SLC4A1 K56E - GET-Evidence

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

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(SLC4A1 Lys56Glu)

Short summary


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


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)



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

  • rs5036
  • 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
  • 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 ...
  • 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, ...
  • 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. ...
    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 ...
  • 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 ...
  • 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, ...
  • 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 ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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