MAST2 K1197R - 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.

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Curation:
Currentness:

MAST2 K1197R

(MAST2 Lys1197Arg)


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

  • G @ chr1:46499526: 5.5% (559/10096) in EVS
  • G @ chr1:46272112: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 5.5% (559/10096)

Publications
 

Genomes
 

 

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het G @ chr1:46499526

 

 

GS06985 - var-GS06985-1100-36-ASM
het G @ chr1:46272113

 

GS19670 - var-GS19670-1100-36-ASM
het G @ chr1:46272113

 

GS20509 - var-GS20509-1100-36-ASM
het G @ chr1:46272113

 

Other external references
 

    dbSNP
  • rs1052607
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.019 (benign)
    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
  • 1 Methods online supplement Allele Frequency and Genotype ...
    DNA pools, typically of 50 cases or controls, were made by mixing ... rs1052607 MAST2. 0.020. rs3858610 PLXNC1. 0.040. rs1801262 NEUROD1 0.00073. rs2549782 LRAP. 0. ...
    atvb.ahajournals.org/cgi/data/.../DC1/1
  • 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
  • Mooney Lab - MutDB
    Mooney Lab Home Publications Research Contact Us. Gene ID: MAST2 ... MutDB MutPred In Silico Functional Profiling PhenoPred S-BLEST CRP Web Services ...
    mutdb.org/cgi-bin/mutdb.pl?id=MAST2&geneid=23139
  • 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 = –3
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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