SLC3A1 P615T - GET-Evidence

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

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Curation:
Currentness:

SLC3A1 P615T

(SLC3A1 Pro615Thr)


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: 0.996 (probably damaging)
    Web search results (5 hits -- see all)
  • Mendelian Inheritance in Man Document Reader
    Analysis of the genomic structure and organization of the SLC3A1 gene was also reported by Pras et al. (1996) ... et al. (1994) demonstrated a P615T mutation in the SLC3A1 gene. ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+104614
  • OMIM: 104614
    They were able to demonstrate homogeneity for linkage to SLC3A1 in type I/I families, whereas types I/III and ... et al. (1994) demonstrated a P615T mutation in the SLC3A1 gene. ...
    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
  • Type III 95%
    ... loss of activity 10189220 14695532 SLC3A1 Q07837 P615T 623 VAR_011430 AGC (0. ... 16959974 SLC3A1 Q07837 R452W 455 VAR_011425 AGC (0.822) gCK1 (0.607) ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeIII_95.txt
  • METABOLIC DISORDERS AND MOLECULAR BACKGROUND OF UROLITHIASIS ...
    P615T. Pro. 615. Thr. C. 1843. A. Y582H. Tyr. 582. His. T. 1744. C. T652R. Thr. 652. Arg. C. 1932. G. L678P ... 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 = 4
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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