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NM_002448.3(MSX1):c.605G>C (p.Arg202Pro) AND Tooth agenesis, selective, 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 1998
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:
RCV000016008.26

Allele description [Variation Report for NM_002448.3(MSX1):c.605G>C (p.Arg202Pro)]

NM_002448.3(MSX1):c.605G>C (p.Arg202Pro)

Gene:
MSX1:msh homeobox 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p16.2
Genomic location:
Preferred name:
NM_002448.3(MSX1):c.605G>C (p.Arg202Pro)
Other names:
R31P
HGVS:
  • NC_000004.12:g.4862836G>C
  • NG_008121.1:g.8172G>C
  • NM_002448.3:c.605G>CMANE SELECT
  • NP_002439.2:p.Arg202Pro
  • LRG_1342t1:c.605G>C
  • LRG_1342:g.8172G>C
  • LRG_1342p1:p.Arg202Pro
  • NC_000004.11:g.4864563G>C
  • P28360:p.Arg202Pro
Protein change:
R202P; ARG31PRO
Links:
UniProtKB: P28360#VAR_003754; OMIM: 142983.0001; dbSNP: rs121913129
NCBI 1000 Genomes Browser:
rs121913129
Molecular consequence:
  • NM_002448.3:c.605G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Tooth agenesis, selective, 1
Synonyms:
HYPODONTIA/OLIGODONTIA 1; SECOND PREMOLARS AND THIRD MOLARS, ABSENCE OF
Identifiers:
MONDO: MONDO:0007129; MedGen: C3489529; Orphanet: 99798; OMIM: 106600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000036275OMIM
no assertion criteria provided
Pathogenic
(Oct 1, 1998) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

A human MSX1 homeodomain missense mutation causes selective tooth agenesis.

Vastardis H, Karimbux N, Guthua SW, Seidman JG, Seidman CE.

Nat Genet. 1996 Aug;13(4):417-21.

PubMed [citation]
PMID:
8696335

Haploinsufficiency of MSX1: a mechanism for selective tooth agenesis.

Hu G, Vastardis H, Bendall AJ, Wang Z, Logan M, Zhang H, Nelson C, Stein S, Greenfield N, Seidman CE, Seidman JG, Abate-Shen C.

Mol Cell Biol. 1998 Oct;18(10):6044-51.

PubMed [citation]
PMID:
9742121
PMCID:
PMC109190

Details of each submission

From OMIM, SCV000036275.2

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

Description

In a family with autosomal dominant agenesis of second premolars and third molars (STHAG1; 106600), Vastardis et al. (1996) identified an arg31-to-pro (R31P) missense mutation in the homeodomain of the MSX1 gene.

Hu et al. (1998) studied the effect of the MSX1 R31P mutation by biochemical and functional analyses. Hu et al. (1998) demonstrated that MSX1 carrying the R31P mutation has perturbed structure and reduced thermostability compared with wildtype MSX1. As a consequence, the biochemical activities of MSX1(R31P) are severely impaired, since it exhibits little or no ability to interact with DNA or other protein factors or to function in transcriptional repression. Hu et al. (1998) demonstrated that MSX1(R31P) is inactive in vivo; it does not display the activities of wildtype MSX1 in assays of ectopic expression in the limb. Because MSX1(R31P) appears to be inactive and does not affect the action of wildtype MSX1, Hu et al. (1998) concluded that the phenotype of affected individuals with selective tooth agenesis is due to haploinsufficiency.

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

Last Updated: Apr 23, 2022