NM_000429.3(MAT1A):c.914T>C (p.Leu305Pro) AND Hepatic methionine adenosyltransferase deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 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:: RCV000001264.3

Allele description [Variation Report for NM_000429.3(MAT1A):c.914T>C (p.Leu305Pro)]

NM_000429.3(MAT1A):c.914T>C (p.Leu305Pro)

Gene:

MAT1A:methionine adenosyltransferase 1A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.3

Genomic location:

Preferred name:

NM_000429.3(MAT1A):c.914T>C (p.Leu305Pro)

HGVS:

NC_000010.11:g.80275054A>G
NG_008083.1:g.19625T>C
NM_000429.3:c.914T>CMANE SELECT
NP_000420.1:p.Leu305Pro
NC_000010.10:g.82034810A>G
Q00266:p.Leu305Pro

Protein change:

L305P; LEU305PRO

Links:

UniProtKB: Q00266#VAR_006938; OMIM: 610550.0004; dbSNP: rs118204004

NCBI 1000 Genomes Browser:

rs118204004

Molecular consequence:

NM_000429.3:c.914T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hepatic methionine adenosyltransferase deficiency
Synonyms:: MAT I/III DEFICIENCY; Isolated Persistent Hypermethioninemia; Methionine adenosyltransferase deficiency; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009607; MeSH: C564683; MedGen: C0268621; Orphanet: 168598; OMIM: 250850

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000021414	OMIM	no assertion criteria provided	Pathogenic (Oct 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

SCV000021414

OMIM

no assertion criteria provided

Pathogenic
(Oct 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

Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency.

Ubagai T, Lei KJ, Huang S, Mudd SH, Levy HL, Chou JY.

J Clin Invest. 1995 Oct;96(4):1943-7.

PubMed [citation]

PMID:: 7560086
PMCID:: PMC185831

Details of each submission

From OMIM, SCV000021414.2

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

Description

In cultured fibroblasts from a patient with MAT deficiency (250850), Ubagai et al. (1995) identified compound heterozygosity for 2 mutations in the MAT1A gene: a 914T-C transition in exon 7 resulting in a leu305-to-pro (L305P) substitution, and I322M (610550.0001). Hepatic MAT activity was decreased whereas fibroblast MAT activity was normal.

#	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: Apr 20, 2024

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