ACTA1, partial [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.
Morphological and functional alterations of neuromuscular synapses in a mouse model of ACTA1 congenital myopathy. [Hum Mol Genet. 2024]
Morphological and functional alterations of neuromuscular synapses in a mouse model of ACTA1 congenital myopathy.
Liu Y, Lin W. Hum Mol Genet. 2024 Jan 20; 33(3):233-244.
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.

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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BioSystems
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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

ACTA1, partial [Homo sapiens]
ACTA1, partial [Homo sapiens]
gi|49456549|emb|CAG46595.1|

Protein
PREDICTED: Homo sapiens cilia and flagella associated protein 46 (CFAP46), trans...
PREDICTED: Homo sapiens cilia and flagella associated protein 46 (CFAP46), transcript variant X2, mRNA
gi|2217277658|ref|XM_047425387.1|

Nucleotide
Homologene neighbors for GEO Profiles (Select 125848694) (0)
GEO Profiles
Homologene neighbors for GEO Profiles (Select 125858176) (0)
GEO Profiles
Profile neighbors for GEO Profiles (Select 125818562) (199)
GEO Profiles

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Protein