NM_000285.4(PEPD):c.826G>A (p.Asp276Asn) AND Prolidase deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 1, 1990
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000000232.3

Allele description [Variation Report for NM_000285.4(PEPD):c.826G>A (p.Asp276Asn)]

NM_000285.4(PEPD):c.826G>A (p.Asp276Asn)

Gene:

PEPD:peptidase D [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.11

Genomic location:

Preferred name:

NM_000285.4(PEPD):c.826G>A (p.Asp276Asn)

HGVS:

NC_000019.10:g.33401862C>T
NG_013358.2:g.125032G>A
NM_000285.4:c.826G>AMANE SELECT
NM_001166056.2:c.703G>A
NM_001166057.2:c.634G>A
NP_000276.2:p.Asp276Asn
NP_001159528.1:p.Asp235Asn
NP_001159529.1:p.Asp212Asn
NC_000019.9:g.33892768C>T
NG_013358.1:g.125032G>A
NM_000285.3:c.826G>A
P12955:p.Asp276Asn

Protein change:

D212N; ASP276ASN

Links:

UniProtKB: P12955#VAR_004404; OMIM: 613230.0001; dbSNP: rs121917721

NCBI 1000 Genomes Browser:

rs121917721

Molecular consequence:

NM_000285.4:c.826G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001166056.2:c.703G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001166057.2:c.634G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Prolidase deficiency
Identifiers:: MONDO: MONDO:0008221; MedGen: C0268532; Orphanet: 742; OMIM: 170100

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ras-related protein Rab-26 [Mus musculus]
ras-related protein Rab-26 [Mus musculus]
gi|254939698|ref|NP_796349.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000020376	OMIM	no assertion criteria provided	Pathogenic (Jul 1, 1990)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000020376

OMIM

no assertion criteria provided

Pathogenic
(Jul 1, 1990)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency. Expression of the mutant enzyme in NIH 3T3 cells.

Tanoue A, Endo F, Kitano A, Matsuda I.

J Clin Invest. 1990 Jul;86(1):351-5.

PubMed [citation]

PMID:: 2365824
PMCID:: PMC296729

Details of each submission

From OMIM, SCV000020376.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 2 unrelated patients with polypeptide-positive (CRM-positive) prolidase deficiency (170100), Tanoue et al. (1990) demonstrated a G-to-A substitution at nucleotide 826 in exon 12 of the PEPD gene, resulting in replacement of aspartic acid by asparagine at amino acid residue 276 (D276N). Both patients were homozygous for this mutation.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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