GUSB R382C - GET-Evidence

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

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(GUSB Arg382Cys)

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

  • A @ chr7:65439613: 0.0% (1/10758) in EVS
  • Frequency shown in summary reports: 0.0% (1/10758)



Other external references

  • Score: 1.0 (probably damaging)
    Web search results (7 hits -- see all)
  • Type III 97%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... Reference(s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R ...
  • - Медицина -> Литература - Другое (книга по генетике)
    ВВЕДЕНИЕ Если век Х1Х по-праву вошел в историю мировой цивилиза- ции, как Век ... Введение этого же гена (GUSB) в мутантные стволовые клетки мышей ...
  • OMIM: 611499
    The GUSB gene is mutated in mucopolysaccharidosis type VII (MPS7; ... in the GUSB gene, resulting in an arg382-to-cys (R382C) substitution in a highly ...
  • Книга по генетике - MedicReferat
    Слая синдром, ¦ ¦R382C, R216W, R354W, ¦Oshima et al., 1987 ... GUSB.5; 21 кб, 12экз.¦нидаза 651¦ ¦Tomatsu et al.,1991. ¦ Сиалидоз типы I и II;¦50-100 случаев¦ ¦Oohira et al. ...
  • Реферат: Литература - Другое (книга по генетике ...
    Если век Х1Х по-праву вошел в историю мировой цивилиза- ции, как Век Физики, то стремительно ...

Other in silico analyses

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 5

Edit history

Gene search

"GENE" or "GENE A123C":

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