SLC3A1 T652R - GET-Evidence

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

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Curation:
Currentness:

SLC3A1 T652R

(SLC3A1 Thr652Arg)


Short summary

 

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

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    OMIM
  • Cystinuria
    www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=104614
    PolyPhen-2
  • Score: 0.002 (benign)
    Web search results (4 hits -- see all)
  • Mendelian Inheritance in Man Document Reader
    ... a YAC containing the SLC3A1 gene or with SLC3A1-specific PCR-amplified genomic fragments. ... transcription and RT-PCR to isolate the SLC3A1 gene from patients with cystinuria. ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+104614
  • OMIM: 104614
    Parvari et al. (2001) identified SLC3A1 as one of the genes affected by a ... YAC containing the SLC3A1 gene or with SLC3A1-specific PCR-amplified ...
    www.genome.jp/dbget-bin/www_bget?omim+104614
  • Mutationsspektrum in den Genen SLC3A1 und SLC7A9 bei ...
    Etablierung der PCR-Bedingungen für das SLC3A1- und SLC7A9-Gen .48 ... I-Cystinurie, die durch Mutationen im SLC3A1-Gen hervorgerufen wird, einen ...
    darwin.bth.rwth-aachen.de/opus3/.../pdf/Botzenhart_Elke.pdf
  • METABOLIC DISORDERS AND MOLECULAR BACKGROUND OF UROLITHIASIS ...
    T652R. Thr. 652. Arg. C. 1932. G. L678P. Leu. 678. Pro. T. 2030. C. F648S. Phe. 648. Ser. T. 1943. C. Stop ... SLC3A1 gene is linked to type I but not to type III cystinuria. ...
    www.ecmjournal.org/journal/smi/pdf/smi99-30.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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