MAST2 K1197R - GET-Evidence

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

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MAST2 K1197R

(MAST2 Lys1197Arg)

You are viewing an old version of this page that was saved on March 5, 2012 at 3:02pm by Genome Importing Robot.

Short summary


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


Insufficiently evaluated not reviewed

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

Inheritance pattern


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)



Added in this revision:


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

  • rs1052607
  • 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 ...
  • 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. ...
  • 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. ...
  • 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 ...
  • 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. ...

Other in silico analyses

  • NBLOSUM100 score = –3
  • GET-Evidence autoscore = 1

Edit history

Gene search

"GENE" or "GENE A123C":

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