ATP1A2 R65W - GET-Evidence

Curation:
Currentness:

ATP1A2 R65W

(ATP1A2 Arg65Trp)


Short summary

Hypothesized to cause familial hemiplagic migraine type 2 in a dominant manner, which causes migraine with associated motor weakness as well as aura. This variant was reported seen in only one family; not enough evidence has been reported to establish a statistically significant association with the disease.

Variant evidence
Computational 2

Polyphen 2 predicts damaging effect, other variants in this gene implicated in this disease

Functional -
Case/Control -
Familial 1

Seen in one family, genotype segregating with phenotype in four children tested (includes proband; estimated LOD: 0.9)

See Tonelli A et al. 2007 (17877748).

 
Clinical importance
Severity 3
Treatability 1
Penetrance 5

hypothesized effect is high penetrance

See Tonelli A et al. 2007 (17877748).

 

Impact

Moderate clinical importance, Uncertain pathogenic

(The "moderate clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

dominant

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr1:160093018: 0.0% (2/10758) in EVS
  • Frequency shown in summary reports: 0.0% (2/10758)

Publications
 

Tonelli A, Gallanti A, Bersano A, Cardin V, Ballabio E, Airoldi G, Redaelli F, Candelise L, Bresolin N, Bassi MT. Amino acid changes in the amino terminus of the Na,K-adenosine triphosphatase alpha-2 subunit associated to familial and sporadic hemiplegic migraine. Clin Genet. 2007 Dec;72(6):517-23. Epub 2007 Sep 18. PubMed PMID: 17877748.

 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.863 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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