RecName: Full=Adenylosuccinate synthetase isozyme 1; Short=AMPSase 1; - Protein

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ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features. [Neurology. 2020]
ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features.
Saito Y, Nishikawa A, Iida A, Mori-Yoshimura M, Oya Y, Ishiyama A, Komaki H, Nakamura S, Fujikawa S, Kanda T, et al. Neurology. 2020 Sep 15; 95(11):e1500-e1511. Epub 2020 Jul 9.
Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients. [Neuromuscul Disord. 2020]
Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients.
Mroczek M, Durmus H, Bijarnia-Mahay S, Töpf A, Ghaoui R, Bryen S, Duff J, England E, Cooper ST, MacArthur DG, et al. Neuromuscul Disord. 2020 Apr; 30(4):310-314. Epub 2020 Feb 14.
Distal myopathy with ADSSL1 mutations in Korean patients. [Neuromuscul Disord. 2017]
Distal myopathy with ADSSL1 mutations in Korean patients.
Park HJ, Shin HY, Kim S, Kim SH, Lee Y, Lee JH, Hong JM, Kim SM, Park KD, Choi BO, et al. Neuromuscul Disord. 2017 May; 27(5):465-472. Epub 2017 Feb 14.

RefSeq genomic sequence
See the genomic reference sequence for the ADSS1 gene (NG_051175.1).
RefSeq protein isoforms
See 11 reference sequence protein isoforms for the ADSS1 gene.

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Q8N142 [Domain Mapping of Disease Mut...]
Q8N142
Domain Mapping of Disease Mutations
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
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RecName: Full=Adenylosuccinate synthetase isozyme 1; Short=AMPSase 1; Short=AdSS...
RecName: Full=Adenylosuccinate synthetase isozyme 1; Short=AMPSase 1; Short=AdSS 1; AltName: Full=Adenylosuccinate synthetase, basic isozyme; AltName: Full=Adenylosuccinate synthetase, muscle isozyme; Short=M-type adenylosuccinate synthetase; AltName: Full=Adenylosuccinate synthetase-like 1; Short=AdSSL1; AltName: Full=IMP--aspartate ligase 1
gi|37537958|sp|Q8N142.1|PURA1_HUMAN

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