SLC3A1 M467K - GET-Evidence

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

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Curation:
Currentness:

SLC3A1 M467K

(SLC3A1 Met467Lys)


Short summary

 

Variant evidence
Computational 2

Other variants within this gene appear to cause the disease as well. Calonge et al. mention that M467 is a highly conserved residue.

See Calonge MJ et al. 1994 (8054986), unpublished research (below).

Functional

See unpublished research (below).

Case/Control

OR = 17.9, but significance is weak (p = 0.059).

See unpublished research (below).

Familial

See unpublished research (below).

 
Clinical importance
Severity -
Treatability 4

In patients with symptoms standard treatment involves adequate hydration and dietary modification and, if these are insufficient, chelation therapy.

See unpublished research (below).

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

 

Total cases/controls case+ case– control+ control– p-value odds ratio
Cystinuria
1 9 0 160 0.0588

 

Allele frequency

  • None available.

Publications
 

Calonge MJ, Gasparini P, Chillarón J, Chillón M, Gallucci M, Rousaud F, Zelante L, Testar X, Dallapiccola B, Di Silverio F, et al. Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nat Genet. 1994 Apr;6(4):420-5. PubMed PMID: 8054986.

In a screen for missense mutations in rBAT in five cells lines derived from patients, one was heterozygous for this mutation. This individual was a compound heterozygote in the gene, also carrying a L678P mutation. None of 31 other cystinuric chromosomes had this mutation, and none of 160 control chromosomes had it. Case positive: 1, case negative: 9, control positive: 0, control negative: 160.

Cases/controls case+ case– control+ control– p-value odds ratio
Cystinuria
1 9 0 160 0.0588

 

Genomes
 

Other external references
 

    OMIM
  • Cystinuria
    www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104614
    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (43 hits -- see all)
  • Balkan Journal of Medical Genetics
    ... in the SLC3A1 gene (T216M, C242R, R365L, 1136+ 2TC, G398R, R456C, M467T, M467K, ... describes two novel mutations in the SLC3A1 gene (C242R and L573X) and three ...
    www.bjmg.edu.mk/record.asp?subrecordid=1025
  • 12 (1), 2009 FIVE NOVEL MUTATIONS IN CYSTINURIA GENES SLC3A1 ...
    SLC3A1; type B, caused by mutations in both alleles. of SLC7A9 and ... the SLC3A1 gene (T216M, C242R, R365L, 1136+2TC, G398R, R456C, M467T, M467K, S547W, L573X) ...
    www.bjmg.edu.mk/UploadedImages/pdf/BJMG_09 vol.12 1.2009.pdf
  • Kidney International - Cystinuria in children: Distribution ...
    Kidney International aims to inform the renal researcher and practicing nephrologists on ... families were analyzed by mutational analysis of the genes SLC3A1 and the SLC7A9. ...
    www.nature.com/ki/journal/v62/n4/full/4493208a.html
  • ICF Research Library - Cystinuria
    Two of the genes responsible for the disorder, SLC3A1 and SLC7A9, have been identified. ... The normal SLC3A1 gene appears to encode a 663-amino acid heavy ...
    www.cystinuria.org/resources/library/05_09_23-Cystinuria
  • Recurrent Nephrolithiasis in a 9-Year-Old Child: Questions
    Questions: Based on history, physical exam, and lab findings, what's the diagnosis? ... Strologo L, et al. Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: ...
    www.medscape.com/viewarticle/545525_2
  • Recurrent Nephrolithiasis in a 9-Year-Old Child: Clinical History
    Clinical History: Based on history, physical exam, and lab findings, what's the diagnosis? ... L, et al. Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: ...
    www.medscape.com/viewarticle/545525
  • Distinct classes of trafficking rBAT mutants cause the type I ...
    Department of Biochemistry and Molecular Biology, University of Barcelona, ... extracellular domain (T216M, R365W, M467K and M467T) efficiently assembled with ...
    www.ncbi.nlm.nih.gov/pubmed/18332091
  • The Genetics of Heteromeric Amino Acid Transporters ...
    In 1994 it was demonstrated that mutations in SLC3A1 cause type I cystinuria (11) ... SLC3A1 mutations may also affect transport properties of the holotransporter b0, ...
    physiologyonline.physiology.org/cgi/content/full/20/2/112
  • New insights into cystinuria: 40 new mutations, genotype ...
    ... Cystinuria Consortium were screened for mutations in SLC3A1 (type A) and ... trafficking defect in type I cystinuria rBAT mutants M467T and M467K. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1735913/?tool=pmcentrez
  • Manuel Palacín - research profile on BiomedExperts
    Manuel Palacín - research profile on BiomedExperts:Basic Amino Acid Transport Systems, Cystinuria, Rats, Monosaccharide Transport Proteins, Neutral Amino Acid ...
    biomedexperts.com/Profile.bme/1073867/Manuel_Palac%C3%ADn

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

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