NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) AND Mucopolysaccharidosis, MPS-I-H/S

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 1995
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:: RCV000012694.29

Allele description [Variation Report for NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)]

NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)

Gene:

IDUA:alpha-L-iduronidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.3

Genomic location:

Preferred name:

NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)

HGVS:

NC_000004.12:g.1003102T>C
NG_008103.1:g.21106T>C
NM_000203.4(IDUA):c.1469T>C
NM_000203.5:c.1469T>CMANE SELECT
NM_001363576.1:c.1073T>C
NP_000194.2:p.Leu490Pro
NP_000194.2:p.Leu490Pro
NP_001350505.1:p.Leu358Pro
LRG_1277t1:c.1469T>C
LRG_1277:g.21106T>C
LRG_1277p1:p.Leu490Pro
NC_000004.11:g.996890T>C
NM_000203.3:c.1469T>C
NM_000203.4(IDUA):c.1469T>C
NM_000203.4:c.1469T>C
NM_000203.5:c.1469T>C
NR_110313.1:n.1557T>C
P35475:p.Leu490Pro

Protein change:

L358P; LEU490PRO

Links:

UniProtKB: P35475#VAR_003374; OMIM: 252800.0012; dbSNP: rs121965027

NCBI 1000 Genomes Browser:

rs121965027

Molecular consequence:

NM_000203.5:c.1469T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001363576.1:c.1073T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_110313.1:n.1557T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

Unknown function

Condition(s)

Name:: Mucopolysaccharidosis, MPS-I-H/S
Synonyms:: MUCOPOLYSACCHARIDOSIS TYPE IH/S
Identifiers:: MONDO: MONDO:0011759; MedGen: C0086431; OMIM: 607015

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000032929	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 1995)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000032929

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 1995)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S).

Tieu PT, Bach G, Matynia A, Hwang M, Neufeld EF.

Hum Mutat. 1995;6(1):55-9.

PubMed [citation]

PMID:: 7550232

Details of each submission

From OMIM, SCV000032929.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Tieu et al. (1995) demonstrated that the Hurler/Scheie (607015) cell line GM00512 had a T-to-C transition in codon 490, converting leucine (CTG) to proline (CCG), and creating a SmaI site. No alpha-L-iduronidase activity was detected when cDNA containing the L490P mutation was expressed in COS-1 cells. There was no evidence for heterozygosity either in the genomic sequence or in the restriction digest, suggesting that the mutation was present in homozygous form. However, hemizygosity, because of either deletion of the IDUA gene on 1 chromosome or uniparental disomy, had not been ruled out. The GM00512 cell line was derived from a patient of Asian Indian origin, whose parents were not known to be consanguineous. Homozygosity had been observed previously only in consanguineous families or for the most common mutations, W402X (252800.0001) and Q70X (252800.0002). It is therefore possible that the L490P mutation is relatively common among Indian MPS I patients.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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