MAPT Q230R - GET-Evidence

Curation:
Currentness:

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MAPT Q230R

(MAPT Gln230Arg)


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Short summary

Common polymorphism.

Variant evidence
Computational -1

Polyphen 2 predicts “probably damaging”

Functional -
Case/Control 5

High allele frequency strongly contradicts any severe pathogenic effect.

See 15365985.

Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Low clinical importance, Uncertain benign

(The "low clinical importance, uncertain" 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 @ chr17:44060859: 4.2% (449/10690) in EVS
  • G @ chr17:41416695: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 4.2% (449/10690)

Publications
 

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PubMed PMID: 15365985

 

Genomes
 

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr17:41416696

 

Other external references
 

    dbSNP
  • rs63750072
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.895 (probably damaging)
    Web search results (1 hit -- see all)
  • AD&FTD Mutation Database
    MAPT Gln230Arg Mutation Details (Table Legend) Gene. MAPT. Name. g.96899A>G (relative to ... p.Q230R. Region. EX4a. CDS. Phenotype. No Phenotype (Not pathogenic) ...
    molgen.ua.ac.be/ADMutations/Default.cfm?MT=1&ML=0&...&ID=209

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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