ENAM P724L - 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:

ENAM P724L

(ENAM Pro724Leu)


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

  • T @ chr4:71509314: 1.2% (128/10752) in EVS
  • T @ chr4:71728177: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 1.2% (128/10752)

Publications
 

Genomes
 

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr4:71509314

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr4:71728178

 

Other external references
 

    dbSNP
  • rs3796703
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (8 hits -- see all)
  • Enamelin precursor - Homo sapiens (Human)
    Defects in ENAM are the cause of amelogenesis imperfecta hypoplastic type 1B ... Defects in ENAM are the cause of amelogenesis imperfecta type 1C (AI1C) [MIM: ...
    www.uniprot.org/uniprot/Q9NRM1
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k ... 0;\-"ú"#,##0*"ú"#,##0;[Red]\-"ú"#,##0*"ú"#,##0.00;\-"ú"#,##0.00**#*"ú"#,##0.00; ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • Type II- 97%
    ... PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed kinase ... (0.828) RSK (0.947) ENAM Q9NRM1 P724L 723 VAR_020105 CMGC (0.930) CDK ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeII-_97.txt
  • Type III 99%
    ... (s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R 14 ... extracellular matrix 12928864 9806553 ENAM Q9NRM1 P724L 723 VAR_020105 CK2 (0. ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_99.txt
  • ENAM Gene - GeneCards | ENAM Protein | ENAM Antibody
    EntrezGene summary for ENAM: Dental enamel forms the outer cap of teeth and is the ... ENAM Gene in genomic location: bands according to Ensembl, locations ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=ENAM&snp=49

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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