MAPT S447P - 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.

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Curation:
Currentness:

MAPT S447P

(MAPT Ser447Pro)


Short summary

 

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

Impact

Insufficiently evaluated not reviewed

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

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • C @ chr17:44067400: 16.6% (1784/10758) in EVS
  • C @ chr17:41423236: 10.9% (14/128) in GET-Evidence
  • Frequency shown in summary reports: 16.6% (1784/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr17:44067400

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr17:44067400

 

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom C @ chr17:44067400

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr17:44067400

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom C @ chr17:44067400

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr17:44067400

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom C @ chr17:44067400

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het C @ chr17:44067400

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het C @ chr17:44067400

 

GS06985 - var-GS06985-1100-36-ASM
het C @ chr17:41423237

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr17:41423237

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr17:41423237

 

GS20509 - var-GS20509-1100-36-ASM
hom C @ chr17:41423237

 

NA12878

 

Other external references
 

    dbSNP
  • rs10445337
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (8 hits -- see all)
  • AD&FTD Mutation Database
    MAPT EX6 Ser53Pro Mutation Details (Table Legend) Gene. MAPT. Name. g. ... p.S447P. Region. EX6. CDS. Phenotype. No Phenotype (Not pathogenic) Function. No Functional ...
    molgen.ua.ac.be/ADMutations/Default.cfm?MT=1&ML=0&...&ID=215
  • Type II- 97%
    ... PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... (0.615) Polymorphism (dbSNP:rs1051130) 1386336 MAPT P10636 S447P 444 VAR_010343 gCK1 (0.630) 9629852 FAM114A1 ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeII-_97.txt
  • Type I- 99%
    ... IKK (0.822) 11245985 MAPT P10636 S622N 622 VAR_010350 CAMKL ... Polymorphism (dbSNP:rs2452600) 17287340 MAPT P10636 S447P 447 VAR_010343 GSK (0. ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_99.txt
  • Parkinson Disease Knowledgebase
    MAPT. Variant (mutation/polymorphism) information mined from UniProt : ... S447P (Polymorphism) [ VAR_010343 ] S447P (Polymorphism) K574T (Unclassified) ...
    datam.i2r.a-star.edu.sg/mdpd/detail.php?symbol=MAPT&sec=2

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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