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NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu) AND MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 2001
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:
RCV000004441.4

Allele description

NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu)

Gene:
FKRP:fukutin related protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.32
Genomic location:
Preferred name:
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu)
HGVS:
  • NC_000019.10:g.46756793C>T
  • NG_008898.2:g.15748C>T
  • NM_001039885.3:c.1343C>T
  • NM_024301.5:c.1343C>TMANE SELECT
  • NP_001034974.1:p.Pro448Leu
  • NP_077277.1:p.Pro448Leu
  • LRG_761t1:c.1343C>T
  • LRG_761:g.15748C>T
  • LRG_761p1:p.Pro448Leu
  • NC_000019.9:g.47260050C>T
  • NM_024301.4:c.1343C>T
  • Q9H9S5:p.Pro448Leu
Protein change:
P448L; PRO448LEU
Links:
UniProtKB: Q9H9S5#VAR_018294; OMIM: 606596.0003; dbSNP: rs104894681
NCBI 1000 Genomes Browser:
rs104894681
Molecular consequence:
  • NM_001039885.3:c.1343C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024301.5:c.1343C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000024614OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 2001) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, Ponting CP, Estournet B, Romero NB, Mercuri E, Voit T, Sewry CA, Guicheney P, Muntoni F.

Am J Hum Genet. 2001 Dec;69(6):1198-209. Epub 2001 Oct 8.

PubMed [citation]
PMID:
11592034
PMCID:
PMC1235559

Details of each submission

From OMIM, SCV000024614.3

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

Description

In a consanguineous family from Libya with a severe form of congenital muscular dystrophy (MDDGB5; 606612), Brockington et al. (2001) found that the 1 affected child was homozygous for a pro448-to-leu (P448L) missense mutation in the FKRP gene. The patient presented in the first few weeks of life with hypotonia and feeding difficulties, followed by motor delay. On examination at age 16 months, she could not walk and was weaker in her arms than in her legs. She had calf hypertrophy and facial weakness. Serum creatine kinase was very high, and she had a myopathic EMG. Her intelligence was normal.

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

Last Updated: Apr 23, 2022