MAPT D285N - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!


(See the latest version)


(MAPT Asp285Asn)

You are viewing an old version of this page that was saved on December 27, 2009 at 3:58pm by Genome Importing Robot.

Added in this revision:

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

  • A @ chr17:44061023: 16.7% (1794/10758) in EVS
  • A @ chr17:41416859: 8.1% (10/124) in GET-Evidence
  • Frequency shown in summary reports: 16.7% (1794/10758)



Other external references

  • Score: 0.014 (benign)
    Web search results (3 hits -- see all)
  • Type II- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... Polymorphism (dbSNP:rs5030723) 11514453 MAPT P10636 D285N 282 VAR_010340 CK2 (0. ...
  • AD&FTD Mutation Database
    MAPT Asp285Asn Mutation Details (Table Legend) Gene. MAPT. Name. g.97063G>A (relative to ... p.D285N. Region. EX4a. CDS. Phenotype. No Phenotype (Not pathogenic) ...
  • Parkinson Disease Knowledgebase
    MAPT. Variant (mutation/polymorphism) information mined from UniProt : ... D285N (Unclassified) [ VAR_010340 ] D285N (Unclassified) V289A (Unclassified) ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

Log in