MSX2 R172H - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

MSX2 R172H

(MSX2 Arg172His)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the MSX2 gene
    Enlarged Parietal Foramina/Cranium Bifidum
    MSX2-Related Craniosynostosis
    Parietal Foramina 1
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MSX2
    Web search results (13 hits -- see all)
  • Functional haploinsufficiency of the human homeobox gene MSX2 ...
    Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification ... homeodomain (RK159-160del and R172H) that predict disruption of ...
    www.nature.com/ng/journal/v24/n4/abs/ng0400_387.html
  • Functional haploinsufficiency of the human homeobox gene MSX2 ...
    Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. ... homeodomain (RK159-160del and R172H) that predict disruption of ...
    www.ncbi.nlm.nih.gov/pubmed/10742103
  • Mendelian Inheritance in Man Document Reader
    Mouse Msx2 protein with either of the homeodomain mutations exhibited more than ... 515 of the MSX2 gene resulting in an arg172-to-his (R172H) substitution. ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+123101
  • Type II- 95%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT ... (dbSNP:rs1044009) 9388399 LDHB P07195 R172H 173 VAR_004177 JakA (0.515) LDHB ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • Functional haploinsufficiency of the human homeobox gene MSX2 ...
    The genetic analysis of congenital skull malformations provides insight into normal mechanisms of calvarial osteogenesis.
    www.medscape.com/medline/abstract/10742103
  • Identification of mutations in the MSX2 homeobox gene in ...
    Previously, MSX2 has been shown to be mutated in patients suffering ... the substitution of arginine to histidine (R172H), was detected in family 2 (Fig. ...
    hmg.oxfordjournals.org/cgi/content/full/9/8/1251
  • PubMed: 10742103
    Mouse Msx2 protein with either of the homeodomain mutations exhibited more than ... This demonstrates that MSX2 dosage is critical for human skull development and ...
    www.genome.jp/dbget-bin/www_bget?pubmed+10742103
  • MSX2 Gene, MSX2 Transcript, MSX2 Protein, and MSX2 Antibody ...
    Msx2/Hox8 antibody (ab70980); Rabbit polyclonal to Msx2/Hox8 ... binding homeodomain (RK159-160del and R172H) that predict disruption of critical intramolecular and DNA ...
    refgene.com/gene/4488
  • Cranial Sutures :: growth & development
    BioInfoBank Library :: Cranial Sutures :: growth & development : ... Mouse Msx2 protein with either of the homeodomain mutations exhibited more than 85% reduction in binding to ...
    lib.bioinfo.pl/meid:187584
  • Parietal Bone :: growth & development
    BioInfoBank Library :: Parietal Bone :: growth & development :: Neurocranial morphology and growth in Williams syndrome. Foetal twin ultrasound biometry. ...
    lib.bioinfo.pl/meid:99494

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in