NM_001927.4(DES):c.1034T>C (p.Leu345Pro) AND Myofibrillar myopathy 1

Clinical significance:Pathogenic (Last evaluated: Nov 1, 1999)

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:
RCV000018319.29

Allele description [Variation Report for NM_001927.4(DES):c.1034T>C (p.Leu345Pro)]

NM_001927.4(DES):c.1034T>C (p.Leu345Pro)

Gene:
DES:desmin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001927.4(DES):c.1034T>C (p.Leu345Pro)
HGVS:
  • NC_000002.12:g.219421350T>C
  • NG_008043.1:g.7974T>C
  • NM_001927.4:c.1034T>CMANE SELECT
  • NP_001918.3:p.Leu345Pro
  • LRG_380t1:c.1034T>C
  • LRG_380:g.7974T>C
  • LRG_380p1:p.Leu345Pro
  • NC_000002.11:g.220286072T>C
  • NM_001927.3:c.1034T>C
  • P17661:p.Leu345Pro
Protein change:
L345P; LEU345PRO
Links:
UniProtKB: P17661#VAR_009189; OMIM: 125660.0006; dbSNP: rs57639980
NCBI 1000 Genomes Browser:
rs57639980
Molecular consequence:
  • NM_001927.4:c.1034T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Myofibrillar myopathy 1 (MFM1)
Synonyms:
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED; Desminopathy; Desmin related myopathy (former name); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011076; MedGen: C1832370; Orphanet: 98909; OMIM: 601419

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000038598OMIMno assertion criteria providedPathogenic
(Nov 1, 1999)
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

Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship.

Horowitz SH, Schmalbruch H.

Muscle Nerve. 1994 Feb;17(2):151-60.

PubMed [citation]
PMID:
8114783

A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation.

Sjöberg G, Saavedra-Matiz CA, Rosen DR, Wijsman EM, Borg K, Horowitz SH, Sejersen T.

Hum Mol Genet. 1999 Nov;8(12):2191-8.

PubMed [citation]
PMID:
10545598

Details of each submission

From OMIM, SCV000038598.3

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

Description

In affected members of a large, 6-generation Ashkenazi Jewish family with desmin-related myopathy (MFM1; 601419) reported by Horowitz and Schmalbruch (1994), Sjoberg et al. (1999) identified what they claimed to be the first point mutation in desmin cosegregating with an autosomal dominant form of desmin-related myopathy. The leu345-to-pro mutation (L345P) in this kindred was located in an evolutionarily highly conserved position of the desmin coiled-coil rod domain important for dimer formation. L345P desmin was incapable of forming filamentous networks in transfected HeLa and SW13 cells. Sjoberg et al. (1999) concluded that the L345P mutation causes myopathy by interfering in a dominant-negative manner with the dimerization-polymerization process of intermediate filament assembly.

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

Last Updated: Oct 7, 2021

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