alpha-skeletal actin precursor [Homo sapiens]

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A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy. [Neuromuscul Disord. 2024]
A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy.
Lehtokari VL, Sagath L, Davis M, Ho D, Kiiski K, Kettunen K, Demczko M, Stein R, Vatta M, Winder TL, et al. Neuromuscul Disord. 2024 Jan; 34:32-40. Epub 2023 Nov 30.
Different Mouse Models of Nemaline Myopathy Harboring Acta1 Mutations Display Differing Abnormalities Related to Mitochondrial Biology. [Am J Pathol. 2023]
Different Mouse Models of Nemaline Myopathy Harboring Acta1 Mutations Display Differing Abnormalities Related to Mitochondrial Biology.
Tinklenberg JA, Slick RA, Sutton J, Zhang L, Meng H, Beatka MJ, Vanden Avond M, Prom MJ, Ott E, Montanaro F, et al. Am J Pathol. 2023 Oct; 193(10):1548-1567. Epub 2023 Jul 5.
Novel p.Asp27Glu ACTA1 variant features congenital myopathy with finger flexor weakness, cardiomyopathy, and cardiac conduction defects. [Neuromuscul Disord. 2023]
Novel p.Asp27Glu ACTA1 variant features congenital myopathy with finger flexor weakness, cardiomyopathy, and cardiac conduction defects.
Mulvany-Robbins B, Putko B, Schmitt L, Oudit G, Phan C, Beecher G. Neuromuscul Disord. 2023 Jul; 33(7):546-550. Epub 2023 May 30.

RefSeq genomic sequence
See the genomic reference sequence for the ACTA1 gene (NG_006672.1).
RefSeq protein
See the reference protein sequence for actin, alpha skeletal muscle (NP_001091.1).

Nucleotide
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Related structures

MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

alpha-skeletal actin precursor [Homo sapiens]
alpha-skeletal actin precursor [Homo sapiens]
gi|337746|gb|AAA60296.1|

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