TYR G191D - GET-Evidence

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

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Curation:
Currentness:

TYR G191D

(TYR Gly191Asp)


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: 0.001 (benign)
    Web search results (3 hits -- see all)
  • METHODS FOR ENGINEERING POLYPEPTIDE VARIANTS VIA SOMATIC ...
    ... still further comprise at least one substitution selected from T127S and G191D. ... Tyr Gly Ser Lys Ala Tyr Val Lys His Pro Ala Asp Ile65 70 75 80Pro Asp Tyr Leu ...
    www.faqs.org/patents/app/20080293068
  • bsite
    Tyr 1608326P:ACh receptor alpha:epitope:173-204 1105392Q:ACh receptor ... D-lactate dehydrogenase:phospholipid:Phe/Tyr replaced by Trp 1808396P:D-xylose ...
    ftp.dna.affrc.go.jp/pub/prf/prf_data/prf2024/bsite
  • Red-shifted fluorescent proteins mPlum and mRaspberry and ...
    Methods using somatic hypermutation (SHM) for producing polypeptide and nucleic acid variants, and nucleic acids encoding such polypeptide variants are disclosed. ...
    www.freepatentsonline.com/7393923.html

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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