TYR D365N - GET-Evidence

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

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Curation:
Currentness:

TYR D365N

(TYR Asp365Asn)


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 (11 hits -- see all)
  • A Modular Treatment of Molecular Traffic Through the Active ...
    chains of amino acids such as Trp, Phe, and Tyr can. efficiently compete with full water solvation for the ... D275V/D278N/D365N (5m); E82Q/E89Q/D275V/D278N/E285Q/D365N (6m) ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • How Synaptotagmin Promotes Membrane Fusion
    Q, Gln; R, Arg; S, Ser; T, Thr; V, Val; W, Trp; and Y, Tyr. ... of the C2B domain (D363N, D365N) did not. induce membrane curvature (Fig. 2H). These ...
    www2.mrc-lmb.cam.ac.uk/archive/papers/2007-038.pdf
  • .alpha.-amylase mutants - Patent # 6440716 - PatentGenius
    The present invention relates to a method of constructing a variant of a parent Termamyl-like .alpha.-amylase, which variant has .alpha.-amylase activity and at least ...
    www.patentgenius.com/patent/6440716.html
  • .alpha.-amylase mutants - Patent # 7115409 - PatentGenius
    The present invention relates to a method of constructing a variant of a parent Termamyl-like .alpha.-amylase, which variant has .alpha.-amylase activity and at least ...
    www.patentgenius.com/patent/7115409.html
  • .alpha.-amylase mutants
    The invention relates to a variant of a parent Termamyl-like a-amylase, which ... at least one of the following properties relative to said parent a-amylase: ...
    devileye.net/catalog/.../alpha_-amylase_mutants.html
  • α-amylase mutants - Patent 6022724
    The present invention relates to a method of constructing a variant of a parent Termamyl-like α-amylase, which variant has α-amylase activity and at least one ...
    www.freepatentsonline.com/6022724.html
  • α-amylase mutants - Patent 6436888
    The invention relates to a variant of a parent Termamyl-like a-amylase, which variant has a-amylase activity and exhibits an alteration in at least one of the ...
    www.freepatentsonline.com/6436888.html

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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