HPS3 R396W - GET-Evidence

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

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Curation:
Currentness:

HPS3 R396W

(HPS3 Arg396Trp)


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
 

    Web search results (18 hits -- see all)
  • Hermansky-Pudlak Syndrome Type 3 in Ashkenazi Jews and Other ...
    A third HPS-causing gene, HPS3, was recently identiļ¬ed on the basis of homozygosity ... missense (R396W), with decreased mRNA production. A 15-year-old Irish/English boy was ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Hermansky-Pudlak Syndrome Type 3 in Ashkenazi Jews and Other ...
    A third HPS-causing gene, HPS3, was recently identified on the basis of homozygosity ... We document HPS3 mutations that include four splice-site mutations, a ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1274349/?tool=pmcentrez
  • Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other ...
    A third HPS-causing gene, HPS3, was recently identified on the basis of homozygosity ... in a C1329T missense (R396W), with decreased mRNA production. ...
    www.ncbi.nlm.nih.gov/pubmed/11590544
  • AJHG - Hermansky-Pudlak Syndrome Type 3 in Ashkenazi Jews and ...
    A third HPS-causing gene, HPS3, was recently identified on the basis of homozygosity ... in a C1329T missense (R396W), with decreased mRNA production. ...
    www.cell.com/AJHG/abstract/S0002-9297(07)61318-4
  • Mendelian Inheritance in Man Document Reader
    The protein encoded by the HPS3 gene is predicted to consist of 1,004 amino ... The HPS3 protein contains a potential clathrin-binding motif at residues 172 to ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+606118
  • corpus 2
    AB - In a search for genes involved in X-linked mental retardation we have ... This gene is a member of a new defined MAGE-D cluster in Xp11.2, a hot spot for ...
    pir.georgetown.edu/pirwww/iprolink/corpus2.xml
  • Albinism
    A third HPS-causing gene, HPS3, was recently identified on the basis ... 14, and resulting in a C1329T missense (R396W), with decreased mRNA production. ...
    www.thedoctorsdoctor.com/diseases/albinism.htm
  • Platelet Storage Pool Deficiency :: physiopathology
    A third HPS-causing gene, HPS3, was recently identified on the basis of homozygosity ... 14, and resulting in a C1329T missense (R396W), with decreased mutation mRNA production. ...
    lib.bioinfo.pl/meid:237307
  • Hermansky-Pudlak syndrome. Ophthalmic findings.
    GFP-HPS3 in which the predicted clathrin-binding domain of HPS3 was mutated (GFP ... CONCLUSION: HPS3 associates with clathrin, predominantly on small clathrin ...
    lib.bioinfo.pl/pmid:3174014
  • HPS3 Gene, HPS3 Transcript, HPS3 Protein, and HPS3 Antibody ...
    Homo sapiens. This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for ...
    refgene.com/gene/84343

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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