AMPD1 Q12X - GET-Evidence



(AMPD1 Gln12Stop)

Short summary

Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly.

Variant evidence
Computational 2

Nonsense mutation is highly disruptive.

Functional -
Case/Control 5

2 * 10^-11

See Morisaki T et al. 1992 (1631143).

Familial -
Clinical importance
Severity 2
Treatability 1
Penetrance 4


Low clinical importance, Likely pathogenic

(The "low clinical importance, likely" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • A @ chr1:115236057: 9.3% (1001/10756) in EVS
  • A @ chr1:115037579: 5.6% (7/126) in GET-Evidence
  • Frequency shown in summary reports: 9.3% (1001/10756)


Morisaki T, Gross M, Morisaki H, Pongratz D, Zöllner N, Holmes EW. Molecular basis of AMP deaminase deficiency in skeletal muscle. Proc Natl Acad Sci U S A. 1992 Jul 15;89(14):6457-61. PubMed PMID: 1631143; PubMed Central PMCID: PMC49520.

Out of eleven patients studied, all had the Q12X and P48L mutations. In 59 caucasians, 10 were heterozygous and 2 homozygous for the mutation, and in 13 african americans 3 were heterozygous and 1 was homozygous. Counting homozygous individuals vs. others in the combined data, this is: case+: 11, case-: 0, control+: 3, control-: 69. This is extremely significant with a Fisher’s exact test (2 * 10^-11).


hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr1:115236057


hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr1:115236057



huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr1:115236057


huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr1:115236057


huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het A @ chr1:115236057


GS06985 - var-GS06985-1100-36-ASM
het A @ chr1:115037580


GS07357 - var-GS07357-1100-36-ASM
het A @ chr1:115037580


Other external references

  • rs17602729
    Web search results (84 hits -- see all)
  • WikiGenes - AMPD1 - adenosine monophosphate deaminase 1...
    We conclude that the Q12X mutation in AMPD1 may result in a mild ... A common variant of the AMPD1 gene predicts improved survival in patients with ischemic ...
    Q12X and two statin tolerant controls were compound heterozygotes for ... 1. The number of patients with AMPD1 mutations (Q12X and K287I) in the statin ...
  • AMPD1 - adenosine monophosphate deaminase 1 (isoform M)
    AMPD1 C34T genotype was determined using 5' exonuclease chemistry. ... We conclude that the Q12X mutation in AMPD1 may result in a mild clinical effect; ...
    Abbreviations: ACE, angiotensin converting enzyme; AMPD1, myoadeny ... gote for the Q12X mutation in the AMPD1 gene was. found in each of the groups studied ...
  • Genetics of Inflammatory Bowel Disease: Population Aspects.
    BioInfoBank Library :: Genetics of Inflammatory Bowel Disease: Population Aspects. Familial association between type 1 diabetes and other autoimmune and related ...
  • AMPD1 - adenosine monophosphate deaminase 1 (isoform M ...
    The AMPD1 gene provides instructions for producing an enzyme called adenosine ... How are changes in the AMPD1 gene related to health conditions? ...
  • WikiGenes - PPL - periplakin
    The world's first wiki where authorship really matters. Due credit and reputation for ... We conclude that the Q12X mutation in AMPD1 may result in a mild clinical effect; ...
  • Variation in the Gene for Muscle-Specific AMP Deaminase Is ...
    also genotyped missense variants known to be associated with altered AMPD1 ... base ( Q12X was incompatible with our geno ...
  • Haplotype analysis of human AMPD1 gene: origin of common ...
    Haplotype analysis of human AMPD1 gene: origin of common mutant allele ... 2, Q12X) and C143T (exon 3, P48L) of the AMPD1 gene in almost all cases.1,2 ...
  • HNPCC RSS Page 5
    Login / Register for free to get access to My MedWorm. HNPCCThis is an ... study (AKAP9 M463I, DKK3 G335R, AMPD1 Q12X, LIPC L356F, PSMB9 V32I, THBS1 N700S, ..."Lynch+syndrome"+...

Other in silico analyses

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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