Ruggiero L, Zoppi D, Sitsapesan R, Lindsay C, Pelczar P, Pietrangelo L, Protasi F, et al. J Gen Physiol. 2024 Apr 1; 156(4). Epub 2024 Mar 4.
Successful Correction by Prime Editing of a Mutation in the RYR1 Gene Responsible for a Myopathy. [Cells. 2023]
Successful Correction by Prime Editing of a Mutation in the RYR1 Gene Responsible for a Myopathy.
Godbout K, Rousseau J, Tremblay JP. Cells. 2023 Dec 22; 13(1). Epub 2023 Dec 22.

RefSeq alternative splicing
See 10 reference mRNA sequence splice variants for the RYR1 gene.

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Protein sequence from Nucleotide coding region
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Nucleotide