NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg) AND MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1

Clinical significance:Pathogenic (Last evaluated: May 26, 2009)

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:
RCV000003400.6

Allele description [Variation Report for NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg)]

NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg)

Gene:
POMT1:protein O-mannosyltransferase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.13
Genomic location:
Preferred name:
NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg)
HGVS:
  • NC_000009.12:g.131506184G>A
  • NG_008896.1:g.8283G>A
  • NM_001077365.2:c.193G>AMANE SELECT
  • NM_001077366.2:c.31G>A
  • NM_001136113.2:c.193G>A
  • NM_001136114.2:c.-122-219G>A
  • NM_001353193.2:c.193G>A
  • NM_001353194.2:c.31G>A
  • NM_001353195.2:c.-122-219G>A
  • NM_001353196.2:c.123-219G>A
  • NM_001353197.2:c.31G>A
  • NM_001353198.2:c.31G>A
  • NM_001353199.2:c.-122-219G>A
  • NM_001353200.2:c.-80-219G>A
  • NM_001374689.1:c.31G>A
  • NM_001374690.1:c.193G>A
  • NM_001374691.1:c.-71-1184G>A
  • NM_001374692.1:c.-71-1184G>A
  • NM_001374693.1:c.31G>A
  • NM_001374695.1:c.-30+1844G>A
  • NM_007171.4:c.193G>A
  • NP_001070833.1:p.Gly65Arg
  • NP_001070834.1:p.Gly11Arg
  • NP_001129585.1:p.Gly65Arg
  • NP_001340122.2:p.Gly65Arg
  • NP_001340123.1:p.Gly11Arg
  • NP_001340126.2:p.Gly11Arg
  • NP_001340127.2:p.Gly11Arg
  • NP_001361618.1:p.Gly11Arg
  • NP_001361619.1:p.Gly65Arg
  • NP_001361622.1:p.Gly11Arg
  • NP_009102.4:p.Gly65Arg
  • LRG_842t1:c.193G>A
  • LRG_842t2:c.193G>A
  • LRG_842p1:p.Gly65Arg
  • LRG_842p2:p.Gly65Arg
  • NC_000009.11:g.134381571G>A
  • NR_148391.2:n.227G>A
  • NR_148392.2:n.379G>A
  • NR_148393.2:n.227G>A
  • NR_148394.2:n.227G>A
  • NR_148395.2:n.379G>A
  • NR_148398.2:n.227G>A
  • NR_148399.2:n.619G>A
  • Q9Y6A1:p.Gly65Arg
Protein change:
G11R; GLY65ARG
Links:
UniProtKB: Q9Y6A1#VAR_065027; OMIM: 607423.0006; OMIM: 607423.0010; dbSNP: rs119462983
NCBI 1000 Genomes Browser:
rs119462983
Molecular consequence:
  • NM_001136114.2:c.-122-219G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353195.2:c.-122-219G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353196.2:c.123-219G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353199.2:c.-122-219G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001353200.2:c.-80-219G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374691.1:c.-71-1184G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374692.1:c.-71-1184G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374695.1:c.-30+1844G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001077365.2:c.193G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077366.2:c.31G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001136113.2:c.193G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353193.2:c.193G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353194.2:c.31G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353197.2:c.31G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353198.2:c.31G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374689.1:c.31G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374690.1:c.193G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374693.1:c.31G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007171.4:c.193G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148391.2:n.227G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148392.2:n.379G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148393.2:n.227G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148394.2:n.227G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148395.2:n.379G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148398.2:n.227G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148399.2:n.619G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000023558OMIMno assertion criteria providedPathogenic
(May 26, 2009)
germlineliterature only

PubMed (3)
[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

Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome.

Villanova M, Mercuri E, Bertini E, Sabatelli P, Morandi L, Mora M, Sewry C, Brockington M, Brown SC, Ferreiro A, Maraldi NM, Toda T, Guicheney P, Merlini L, Muntoni F.

Neuromuscul Disord. 2000 Dec;10(8):541-7.

PubMed [citation]
PMID:
11053679

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

van Reeuwijk J, Maugenre S, van den Elzen C, Verrips A, Bertini E, Muntoni F, Merlini L, Scheffer H, Brunner HG, Guicheney P, van Bokhoven H.

Hum Mutat. 2006 May;27(5):453-9.

PubMed [citation]
PMID:
16575835
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000023558.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

In 2 Italian sibs with congenital muscular dystrophy plus impaired intellectual development (MDDGB1; 613155), originally reported by Villanova et al. (2000), van Reeuwijk et al. (2006) identified compound heterozygosity for 2 mutations in the POMT1 gene: a 193G-A transition, resulting in a gly65-to-arg (G65R) substitution, and a 1746G-C transversion, resulting in a trp582-to-cys (W582C; 607423.0007) substitution. The G65R substitution occurs within the protein mannosyltransferase (PMT) domain but is not highly conserved, whereas the W582C substitution affects a highly conserved residue in the endoplasmic reticulum domain. Van Reeuwijk et al. (2006) suggested that the relatively milder phenotype observed in these patients, compared to those with Walker-Warburg syndrome (MDDGA1; 236670) was due to some residual POMT1 activity.

Mercuri et al. (2009) identified a homozygous G65R mutation in an Italian patient with POMT1-related muscular dystrophy, microcephaly, and mental retardation. Brain MRI was normal. The G65R mutation was found in compound heterozygosity with another POMT1 mutation in 4 additional patients with a similar phenotype, although some had cerebellar hypoplasia.

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

Last Updated: Feb 3, 2021

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