CYP21A2 G375S - GET-Evidence

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

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Curation:
Currentness:

CYP21A2 G375S

(CYP21A2 Gly375Ser)


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
 

    Web search results (10 hits -- see all)
  • CYP21A2
    30 kb deletion including 3' of CYP21A1P and 5' of CYP21A2 ... 1123G>A. G375S. SW <1%/<1% Lajic et al 2002. CYP21A2*73. 2453C>T. 1222C>T. R408C. SW. Billerbeck ...
    www.cypalleles.ki.se/cyp21.htm
  • Molecular Model of Human CYP21 Based on Mammalian CYP2C5 ...
    lase; CYP21A2, CYP21, the gene encoding steroid 21-hy- droxylase; ... and CYP11B1 are located in the mitochon- dria, whereas CYP17 and CYP21A2 are microsomal, ...
    mend.endojournals.org/cgi/reprint/20/11/2946.pdf
  • Novel Mutations in CYP21 Detected in Individuals with ...
    The other mutation, G375S, was detected in a young woman with signs of ... whereas G375S was found in a doubly mutated allele (G375S+P453S) in ...
    jcem.endojournals.org/cgi/content/full/87/6/2824
  • Type II- 95%
    ... HSD11B2 P80365 R186C 184 VAR_015637 PKC (0.550) AME 7593417 9661590 PKLR P30613 ... somatic mutation 10918388 CYP21A2 P08686 G375S 376 VAR_026076 JakA (0. ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • Type II- 97%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... G375S 374 VAR_026076 gCK1 (0.561) hyperandrogenism, due to 21-hydroxylase ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeII-_97.txt
  • Novel Mutations in CYP21 Detected in Individuals with ...
    The other mutation, G375S, was detected in a young woman with signs of ... Inhibition of CYP21A2 Enzyme Activity Caused by Novel Missense Mutations Identified in Brazilian and ...
    jcem.endojournals.org/cgi/content/abstract/87/6/2824
  • Molecular Model of Human CYP21 Based on Mammalian CYP2C5 ...
    List of Known Mutants of Human CYP21A2 Together with Data from the Molecular Models ... G375S. –2806. 0.71. –0.4. 20.4. 27.3. 30.9. loop. Sharp turn where only glycine fits. 87. R408C ...
    mend.endojournals.org/cgi/content/full/20/11/2946/T4
  • OMIM: 201910
    CYP21A2, the adjacent complement C4A gene, and parts of the flanking genes ... et al. (2007) hypothesized that duplicated CYP21A2 genes could predispose for de ...
    www.genome.jp/dbget-bin/www_bget?mim:201910
  • Functional and Structural Studies on CYP21 MUTANTS in ...
    The gene encoding 21-hydroxylase, CYP21A2 (CYP21), is located in a locus with a ... G375S. GlyÆSer. 1123GÆA. G375S+P435S /WT. Female. Hyperandrogenism at. 17 ...
    diss.kib.ki.se/2005/91-7140-529-1/thesis.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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