U.S. flag

An official website of the United States government

NM_000035.4(ALDOB):c.548_553del (p.Leu183_Val184del) AND Hereditary fructosuria

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 1999
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000000503.2

Allele description

NM_000035.4(ALDOB):c.548_553del (p.Leu183_Val184del)

Gene:
ALDOB:aldolase, fructose-bisphosphate B [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9q31.1
Genomic location:
Preferred name:
NM_000035.4(ALDOB):c.548_553del (p.Leu183_Val184del)
HGVS:
  • NC_000009.12:g.101426628_101426633del
  • NG_012387.1:g.14149_14154del
  • NG_012387.1:g.14150_14155del
  • NM_000035.4:c.548_553del
  • NP_000026.2:p.Leu183_Val184del
  • LRG_1244t1:c.548_553del
  • LRG_1244:g.14150_14155del
  • LRG_1244p1:p.Leu183_Val184del
  • NC_000009.11:g.104188910_104188915del
  • NG_012387.1:g.14149_14154del
Links:
OMIM: 612724.0011; dbSNP: rs387906226
NCBI 1000 Genomes Browser:
rs387906226
Molecular consequence:
  • NM_000035.4:c.548_553del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Hereditary fructosuria
Synonyms:
Hereditary fructose intolerance; Fructose-1-phosphate aldolase deficiency; Aldolase B deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009249; MedGen: C0016751; Orphanet: 469; OMIM: 229600; Human Phenotype Ontology: HP:0005973

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000020652OMIM
no assertion criteria provided
Pathogenic
(May 1, 1999) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Novel six-nucleotide deletion in the hepatic fructose-1,6-bisphosphate aldolase gene in a patient with hereditary fructose intolerance and enzyme structure-function implications.

Santamaria R, Vitagliano L, Tamasi S, Izzo P, Zancan L, Zagari A, Salvatore F.

Eur J Hum Genet. 1999 May-Jun;7(4):409-14.

PubMed [citation]
PMID:
10352930

Details of each submission

From OMIM, SCV000020652.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 6-year-old patient with hereditary fructose intolerance (229600), Santamaria et al. (1999) detected a 6-bp deletion in exon 6 of the aldolase B gene that led to elimination of 2 amino acid residues, leu182 and val183, but left the message in-frame. On the other allele, the patient carried the asn334-to-lys mutation (see 612724.0006). The 3-dimensional structural alterations induced in the enzyme by the 6-bp deletion were elucidated by molecular graphics analysis using crystal structure of the rabbit muscle aldolase as a reference model. These studies showed that the elimination of leu182 and val183 perturbs the correct orientation of adjacent catalytic residues such as lys146 and glu187.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 18, 2020