GUSB R382C - GET-Evidence

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

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Curation:
Currentness:

GUSB R382C

(GUSB Arg382Cys)


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

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

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • 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 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_97.txt
  • 5ka.ru - 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 ...
    5ka.ru/50/10560/1.html
  • 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 ...
    www.genome.jp/dbget-bin/www_bget?mim:611499
  • 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. ...
    www.medicreferat.com.ru/pageid-790-10.html
  • Реферат: Литература - Другое (книга по генетике ...
    Если век Х1Х по-праву вошел в историю мировой цивилиза- ции, как Век Физики, то стремительно ...
    www.bestreferat.ru/referat-47742.html

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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