MAPT Q230R - GET-Evidence

Curation:
Currentness:

MAPT Q230R

(MAPT Gln230Arg)


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 Rademakers R et al. 2004 (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
 

Rademakers R, Cruts M, van Broeckhoven C. The role of tau (MAPT) in frontotemporal dementia and related tauopathies. Hum Mutat. 2004 Oct;24(4):277-95. Review. PubMed PMID: 15365985.

Reported as a nonpathogenic polymorphism (Table 2).

Genomes
 

 

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het G @ chr17:44060859

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het G @ chr17:44060859

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr17:44060859

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het G @ chr17:44060859

 

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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