SLC3A1 L678P - GET-Evidence

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

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Curation:
Currentness:

SLC3A1 L678P

(SLC3A1 Leu678Pro)


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: 0.589 (possibly damaging)
    Web search results (6 hits -- see all)
  • Mendelian Inheritance in Man Document Reader
    ... YAC containing the SLC3A1 gene or with SLC3A1-specific PCR-amplified ... a compound heterozygote for this and an L678P mutation (104614.0003) ...
    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 ...
    I-Cystinurie, die durch Mutationen im SLC3A1-Gen hervorgerufen wird, einen ... L678P. c2033T/C, Leucin/Prolin. 10. Calonge et al. 1994. c entspricht der ...
    darwin.bth.rwth-aachen.de/opus3/.../pdf/Botzenhart_Elke.pdf
  • Type II- 95%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT ... Q09470 R204H 199 VAR_020051 PKC (0.539) Polymorphism (dbSNP:rs2229000) SLC3A1 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • Type II- 97%
    ... PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed kinase ... Polymorphism (dbSNP:rs2805910) 15164054 SLC3A1 Q07837 R181Q 175 VAR_011421 PDGFR ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_97.txt
  • METABOLIC DISORDERS AND MOLECULAR BACKGROUND OF UROLITHIASIS ...
    L678P. Leu. 678. Pro. T. 2030. C. F648S. Phe. 648. Ser. T. 1943. C. Stop codon. R270X. Arg Stop at 270. C ... 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 = 7
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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