CYP1B1 A119S - GET-Evidence

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

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Curation:
Currentness:

CYP1B1 A119S

(CYP1B1 Ala119Ser)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(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

  • A @ chr2:38302177: 33.9% (3383/9988) in EVS
  • A @ chr2:38155680: 15.8% (6/38) in GET-Evidence
  • Frequency shown in summary reports: 33.9% (3383/9988)

Publications
 

Genomes
 

 

 

 

 

 

 

 

 

 

 

 

 

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr2:38155681

 

GS19834 - var-GS19834-1100-36-ASM
hom A @ chr2:38155681

 

GS21767 - var-GS21767-1100-36-ASM
het A @ chr2:38155681

 

NA12878

 

Other external references
 

    dbSNP
  • rs1056827
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (167 hits -- see all)
  • CYP1B1
    CYP1B1*2. CYP1B1.2. 142C>G; 355G>T. R48G; A119S. Stoilov et al, 1998. McLellan et al, 2000 ... A119S; L432V; A443G. Aklillu et al, 2002. CYP1B1*8. CYP1B1*9. CYP1B1*10 ...
    www.cypalleles.ki.se/cyp1b1.htm
  • BioMed Central | Full text | Multilocus analysis of SNP and ...
    Individuals homozygous for the variant alleles in the HSD17β (A3T), CYP1B1 A119S, and COMT1 had significantly higher levels of sex hormone binding ...
    www.biomedcentral.com/1471-2164/7/5
  • [A novel mutation of CYP1B1 gene in primary congenital ...
    Huang JF, Zhou J, Wang H, Chen D, Zeng LP, Tong JB, Xia XB, Hu ZM ABSTRACT: OBJECTIVE: To investigate the distribution of the CYP1B1 (Cytochrome P450, family 1, ...
    labmeeting.com/paper/29556979/huang-2009-a-novel-mutation-of-cyp1b1...
  • BMC Genomics
    One SNP in CYP19, 3UTR, two SNPs in CYP1B1 (R48G and A119S) and one in CYP1A1 (T461N) were significantly differently distributed between ...
    www.biomedcentral.com/content/pdf/1471-2164-7-5.pdf
  • Globally, CYP1B1 mutations in primary congenital glaucoma are ...
    METHODS: Five intragenic single-nucleotide polymorphisms in CYP1B1-R48G, A119S, V432L, D449D, and N453S-were used to generate haplotype data from ...
    www.ncbi.nlm.nih.gov/pubmed/16384942
  • CYP1B1 variants are associated with prostate cancer in non ...
    CYP1B1 variants are associated with prostate cancer in non-Hispanic and Hispanic Caucasians. ... the TT genotype for 366G/T(A119S) increased the risk for PCa significantly (OR ...
    www.ashg.org/genetics/ashg07s/f10743.htm
  • Globally, CYP1B1 Mutations in Primary Congenital Glaucoma Are ...
    CYP1B1. —R48G, A119S, V432L, D449D, and N453S—were used. to generate haplotype data from ... short tandem repeat (STR) loci on chromosome 2, around the CYP1B1 ...
    www.iovs.org/cgi/reprint/47/1/43.pdf
  • Multilocus analysis of SNP and metabolic data within a given ...
    Multilocus analysis of SNP and metabolic data within a given pathway. ... CYP19, 3UTR, two SNPs in CYP1B1 (R48G and A119S) and one in CYP1A1 (T461N) were ...
    www.ncbi.nlm.nih.gov/pubmed/16412218
  • Glaucoma-Associated CYP1B1 Mutations Share Similar Haplotype ...
    The entire coding region of CYP1B1 was screened by resequencing in 224 unrelated cases of ... polymorphisms (SNPs) in CYP1B1 (–13T>C, R48G, A119S, V432L, D449D, and N453S) ...
    www.iovs.org/cgi/content/full/48/12/5439
  • Dissertations from Karolinska Institutet - Published by ...
    The CYP1B1.2 enzyme contains the two linked amino acid substitutions R48G and A119S compared to CYP1B1.1. To ... It was found that CYP1B1.1. and CYP1B1.2 share very similar ...
    diss.kib.ki.se/2000/91-628-3924-1

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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