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NM_000071.3(CBS):c.1150A>G (p.Lys384Glu) 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:
RCV000000145.2

Allele description [Variation Report for NM_000071.3(CBS):c.1150A>G (p.Lys384Glu)]

NM_000071.3(CBS):c.1150A>G (p.Lys384Glu)

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.1150A>G (p.Lys384Glu)
HGVS:
  • NC_000021.9:g.43059299T>C
  • NG_008938.1:g.21632A>G
  • NM_000071.3:c.1150A>GMANE SELECT
  • NM_001178008.3:c.1150A>G
  • NM_001178009.3:c.1150A>G
  • NM_001320298.2:c.1150A>G
  • NM_001321072.1:c.835A>G
  • NP_000062.1:p.Lys384Glu
  • NP_001171479.1:p.Lys384Glu
  • NP_001171480.1:p.Lys384Glu
  • NP_001307227.1:p.Lys384Glu
  • NP_001308001.1:p.Lys279Glu
  • LRG_777:g.21632A>G
  • NC_000021.8:g.44479409T>C
  • P35520:p.Lys384Glu
Protein change:
K279E; LYS384GLU
Links:
UniProtKB: P35520#VAR_002191; OMIM: 613381.0007; dbSNP: rs121964967
NCBI 1000 Genomes Browser:
rs121964967
Molecular consequence:
  • NM_000071.3:c.1150A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178008.3:c.1150A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178009.3:c.1150A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320298.2:c.1150A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321072.1:c.835A>G - 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
SCV000020288OMIM
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, SCV000020288.1

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

Description

In 2 unrelated French vitamin B6-responsive homocystinuria (236200) patients with no Celtic origin, Aral et al. (1997) demonstrated novel mutations in the CBS gene. One patient had unilateral lens subluxation and deep vein thrombosis at age 6, and a Marfan-like appearance with thinning of long bones and digits, together with osteoporosis of the lower limbs. This patient was homozygous for a 1150A-G transition, resulting in a substitution lys384-to-glu (K384E). See also 613381.0008.

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

Last Updated: Sep 29, 2024