NA20942
DNA from Fibroblast
Description:
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
PHOSPHOMANNOMUTASE 2; PMM2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
4.6 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| phosphomannomutase |
According to the submitter biochemical test results for this subject showed decreased enzyme activity. EC Number: 5.4.2.8; 10% activity. |
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| Gene |
PMM2 |
| Chromosomal Location |
16p13.3-p13.2 |
| Allelic Variant 1 |
601785.0001; CONGENITAL DISORDER OF GYLCOSYLATION, TYPE Ia |
| Identified Mutation |
ARG141HIS; In a family in Sicily in which linkage studies indicated mapping of CDG1 to 16p13, Matthijs et al. (Nature Genet 16:88-92, 1997) found that affected individuals were compound heterozygotes for a 425G-A transition (R141H) and a 647A-T transversion (N216I; 601785.0002) in the PMM2 gene.
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| Gene |
PMM2 |
| Chromosomal Location |
16p13.3-p13.2 |
| Allelic Variant 2 |
601785.0006; CONGENITAL DISORDER OF GYLCOSYLATION, TYPE Ia |
| Identified Mutation |
PHE119LEU; In a mutation screening of 56 patients with carbohydrate-deficient glycoprotein syndrome, type Ia, Matthijs et al. (Am J Hum Genet 62:542-550, 1998) identified 18 occurrences of a phe119-to-leu (F119L) mutation, which resulted from a C-to-A transversion at nucleotide 357.
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| Remarks |
Clinically affected; abnormal isoelectric focusing of transferrin; phosphomannomutase activity = 0.4 nM/min/mg (normal = 4.2 nM/min/mg); donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 425 in exon 5 of the PMM2 gene [425G>A] resulting in a substitution of histidine for arginine at codon 141 [Arg141His (R141H)] and a second allele has a C>A transversion at nucleotide 357 in exon 5 of the PMM2 gene [357C>A] resulting in a substitution of leucine for phenylalanine at codon 119 [Phe119Leu (F119L)].
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