NM_016335.6(PRODH):c.1561C>G (p.Arg521Gly) AND Proline dehydrogenase deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 2005
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:: RCV000004226.5

Allele description [Variation Report for NM_016335.6(PRODH):c.1561C>G (p.Arg521Gly)]

NM_016335.6(PRODH):c.1561C>G (p.Arg521Gly)

Gene:

PRODH:proline dehydrogenase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.21

Genomic location:

Preferred name:

NM_016335.6(PRODH):c.1561C>G (p.Arg521Gly)

Other names:

Q521E

HGVS:

NC_000022.11:g.18913492G>C
NG_008226.2:g.28062C>G
NG_008226.3:g.28062C>G
NG_009052.1:g.12270G>C
NM_001195226.2:c.1237C>G
NM_016335.6:c.1561C>GMANE SELECT
NP_001182155.2:p.Arg413Gly
NP_057419.5:p.Arg521Gly
NC_000022.10:g.18901005G>C

Protein change:

R413G; GLN521GLU

Links:

OMIM: 606810.0008; dbSNP: rs193919334

NCBI 1000 Genomes Browser:

rs193919334

Molecular consequence:

NM_001195226.2:c.1237C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_016335.6:c.1561C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Proline dehydrogenase deficiency (HYRPRO1)
Synonyms:: PROLINE OXIDASE DEFICIENCY; Hyperprolinemia type 1
Identifiers:: MONDO: MONDO:0009400; MedGen: C0268529; Orphanet: 419; OMIM: 239500

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000024392	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 2005)	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

SCV000024392

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 2005)

germline

literature only

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

Help

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

Functional consequences of PRODH missense mutations.

Bender HU, Almashanu S, Steel G, Hu CA, Lin WW, Willis A, Pulver A, Valle D.

Am J Hum Genet. 2005 Mar;76(3):409-20. Epub 2005 Jan 20.

PubMed [citation]

PMID:: 15662599
PMCID:: PMC1196393

Details of each submission

From OMIM, SCV000024392.4

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

Description

Bender et al. (2005) found that the gln521-to-glu (Q521E) missense mutation found in patients with hyperprolinemia type I (HYRPRO1; 239500) is associated with severe (greater than 70%) reduction in POX activity. Noteworthy was the fact that a missense change in the same codon, Q521R (606810.0006), resulted in increased activity (120% of wildtype).

Bender et al. (2005) found that the Q521E mutation was associated with a severe (more than 70%) reduction in PRODH activity.

#	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: Apr 23, 2022

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