SPTA1 A970D - GET-Evidence

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

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Currentness:

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SPTA1 A970D

(SPTA1 Ala970Asp)


You are viewing an old version of this page that was saved on May 10, 2010 at 6:30pm by Madeleine Ball.

Short summary

This variant, also called alpha-IIa, has been seen frequently in individuals with recessive Hereditary pyropoikilocytosis.

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

recessive

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr1:158624528: 3.7% (370/9916) in EVS
  • T @ chr1:156891151: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 3.7% (370/9916)

Publications
 

Maillet P, Alloisio N, Morlé L, Delaunay J. Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis. Hum Mutat. 1996;8(2):97-107. PubMed PMID: 8844207.

They mention the allele alpha-LEPRA as also implicated in hereditary spherocytosis, a C>T substitution at position -99 of intron 30. They say this is linked in cis to the alpha-IIs (A970D) substitution.

Edited in this revision:

Costa DB, Lozovatsky L, Gallagher PG, Forget BG. A novel splicing mutation of the alpha-spectrin gene in the original hereditary pyropoikilocytosis kindred. Blood. 2005 Dec 15;106(13):4367-9. Epub 2005 Sep 8. PubMed PMID: 16150946; PubMed Central PMCID: PMC1895230.

This variant is noted to be linked to alpha-LEPRA and is seen frequently in individuals with recessive Hereditary pyropoikilocytosis.

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr1:158624528

 

snp-18

 

Other external references
 

    dbSNP
  • rs35948326
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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