TGFB1 Y81H - GET-Evidence

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

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(TGFB1 Tyr81His)

Short summary


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


Insufficiently evaluated pathogenic

(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

  • None available.



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 ...
  • 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, ...
  • 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. ...
  • 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 ...
  • 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, ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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