ATP1A2 T376M - GET-Evidence

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

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Curation:
Currentness:

ATP1A2 T376M

(ATP1A2 Thr376Met)


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: 1.0 (probably damaging)
    Web search results (24 hits -- see all)
  • Recurrent ATP1A2 mutations in Portuguese families with ...
    Here we report on the recurrence of ATP1A2 mutations M731T and T376M that affect sodium-potassium pump functioning in two Portuguese FHM families. ...
    www.ncbi.nlm.nih.gov/pubmed/17952365
  • BioPortfolio - ATP1A2 - ATPase, Na+/K+ transporting, alpha 2 ...
    two novel ATP1A2 mutations that were identified in two Portuguese ... the recurrence of ATP1A2 mutations M731T and T376M that affect sodium-potassium pump functioning in two ...
    www.bioportfolio.com/gene/477-ATP1A2.html
  • Journal of Human Genetics - Abstract of article: Recurrent ...
    Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine ... the recurrence of ATP1A2 mutations M731T and T376M that affect sodium ...
    www.nature.com/jhg/journal/v52/n12/abs/jhg2007131a.html
  • rgilgouveia - Publications List
    Here we report on the recurrence of ATP1A2 mutations M731T and T376M that affect sodium-potassium pump functioning in two Portuguese FHM families. ...
    publicationslist.org/rgilgouveia
  • Familial hemiplegic migraine - Wikipedia, the free encyclopedia
    ... by mutations in the Na+/K+-ATPase gene ATP1A2. FHM3 is a rare subtype of FHM and is ... ATP1A2 Na+/K+-ATPase causes increased release of compounds such as adenosine from ...
    en.wikipedia.org/wiki/Familial_hemiplegic_migraine
  • Familial hemiplegic migraine - wikidoc
    ... by mutations in the Na+/K+-ATPase gene ATP1A2. FHM3 is a rare subtype of FHM and is ... ATP1A2 Na+/K+-ATPase causes increased release of compounds such as adenosine from ...
    wikidoc.org/index.php/Familial_hemiplegic_migraine
  • Familial hemiplegic migraine: Encyclopedia of chemistry ...
    Familial hemiplegic migraine. Encyclopedia of chemistry, analytics & pharmaceutics with 64,557 entries. ... 11 other kindreds (55%) already having mutations in CACNA1A or ATP1A2. ...
    www.chemie.de/lexikon/e/Familial_hemiplegic_migraine
  • ATP1A2 : un facteur essentiel dans la migraine hémiplégique ...
    ATP1A2 : un facteur essentiel dans la migraine hémiplégique familiale / ATP1A2 : a key ... T376M. R593W. R937P. Del A. Del B Ext. COOH. W887R. E902K. P796R. tions E. 2 .2 ...
    www.erudit.org/revue/ms/2006/v22/n4/012797ar.pdf
  • FHA - Recurrent ATP1A2 mutations in Portuguese families with ...
    Here we report on the recurrence of ATP1A2 mutations M731T and T376M that affect sodium-potassium pump functioning in two Portuguese FHM families. ...
    find-health-articles.com/rec_pub_17952365-recurrent-atp1a2...
  • Koenderink, JB (Jan B)
    Koenderink, JB (Jan B) :: Conformational dynamics of Na+/K+- and H ... ATP1A2 mutations associated with FHM or SHM, including missense mutations (T263M, T376M, ...
    lib.bioinfo.pl/auid:1882490

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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