SLC3A1 R181Q - GET-Evidence

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

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Curation:
Currentness:

SLC3A1 R181Q

(SLC3A1 Arg181Gln)


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: 0.579 (possibly damaging)
    Web search results (11 hits -- see all)
  • 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
  • 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
  • Type II- 97%
    ... (dbSNP:rs2805910) 15164054 SLC3A1 Q07837 R181Q 175 VAR_011421 PDGFR (0. ... (0.730) Polymorphism (dbSNP:rs5005) SLC3A1 Q07837 R584T 582 VAR_038207 PDGFR (0. ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_97.txt
  • 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
  • Type III 95%
    ... Polymorphism (dbSNP:rs3865205) 9920877 ST5 P78524 K316N 322 VAR_027101 STE20 (0. ... 519) IGHD IB 12655557 SLC3A1 Q07837 R181Q 175 VAR_011421 JakA (0.616) ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_95.txt
  • Lam, CW (C-W)
    Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with ... The other three SLC3A1 mutations (IVS6+2T>C, R181Q and R365W) have been described previously. ...
    lib.bioinfo.pl/auid:4946598
  • Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in ...
    Two genes responsible for this, SLC3A1 and SLC7A9, are known. ... The other three SLC3A1 mutations (IVS6+2T>C, R181Q and R365W) have been described previously. ...
    tripdatabase.com/doc/566779-Heterogeneous-mutations-in-the-SLC3A1...
  • Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in ...
    Cystinuria is a recessively inherited aminoaciduria that leads to recurrent urolithiasis. ... The other three SLC3A1 mutations (IVS6+2T>C, R181Q and R365W) have been described ...
    www.medscape.com/medline/abstract/16374432
  • Cheng, CW (C-W)
    Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria. ... The other three SLC3A1 mutations (IVS6+2T>C, R181Q and R365W) have been described ...
    lib.bioinfo.pl/auid:2324946
  • METABOLIC DISORDERS AND MOLECULAR BACKGROUND OF UROLITHIASIS ...
    R181Q. Arg. 181. Gln. G. 542. A. T216M. Thr. 216. Met. C. 647. T. E268K. Glu. 216. Lys. G. 802. A. T341A. Thr ... 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 = 0
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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