PEPD Chromosome 19

Peptidase D
87 variants 87 Health Risk

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What This Gene Does
This gene encodes a member of the peptidase family. The protein forms a homodimer that hydrolyzes dipeptides or tripeptides with C-terminal proline or hydroxyproline residues. The enzyme serves an important role in the recycling of proline, and may be rate limiting for the production of collagen. Mutations in this gene result in prolidase deficiency, which is characterized by the excretion of large amount of di- and tri-peptides containing proline. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
Gene Info
Gene Group
M24 metallopeptidase family
Locus Type
gene with protein product
Location
19q13.11
Ensembl
ENSG00000124299
Associated Conditions (9)
Prolidase deficiency
PEPD-related disorder
Inborn genetic diseases
Thyroid cancer
nonmedullary
1
Melanoma
Nonpapillary renal cell carcinoma
Megaconial type congenital muscular dystrophy
Key Variants
RS1568445341
Conflicting classifications of pathogenicity
Health Risk
RS200435937
Conflicting classifications of pathogenicity
Prolidase deficiency, Prolidase deficiency
Health Risk
RS200931112
Conflicting classifications of pathogenicity
Health Risk
RS201865747
Conflicting classifications of pathogenicity
Prolidase deficiency, Prolidase deficiency
Health Risk
RS369197590
Conflicting classifications of pathogenicity
Prolidase deficiency, Prolidase deficiency
Health Risk
RS370100218
Conflicting classifications of pathogenicity
Prolidase deficiency, Prolidase deficiency
Health Risk
RS370105932
Conflicting classifications of pathogenicity
Prolidase deficiency, PEPD-related disorder, Prolidase deficiency
Health Risk
RS370219399
Conflicting classifications of pathogenicity
Prolidase deficiency, Prolidase deficiency
Health Risk
RS371699300
Conflicting classifications of pathogenicity
Prolidase deficiency, Prolidase deficiency
Health Risk
RS372949783
Conflicting classifications of pathogenicity
Prolidase deficiency, Prolidase deficiency
Health Risk
RS373639982
Conflicting classifications of pathogenicity
Prolidase deficiency, Prolidase deficiency
Health Risk
RS374919986
Conflicting classifications of pathogenicity
Prolidase deficiency, Prolidase deficiency
Health Risk
All Variants (87)
RSID Category Clinical Significance Conditions
RS1568445341 Health Risk Conflicting classifications of pathogenicity —
RS200435937 Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS200931112 Health Risk Conflicting classifications of pathogenicity —
RS201865747 Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS369197590 Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS370100218 Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS370105932 Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, PEPD-related disorder, Prolidase deficiency
RS370219399 Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS371699300 Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS372949783 Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS373639982 Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS374919986 Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS375023206 Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS375401743 Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS375631938 Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS376016676 Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS538519269 Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS555350937 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS568774163 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746307467 Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS752440638 Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS756414069 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758357853 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761553925 Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS763346457 Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS765974570 Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Inborn genetic diseases, Prolidase deficiency
RS770898814 Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS780889402 Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS781570190 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS886054335 Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS886054336 Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS1273049043 Health Risk Likely pathogenic —
RS1305209476 Health Risk Likely pathogenic Prolidase deficiency, Prolidase deficiency
RS1343296636 Health Risk Likely pathogenic —
RS1451144161 Health Risk Likely pathogenic —
RS1600069637 Health Risk Likely pathogenic —
RS1600096061 Health Risk Likely pathogenic —
RS1969956193 Health Risk Likely pathogenic —
RS2145335406 Health Risk Likely pathogenic —
RS2513380789 Health Risk Likely pathogenic —
RS2513410026 Health Risk Likely pathogenic PEPD-related disorder, PEPD-related disorder
RS2513410277 Health Risk Likely pathogenic —
RS2513493190 Health Risk Likely pathogenic —
RS2513496574 Health Risk Likely pathogenic —
RS2513508732 Health Risk Likely pathogenic —
RS2513508907 Health Risk Likely pathogenic Thyroid cancer, nonmedullary, 1
RS575962845 Health Risk Likely pathogenic —
RS1204749077 Health Risk Pathogenic Prolidase deficiency, Prolidase deficiency, Prolidase deficiency
RS121917721 Health Risk Pathogenic Prolidase deficiency, Prolidase deficiency
RS121917722 Health Risk Pathogenic Prolidase deficiency, Melanoma, Prolidase deficiency
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