OMIM: 237300Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | CPS1 |
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| Dna Change: | c.3037_3039delGTG |
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| Protein Change: | p.Val1013del |
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| Mutation Type: | Deletion |
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| Mutation Effect: | In-frame deletion |
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| Location: | exon 26 |
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| Transcript: | NM_001122633.2 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Turkey | NA | NA | 11 patients/ 11 unrelated families | NA | Hu L et al., 2014Hu L, Diez-Fernandez C, Rüfenacht V, Hismi BÖ, Ünal Ö, Soyucen E, Çoker M, Bayraktar BT, Gunduz M, Kiykim E, Olgac A, Pérez-Tur J, Rubio V, Häberle J, . Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: characterization of a founder mutation by use of recombinant CPS1 from insect cells expression.. Mol. Genet. Metab.. 2014; 113(4):267-73 |
References
Hu L, Diez-Fernandez C, Rüfenacht V, Hismi BÖ, Ünal Ö, Soyucen E, Çoker M, Bayraktar BT, Gunduz M, Kiykim E, Olgac A, Pérez-Tur J, Rubio V, Häberle J, Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: characterization of a founder mutation by use of recombinant CPS1 from insect cells expression.Mol. Genet. Metab.. 2014; 113(4):267-73