PEX7 T14P - GET-Evidence

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

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Curation:
Currentness:

PEX7 T14P

(PEX7 Thr14Pro)


Short summary

 

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

Impact

Insufficiently evaluated pathogenic

(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

  • None available.

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.078 (benign)
    Web search results (15 hits -- see all)
  • Report Identification of PEX7 as the Second Gene Involved in ...
    in PEX7 normally cause rhizomelic chondrodysplasia punctata type 1, a ... It remains to be established how the T14P mu- tation interferes with the function of ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Rhizomelic Chondrodysplasia Punctata Type 1 -- GeneReviews ...
    PEX7, which encodes the receptor for a subset of peroxisomal matrix ... Pex7 protein and thus unlikely to disrupt its structural integrity (S25F, H285R, T14P) ...
    www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=rcdp
  • Identification of PEX7 as the Second Gene Involved in Refsum ...
    Identification of PEX7 as the Second Gene Involved in Refsum Disease. Daan M. van den ... The second mutation in proband 2 was a T14P amino acid substitution. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC379239
  • Hereditary Motor Sensory Neuropathies: Charcot-Marie-Tooth
    Sensory PN + Hearing loss: GJB3; 1p35. Hypomyelination: ARHGEF10; 8p23 ... Adolescent-Adult: PEX7; 6q22. Infant: PEX1; 7q21. Refsum-like: 20p11. HMSN + CNS: ...
    neuromuscular.wustl.edu/time/hmsn.html
  • Type I- 98%
    ... Reference(s) for variant Reference(s) for phosphorylation site TBX19 O60806 S128F 128 ... 940) breast cancer 12082532 PEX7 O00628 T14P 14 VAR_016810 CMGC (0. ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeI-_98.txt
  • WUSTL - Hereditary Motor Sensory Neuropathies: Charcot-Marie ...
    Home, Cerca, Indice alfabetico, Collegamenti, Patologia, Molecole, ... Giunzioni neuromuscolari, Nervi, Spinale, Atassia, Anticorpi e Biopsia, ...
    www.fonama.org/i_neuro.wustl.edu/time/i_hmsn.html
  • Type I- 95%
    ... MYCBPAP Q8TBZ2 S910R 910 VAR_035005 IKK (0.685) Polymorphism (dbSNP: ... 692) Polymorphism (dbSNP:rs12638212) PEX7 O00628 T14P 14 VAR_016810 CDK (0.939) MAPK (0.945) RD 12522768 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt
  • MutationViewマニュアル
    キーワードに該当した遺伝子の中から目的の遺伝子"PEX7"にマウスポインタを合わせます。 すると、PEX7の遺伝子記号と6番染色体のイディオグラムのマップ領域が線で結ばれます。 ... 変異 "T14P"変異詳細ウィンドウを表示させ、 "T14P"を挟むプローブ"-48-165PCR20/130+108PCR18"の詳細情報を同時に表示 ...
    mutview.dmb.med.keio.ac.jp/MutationView/jsp/mutview/...
  • OMIM: 601757
    Motley et al. (1997) cloned PEX7 based on its similarity to its yeast ... A PEX7 mutation (leu292 to ter) cosegregated with the disease, and expression of PEX7 in ...
    www.genome.jp/dbget-bin/www_bget?omim+601757

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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