The functional impact of 1,570 individual amino acid substitutions in human OTC.

Lo, Russell S; Cromie, Gareth A; Tang, Michelle; Teng, Kevin; Owens, Katherine; Sirr, Amy; Kutz, J Nathan; Morizono, Hiroki; Caldovic, Ljubica; Ah Mew, Nicholas; Gropman, Andrea; Dudley, Aimée M

Lo, Russell S; Cromie, Gareth A; Tang, Michelle; Teng, Kevin; Owens, Katherine; Sirr, Amy; Kutz, J Nathan; Morizono, Hiroki; Caldovic, Ljubica; Ah Mew, Nicholas; Gropman, Andrea; Dudley, Aimée M.

Affiliation

Lo RS; Pacific Northwest Research Institute, Seattle, WA, USA.
Cromie GA; Pacific Northwest Research Institute, Seattle, WA, USA.
Tang M; Pacific Northwest Research Institute, Seattle, WA, USA.
Teng K; Pacific Northwest Research Institute, Seattle, WA, USA.
Owens K; Pacific Northwest Research Institute, Seattle, WA, USA; Department of Applied Mathematics, University of Washington, Seattle, WA, USA.
Sirr A; Pacific Northwest Research Institute, Seattle, WA, USA.
Kutz JN; Department of Applied Mathematics, University of Washington, Seattle, WA, USA.
Morizono H; Center for Genetic Medicine Research, Children's National Research Institute, Children's National Hospital, Washington, DC, USA; Department of Genomics and Precision Medicine, School of Medicine and Health Sciences, The George Washington University, Washington, DC, USA.
Caldovic L; Center for Genetic Medicine Research, Children's National Research Institute, Children's National Hospital, Washington, DC, USA; Department of Genomics and Precision Medicine, School of Medicine and Health Sciences, The George Washington University, Washington, DC, USA.
Ah Mew N; Center for Genetic Medicine Research, Children's National Research Institute, Children's National Hospital, Washington, DC, USA; Department of Genomics and Precision Medicine, School of Medicine and Health Sciences, The George Washington University, Washington, DC, USA.
Gropman A; Center for Genetic Medicine Research, Children's National Research Institute, Children's National Hospital, Washington, DC, USA; Department of Genomics and Precision Medicine, School of Medicine and Health Sciences, The George Washington University, Washington, DC, USA; Department of Neurology, Divi
Dudley AM; Pacific Northwest Research Institute, Seattle, WA, USA. Electronic address: aimee.dudley@gmail.com.

Am J Hum Genet ; 110(5): 863-879, 2023 05 04.

Article in En | MEDLINE | ID: mdl-37146589

Subject(s)

Hyperammonemia; Ornithine Carbamoyltransferase Deficiency Disease; Ornithine Carbamoyltransferase; Humans; Amino Acid Substitution; Hyperammonemia/etiology; Hyperammonemia/genetics; Mutation, Missense/genetics; Ornithine Carbamoyltransferase/genetics; Ornithine Carbamoyltransferase Deficiency Disease/genetics; Ornithine Carbamoyltransferase Deficiency Disease/diagnosis; Ornithine Carbamoyltransferase Deficiency Disease/therapy

Key words

OTC deficiency; Oxford Nanopore sequencing; SNV analysis/discovery; X-linked disease; metabolic disorder; model organisms; multiplexed assays of variant effect; rare disease; rare variants; urea cycle disorder; variant interpretation

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ornithine Carbamoyltransferase / Ornithine Carbamoyltransferase Deficiency Disease / Hyperammonemia Type of study: Diagnostic_studies / Etiology_studies / Guideline / Prognostic_studies Limits: Humans Language: En Journal: Am J Hum Genet Year: 2023 Document type: Article

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