TTPA H101Q - GET-Evidence

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

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Curation:
Currentness:

TTPA H101Q

(TTPA His101Gln)


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: 0.963 (probably damaging)
    Web search results (5 hits -- see all)
  • TTPA - tocopherol (alpha) transfer protein - Genetics Home ...
    The TTPA gene is also known by other names, listed below. What is the ... The TTPA gene provides instructions for making the α-tocopherol transfer protein ...
    ghr.nlm.nih.gov/gene=ttpa
  • Cerebellar ataxia due to isolated vitamin E deficiency S ...
    The journal is owned by the Indian Journal of Medical Sciences Trust, a registered charitable organisation. ... mutation in the TTPA gene - His101Gln (H101Q) i.e substitution of ...
    indianjmedsci.org/article.asp?issn=0019-5359;year=2005;vo...
  • CASE REPORT
    with a mutation in the alpha tocopherol transfer protein gene (TTPA) ... a unique mutation in the TTPA gene - His101Gln (H101Q) i.e substitution of. glutamine for ...
    tspace.library.utoronto.ca/bitstream/1807/4194/1/ms05004.pdf
  • Mechanisms of Ligand Transfer by the Hepatic Tocopherol ...
    Multiple mutations in the ttpA gene were identified in AVED patients, which are thought to impair the ... R192H, H101Q) exhibited pronounced sensitivity to the presence of ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2440614
  • Tocopherol (alpha) transfer protein (TTPA) - Medpedia
    The information on this page is seed content provided by an organization. Please help ... The TTPA gene provides instructions for making the α-tocopherol transfer protein (αTTP) ...
    wiki.medpedia.com/Tocopherol_(alpha)_transfer_protein_(TTPA)

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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