SLC4A1 K56E - GET-Evidence

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

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Curation:
Currentness:

SLC4A1 K56E

(SLC4A1 Lys56Glu)


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

  • C @ chr17:42338945: 5.0% (533/10758) in EVS
  • C @ chr17:39694470: 7.8% (10/128) in GET-Evidence
  • Frequency shown in summary reports: 5.0% (533/10758)

Publications
 

Genomes
 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het C @ chr17:42338945

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het C @ chr17:42338945

 

GS18940 - var-GS18940-1100-36-ASM
hom C @ chr17:39694471

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr17:39694471

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr17:39694471

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr17:39694471

 

GS19735 - var-GS19735-1100-36-ASM
het C @ chr17:39694471

 

Other external references
 

    dbSNP
  • rs5036
    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 (13 hits -- see all)
  • Artemisa
    G199A and NcoI of ANK1 gene, and Memphis I of SLC4A1 gene, as ... El polimorfismo Memphis I (K56E) del gen SLC4A1 ha sido. observado en varias poblaciones ...
    www.medigraphic.com/pdfs/gaceta/gm-2006/gm065n.pdf
  • Molecular mechanisms of autosomal dominant and recessive ...
    molecular mechanisms associated with SLC4A1 mutations resulting in these ... SLC4A1 located on chromosome 17q21-q22 encodes both. erythroid (eAE1, ...
    www.libpubmedia.co.uk/MedJ-Issues/Issue-2/Yenchitsomanus.pdf
  • Cluster of Differentiation
    band 3 (CD233) Review. This document is an authoritative, peer-reviewed short summary of 30 categories of information on the band 3 (CD233) molecule. ...
    www.sciencegateway.org/resources/prow/guide/1494855912_g.htm
  • HUMAN ANION EXCHANGER1 MUTATIONS AND DISTAL RENAL TUBULAR ...
    The human anion exchanger 1 (AE1 or SLC4A1) gene encodes anion exchanger 1 (or ... glutamic acid at position 56 (K56E), band 3. Memphis I, is invariably ...
    www.tm.mahidol.ac.th/seameo/2003_34_3/33-3087.pdf
  • 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
  • dbRBC - Blood Group Antigen Gene Mutation Database
    HLA, MHC, Human Leukocyte antigen, Major Histocompatibility Complex, database, Allele, Sequence, Antropology, Disease Association, HCT, Hematopoetic Stem Cell, ...
    ncbi.nlm.nih.gov/projects/gv/rbc/...&system=diego
  • Gaceta médica de México - Análisis de los polimorfismos G199A ...
    Key words: Hereditary Spherocytosis, gene ANK1 polymorphisms, gene SLC4A1 polymorphisms. Introducción ... El polimorfismo Memphis I (K56E) del gen SLC4A1 ha sido observado en ...
    scielo.org.mx/scielo.php?...&lng=es&nrm=iso&tlng=es
  • Novel AE1 mutations in recessive distal renal tubular ...
    BioInfoBank Library :: Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A. Localization of a gene for ...
    lib.bioinfo.pl/pmid:9854053

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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