NM_004181.4(UCHL1):c.279C>G (p.Ile93Met) AND Parkinson disease 5

Clinical significance:risk factor (Last evaluated: Apr 1, 2006)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000013091.28

Allele description [Variation Report for NM_004181.4(UCHL1):c.279C>G (p.Ile93Met)]

NM_004181.4(UCHL1):c.279C>G (p.Ile93Met)

Gene:
UCHL1:ubiquitin C-terminal hydrolase L1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p13
Genomic location:
Preferred name:
NM_004181.4(UCHL1):c.279C>G (p.Ile93Met)
HGVS:
  • NC_000004.12:g.41260751C>G
  • NG_012931.1:g.8871C>G
  • NM_004181.4:c.279C>G
  • NP_004172.2:p.Ile93Met
  • NC_000004.11:g.41262768C>G
  • P09936:p.Ile93Met
Protein change:
I93M; ILE93MET
Links:
UniProtKB: P09936#VAR_015678; OMIM: 191342.0001; dbSNP: 121917767
NCBI 1000 Genomes Browser:
rs121917767
Molecular consequence:
  • NM_004181.4:c.279C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Parkinson disease 5 (PARK5)
Synonyms:
PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
Identifiers:
MedGen: C3150899; Orphanet: 2828; OMIM: 613643
Age of onset:
Adult
Prevalence:
1-5 / 10 000 2828

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000033337OMIMno assertion criteria providedrisk factor
(Apr 1, 2006)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

UCHL-1 is not a Parkinson's disease susceptibility gene.

Healy DG, Abou-Sleiman PM, Casas JP, Ahmadi KR, Lynch T, Gandhi S, Muqit MM, Foltynie T, Barker R, Bhatia KP, Quinn NP, Lees AJ, Gibson JM, Holton JL, Revesz T, Goldstein DB, Wood NW.

Ann Neurol. 2006 Apr;59(4):627-33.

PubMed [citation]
PMID:
16450370

The ubiquitin pathway in Parkinson's disease.

Leroy E, Boyer R, Auburger G, Leube B, Ulm G, Mezey E, Harta G, Brownstein MJ, Jonnalagada S, Chernova T, Dehejia A, Lavedan C, Gasser T, Steinbach PJ, Wilkinson KD, Polymeropoulos MH.

Nature. 1998 Oct 1;395(6701):451-2. No abstract available.

PubMed [citation]
PMID:
9774100

Details of each submission

From OMIM, SCV000033337.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a brother and sister with typical Parkinson disease (PARK5; 613643), Leroy et al. (1998) identified a heterozygous 277C-G transversion in exon 2 of the UCHL1 gene, resulting in an ile93-to-met (I93M) substitution in a highly conserved region. A paternal uncle and the paternal grandfather were also affected, but the father was not affected, indicating incomplete penetrance. The mutation was not found in 500 control chromosomes. In vitro functional expression studies in E. coli showed that the mutant protein had about a 50% reduction in catalytic activity compared to wildtype. Leroy et al. (1998) noted that UCHL1 had been identified as a component of Lewy bodies.

Healy et al. (2006) noted that the findings of Leroy et al. (1998) had never been replicated and thus the association was uncertain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2017