MAST2 V1304M - GET-Evidence

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

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Curation:
Currentness:

MAST2 V1304M

(MAST2 Val1304Met)


Short summary

 

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

Impact

Insufficiently evaluated not reviewed

(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

  • A @ chr1:46500251: 5.6% (581/10460) in EVS
  • A @ chr1:46272837: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 5.6% (581/10460)

Publications
 

Genomes
 

 

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr1:46500251

 

 

GS06985 - var-GS06985-1100-36-ASM
het A @ chr1:46272838

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr1:46272838

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr1:46272838

 

Other external references
 

    dbSNP
  • rs33931638
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.293 (possibly damaging)
    Web search results (6 hits -- see all)
  • MAST2 Gene - GeneCards | MAST2 Protein | MAST2 Antibody
    MAST2 Gene in genomic location: bands according to Ensembl, locations according ... N-terminal ubiquitination leads to degradation of MAST2 by proteasome-mediated ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=MAST2
  • Distinguishing Cancer-Associated Missense Mutations from ...
    © 2007 American Association for Cancer Research. This Article. Abstract. Full Text (PDF) ... Two of the variants, a V1304M change in MAST2 and a Y11H change RIOK2, ...
    cancerres.aacrjournals.org/cgi/content/full/67/2/465
  • Microtubule-associated serine/threonine-protein kinase 2 ...
    MAST2. Synonyms: KIAA0807, MAST205. Organism. Homo sapiens (Human) ... ubiquitination leads to degradation of MAST2 by proteasome-mediated proteolysis. ...
    www.uniprot.org/uniprot/Q6P0Q8
  • EST_based_Variants.xls
    MAST2. microtubule associated serine/threonine kinase 2. a. 241 ... V1304M. MAST2. microtubule associated serine/threonine kinase 2. b. 504. NM_018979. C5789G ...
    share.gene.com/.../EST_based_Variants.xls
  • UniProt: Q6P0Q8
    AC Q6P0Q8; O94899; Q5VT07; Q5VT08; Q7LGC4; Q8NDG1; Q96B94; Q9BYE8; DT 29-MAR-2005, ... CC leads to degradation of MAST2 by proteasome-mediated proteolysis. ...
    www.genome.jp/dbget-bin/www_bget?uniprot+Q6P0Q8

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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