MAPT D285N - GET-Evidence

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

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(MAPT Asp285Asn)

You are viewing an old version of this page that was saved on November 29, 2012 at 4:43am by Genome Importing Robot.

Short summary


Variant evidence
Computational 5

PolyPhen2: Benign, score 0.014
SIFT: Tolerated 0.15
GVGD: Class C0
Variant Effect Predictor (Ensembl ):
Mutation Tasting prediction: Polymorphism p value: 0.99998; No protein features affected.

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)



hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr17:44061023


hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr17:44061023




Added in this revision:

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom A @ chr17:44061023


hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr17:44061023




hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom A @ chr17:44061023


huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr17:44061023


GS06985 - var-GS06985-1100-36-ASM
het A @ chr17:41416860


GS06994 - var-GS06994-1100-36-ASM
het A @ chr17:41416860


GS19648 - var-GS19648-1100-36-ASM
het A @ chr17:41416860




Other external references

  • rs62063786
  • 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":

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