TGFB1 Y81H - GET-Evidence

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

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Curation:
Currentness:

TGFB1 Y81H

(TGFB1 Tyr81His)


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
 

    Web search results (15 hits -- see all)
  • Mendelian Inheritance in Man Document Reader
    ... pro-TGFB1 was cleaved by furin (136950) to produce a biologically active TGFB1 protein. ... tyr81-to-his (Y81H) substitution in the TGFB1 gene as the cause of Camurati-Engelmann ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+190180
  • treatment families and implications for diagnosis and ...
    analysis of TGFB1 showed a Y81H missense mutation in the ... Although this could imply that the Y81H variant is. not the disease causing mutation, ...
    jmg.bmj.com/content/43/1/1.full.pdf?ck=nck
  • Camurati‐Engelmann disease: review of the clinical ...
    Although this could point to genetic heterogeneity, mutation analysis of TGFB1 showed a Y81H missense mutation in the girl. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2564495
  • Transforming growth factor-beta 1 mutations in Camurati ...
    The LLL12-13ins and Y81H mutations on the contrary have a profound effect on ... TGFB1 protein, human. Transforming Growth Factor beta. Transforming ...
    www.ncbi.nlm.nih.gov/pubmed/12493741
  • Camurati-Engelmann disease: review of the clinical ...
    Janssens, K; Vanhoenacker, F; Bonduelle, M; Verbruggen, L; Van Maldergem, L; Ralston, S; Guañabens, N; Migone, N; Wientroub, S; Divizia, M T; Bergmann, C; Bennett, ...
    jmg.bmj.com/content/43/1/1.full
  • 其它
    Primers were used to amplify the entire coding region of the TGFB1 gene. ... of the entire coding region and intron–exon boundaries of TGFB1 revealed ...
    cof.org.cn/chinese/Contents/.../title06/title.htm
  • Transforming growth factor-beta-1 mutations in Camurati ...
    a valid UniProt identifier, for example: P00750 or A4_HUMAN or ... The LLL12-13ins and Y81H mutations on the contrary have a profound effect on ...
    www.uniprot.org/citations/12493741
  • 第3回日本医学会特別シンポジウム記録集
    の EST や,CALM3,ZFP36,TGFB1 など. の既知遺伝子があり,各々 CED の候補遺伝. 子となりうる。 特に TGFB1 は,骨芽細胞の. 分化 ・ 増殖 に ... 13insとY81H)を報告した. 7) 変異はともに. 第1エクソン内(LAP内)に存在する。 しか. し筆者らがスクリーニングした. 11名の ...
    jams.med.or.jp/symposium/full/03027.pdf
  • Transforming Growth Factor- 1 to the Bone
    tgfbr2 and those tgfb1 knockout mice that die in utero (see ... similar to that of tgfb1 and tgfbr2 knockout mice, suggesting. an in vivo requirement for ...
    edrv.endojournals.org/cgi/reprint/26/6/743.pdf
  • Type I- 95%
    ... (0.589) MDB and hepatocellular carcinoma, enhances transactivation of target ... 47 VAR_037842 gCK1 (0.632) 16192744 TGFB1 P01137 T263I 263 VAR_016173 CMGC (0. ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeI-_95.txt

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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