Homo sapiens actinin alpha 2 (ACTN2), RefSeqGene (LRG_436) on chromoso - Nucleotide

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Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy. [Ann Clin Transl Neurol. 2024]
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
Donkervoort S, Mohassel P, O'Leary M, Bonner DE, Hartley T, Acquaye N, Brull A, Mozaffar T, Saporta MA, Dyment DA, et al. Ann Clin Transl Neurol. 2024 Mar; 11(3):629-640. Epub 2024 Feb 4.
Disruption of Z-Disc Function Promotes Mechanical Dysfunction in Human Myocardium: Evidence for a Dual Myofilament Modulatory Role by Alpha-Actinin 2. [Int J Mol Sci. 2023]
Disruption of Z-Disc Function Promotes Mechanical Dysfunction in Human Myocardium: Evidence for a Dual Myofilament Modulatory Role by Alpha-Actinin 2.
Rodriguez Garcia M, Schmeckpeper J, Landim-Vieira M, Coscarella IL, Fang X, Ma W, Spran PA, Yuan S, Qi L, Kahmini AR, et al. Int J Mol Sci. 2023 Sep 26; 24(19). Epub 2023 Sep 26.
Cardiomyopathy-associated variants alter the structure and function of the α-actinin-2 actin-binding domain. [Biochem Biophys Res Commun. 2023]
Cardiomyopathy-associated variants alter the structure and function of the α-actinin-2 actin-binding domain.
Atang AE, Rebbeck RT, Thomas DD, Avery AW. Biochem Biophys Res Commun. 2023 Aug 30; 670:12-18. Epub 2023 May 27.

RefSeq alternative splicing
See 2 reference mRNA sequence splice variants for the ACTN2 gene.

Protein
Protein sequence from Nucleotide coding region
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RNA
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Genome Links for Protein (Select 39930417) (1)
Genome
Mus musculus
Mus musculus

Genome
cytochrome oxidase subunit 1, partial (mitochondrion) [Digamasellidae sp. BIOUG0...
cytochrome oxidase subunit 1, partial (mitochondrion) [Digamasellidae sp. BIOUG08693-A09]
gi|1491962947|gb|AYK97420.1|

Protein
voltage-dependent T-type calcium channel subunit alpha-1G isoform 23 [Homo sapie...
voltage-dependent T-type calcium channel subunit alpha-1G isoform 23 [Homo sapiens]
gi|373838802|ref|NP_001243260.1|

Protein
Abnormal psychotic pattern
Abnormal psychotic pattern

MedGen

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Nucleotide