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NM_000071.3(CBS):c.430G>A (p.Glu144Lys) AND Homocystinuria, pyridoxine-responsive

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 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:
RCV000000144.4

Allele description [Variation Report for NM_000071.3(CBS):c.430G>A (p.Glu144Lys)]

NM_000071.3(CBS):c.430G>A (p.Glu144Lys)

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.430G>A (p.Glu144Lys)
HGVS:
  • NC_000021.9:g.43066264C>T
  • NG_008938.1:g.14667G>A
  • NM_000071.3:c.430G>AMANE SELECT
  • NM_001178008.3:c.430G>A
  • NM_001178009.3:c.430G>A
  • NM_001320298.2:c.430G>A
  • NM_001321072.1:c.115G>A
  • NP_000062.1:p.Glu144Lys
  • NP_000062.1:p.Glu144Lys
  • NP_001171479.1:p.Glu144Lys
  • NP_001171480.1:p.Glu144Lys
  • NP_001307227.1:p.Glu144Lys
  • NP_001308001.1:p.Glu39Lys
  • LRG_777t1:c.430G>A
  • LRG_777:g.14667G>A
  • LRG_777p1:p.Glu144Lys
  • NC_000021.8:g.44486374C>T
  • NM_000071.2:c.430G>A
  • P35520:p.Glu144Lys
Protein change:
E144K; GLU144LYS
Links:
UniProtKB: P35520#VAR_002177; OMIM: 613381.0006; dbSNP: rs121964966
NCBI 1000 Genomes Browser:
rs121964966
Molecular consequence:
  • NM_000071.3:c.430G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178008.3:c.430G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178009.3:c.430G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320298.2:c.430G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321072.1:c.115G>A - 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
SCV000020287OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 1995) 		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

A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.

Shih VE, Fringer JM, Mandell R, Kraus JP, Berry GT, Heidenreich RA, Korson MS, Levy HL, Ramesh V.

Am J Hum Genet. 1995 Jul;57(1):34-9.

PubMed [citation]
PMID:
7611293
PMCID:
PMC1801250

Details of each submission

From OMIM, SCV000020287.2

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

Description

For discussion of the glu144-to-lys (E144K) mutation in the CBS gene that was found in compound heterozygous state in patients with pyridoxine-responsive homocystinuria (236200) by Shih et al. (1995), see 613381.0004.

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

Last Updated: Nov 10, 2024