rs374259530
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients.
|
10888601 |
2000 |
rs374259530
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency.
|
22180458 |
2012 |
rs374259530
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.
|
18524658 |
2008 |
rs763542069
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients.
|
12368987 |
2002 |
rs763542069
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
In vitro hybridization and separation of hybrids of human adenylosuccinate lyase from wild-type and disease-associated mutant enzymes.
|
21210713 |
2011 |
rs763542069
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants.
|
19405474 |
2009 |
rs763542069
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency.
|
20127976 |
2010 |
rs777821034
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs1036185928
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs119450945
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1569096551
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs750614500
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs373458753
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients.
|
10888601 |
2000 |
rs373458753
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
|
23519317 |
2013 |
rs373458753
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of new mutations in the adenylosuccinate lyase gene associated with impaired enzyme activity in lymphocytes and red blood cells.
|
9545543 |
1998 |
rs373458753
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.
|
10090474 |
1999 |
rs373458753
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A mutation in adenylosuccinate lyase associated with mental retardation and autistic features.
|
1302001 |
1992 |
rs373458753
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants.
|
19405474 |
2009 |
rs373458753
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients.
|
12368987 |
2002 |
rs373458753
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Adenylosuccinase deficiency presenting with epilepsy in early infancy.
|
9266401 |
1997 |
rs373458753
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Interestingly, unlike other mutations leading to ADSL deficiency, the R303C mutation has been suggested to more significantly affect the enzyme's ability to catalyze the conversion of succinyladenosine monophosphate than that of SAICAR to their respective products.
|
22812634 |
2012 |
rs373458753
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.
|
10958654 |
2000 |
rs373458753
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients.
|
12833398 |
2003 |
rs119450940
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
|
23519317 |
2013 |
rs119450941
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
|
23519317 |
2013 |