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NM_000071.3(CBS):c.1616T>C (p.Leu539Ser) AND Homocystinuria, pyridoxine-responsive

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 1997
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:
RCV000000146.3

Allele description [Variation Report for NM_000071.3(CBS):c.1616T>C (p.Leu539Ser)]

NM_000071.3(CBS):c.1616T>C (p.Leu539Ser)

Gene:
CBS:cystathionine beta-synthase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_000071.3(CBS):c.1616T>C (p.Leu539Ser)
HGVS:
  • NC_000021.9:g.43053920A>G
  • NG_008938.1:g.27011T>C
  • NM_000071.3:c.1616T>CMANE SELECT
  • NM_001178008.3:c.1616T>C
  • NM_001178009.3:c.1616T>C
  • NM_001320298.2:c.1616T>C
  • NM_001321072.1:c.1301T>C
  • NP_000062.1:p.Leu539Ser
  • NP_000062.1:p.Leu539Ser
  • NP_001171479.1:p.Leu539Ser
  • NP_001171480.1:p.Leu539Ser
  • NP_001307227.1:p.Leu539Ser
  • NP_001308001.1:p.Leu434Ser
  • LRG_777t1:c.1616T>C
  • LRG_777:g.27011T>C
  • LRG_777p1:p.Leu539Ser
  • NC_000021.8:g.44474030A>G
  • NM_000071.2:c.1616T>C
  • P35520:p.Leu539Ser
Protein change:
L434S; LEU539SER
Links:
UniProtKB: P35520#VAR_002194; OMIM: 613381.0008; dbSNP: rs121964968
NCBI 1000 Genomes Browser:
rs121964968
Molecular consequence:
  • NM_000071.3:c.1616T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178008.3:c.1616T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178009.3:c.1616T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320298.2:c.1616T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321072.1:c.1301T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Homocystinuria, pyridoxine-responsive
Identifiers:
MedGen: C3502110

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000020289OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 1997) 		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

Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patients.

Aral B, Coudé M, London J, Aupetit J, Chassé JF, Zabot MT, Chadefaux-Vekemans B, Kamoun P.

Hum Mutat. 1997;9(1):81-2. No abstract available.

PubMed [citation]
PMID:
8990018

Details of each submission

From OMIM, SCV000020289.2

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

Description

In a patient with pyridoxine-responsive homocystinuria (236200), Aral et al. (1997) demonstrated homozygosity for a leu539-to-ser (L539S) mutation in the CBS gene. See also 613381.0007.

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

Last Updated: Sep 29, 2024