SLC4A1 D38A - GET-Evidence

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

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Curation:
Currentness:

SLC4A1 D38A

(SLC4A1 Asp38Ala)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(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

  • G @ chr17:42338998: 2.7% (292/10758) in EVS
  • G @ chr17:39694523: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 2.7% (292/10758)

Publications
 

Genomes
 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het G @ chr17:42338998

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het G @ chr17:42338998

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het G @ chr17:42338998

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr17:39694524

 

GS18537 - var-GS18537-1100-36-ASM
het G @ chr17:39694524

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr17:39694524

 

Other external references
 

    dbSNP
  • rs5035
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the SLC4A1 gene
    Renal Tubular Acidosis, Distal, Autosomal Recessive
    Hemolytic Anemia due to Band 3 Montefiore
    Renal Tubular Acidosis, Distal, Autosomal Dominant
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC4A1
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (17 hits -- see all)
  • WikiGenes - SLC4A1 - solute carrier family 4, anion exchanger,...
    The world's first wiki where authorship really matters. Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts.
    www.wikigenes.org/e/gene/e/6521.html
  • Band 3 anion transport protein - Homo sapiens (Human)
    Defects in SLC4A1 are the cause of autosomal dominant distal renal tubular ... and band 3 deficiency: status of the D38A polymorphism within the EPB3 locus. ...
    www.uniprot.org/uniprot/P02730
  • Genetics and Molecular Biology - Analysis of the SLC4A1 gene ...
    Analysis of the SLC4A1 gene in three Mexican patients with hereditary ... The SLC4A1 gene (solute carrier family 4, anion exchanger, member 1) belongs to ...
    scielo.br/scielo.php?...&lng=en&nrm=iso&tlng=en
  • Blood -- The N-terminal 11 amino acids of human erythrocyte ...
    The 911 amino acid band 3 (SLC4A1) is the major intrinsic membrane protein of ... Direct nucleotide sequencing of SLC4A1 gene demonstrated a single ...
    bloodjournal.hematologylibrary.org/cgi/content/full/.../4359
  • Cluster of Differentiation
    band 3 (CD233) Review. This document is an authoritative, peer-reviewed short summary of ... and band 3 deficiency: status of the D38A polymorphism within the EPB3 locus. Br J ...
    www.sciencegateway.org/resources/prow/guide/1494855912_g.htm
  • Table 1 Text
    ... 0.02 123 "by cluster,freq" 8p22 lipoprotein lipase 2 rs328 LPL 4023 8 19864004 ... 1458 0.14 123 "by cluster,freq" 8p22 lipoprotein lipase 3 rs328 LPL 4023 8 ...
    icr.ac.uk/research/research_sections/.../2841.txt
  • Michael Tanner - research profile on BiomedExperts
    Michael Tanner - research profile on BiomedExperts:Erythrocyte Anion Exchange Protein 1, Erythrocyte Membrane, Glycophorin, Erythrocytes, Amino Acid Sequence, ...
    www.biomedexperts.com/Profile.bme/1668257/Michael_Tanner
  • Band 3 mutations, renal tubular acidosis and South-East Asian ...
    Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in ... anion exchangerband 3 (AE1, SLC4A1) gene associated with distalrenal ...
    www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1221222
  • SLC4A1 Gene - GeneCards | B3AT Protein | B3AT Antibody
    Complete information for SLC4A1 gene (protein-coding), solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego ...
    www.genecards.org/cgi-bin/previous/carddisp.pl?gene=SLC4A1

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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