CYP21A2 H62L - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

CYP21A2 H62L

(CYP21A2 His62Leu)


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 (48 hits -- see all)
  • p.H62L, a Rare Mutation of the CYP21 Gene Identified in Two ...
    p.H62L, a Rare Mutation of the CYP21 Gene Identified in Two Forms of 21-Hydroxylase Deficiency ... CYP21A2 cDNA constructs containing either p.P453S or p.H62L encoded ...
    jcem.endojournals.org/cgi/content/full/93/5/1901
  • Inhibition of CYP21A2 Enzyme Activity Caused by Novel ...
    Inhibition of CYP21A2 Enzyme Activity Caused by Novel Missense ... The degree of enzyme impairment caused by p.H62L alone or combined to p.P453S was also ...
    jcem.endojournals.org/cgi/content/full/93/6/2416
  • CYP21A2
    CYP21A2*7. 30 kb deletion including 3' of CYP21A1P and 5' of CYP21A2. 30 kb deletion ... P30L; H62L. NC. Pinto et al 2003. CYP21A2*76. 1121delC. 549delC. D183Frameshift. SW ...
    www.cypalleles.ki.se/cyp21.htm
  • Reference SNP(refSNP) Cluster Report: rs9378252
    Database of Single Nucleotide Polymorphism ... Annotate and Submit Batch Data with Clinical Impact. SNP SUBMISSION. Quick Start. How to Submit. Handle Request ...
    www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=9378252
  • Molecular Model of Human CYP21 Based on Mammalian CYP2C5 ...
    Inhibition of CYP21A2 Enzyme Activity Caused by Novel Missense Mutations Identified in Brazilian and ... p.H62L, a Rare Mutation of the CYP21 Gene Identified in Two Forms of 21 ...
    mend.endojournals.org/cgi/content/abstract/20/11/2946
  • Low frequency of the CYP21A2 deletion in ethnic Chinese
    Low frequency of the CYP21A2 deletion in ethnic Chinese. ... This indicates that H62L probably plays the role of the non-classical form in our CAH patients. ...
    scribd.com/doc/6928944/Low-frequency-of-the-CYP21A2-delet...
  • NEJM -- Congenital Adrenal Hyperplasia
    Duplications of the Functional CYP21A2 Gene Are Primarily Restricted ... p.H62L, a Rare Mutation of the CYP21 Gene Identified in Two Forms of 21-Hydroxylase ...
    content.nejm.org/cgi/content/short/349/8/776
  • A novel 9-bp insertion detected in steroid 21-hydroxylase ...
    Sequencing of the entire CYP21A2 gene revealed a novel insertion (duplication) ... The CYP21A2 gene is part of a complicated structure, referred to as the RCCX ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2653521
  • Journal of Biomedical Science | Full text | A novel 9-bp ...
    Sequencing of the entire CYP21A2 gene revealed a novel insertion (duplication) ... The CYP21A2 gene is part of a complicated structure, referred to as the RCCX ...
    www.jbiomedsci.com/content/16/1/3
  • Molecular Model of Human CYP21 Based on Mammalian CYP2C5 ...
    ... hormone cortisol in the adrenal cortex (CYP11A1, CYP11B1, CYP17, and CYP21A2) ... the mitochondria, whereas CYP17 and CYP21A2 are microsomal, belonging to the ...
    mend.endojournals.org/cgi/content/full/20/11/2946

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in