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NM_000518.5(HBB):c.337T>C (p.Cys113Arg) AND Heinz body anemia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 15, 1994
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:
RCV000016393.30

Allele description [Variation Report for NM_000518.5(HBB):c.337T>C (p.Cys113Arg)]

NM_000518.5(HBB):c.337T>C (p.Cys113Arg)

Genes:
LOC110006319:beta-globin gene 3' regulatory region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC107133510:origin of replication at HBB [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000518.5(HBB):c.337T>C (p.Cys113Arg)
Other names:
C112R
HGVS:
  • NC_000011.10:g.5225705A>G
  • NG_000007.3:g.71911T>C
  • NG_046672.1:g.3640A>G
  • NG_053049.1:g.2026A>G
  • NG_059281.1:g.6367T>C
  • NM_000518.5:c.337T>CMANE SELECT
  • NP_000509.1:p.Cys113Arg
  • LRG_1232t1:c.337T>C
  • LRG_1232:g.6367T>C
  • LRG_1232p1:p.Cys113Arg
  • NC_000011.9:g.5246935A>G
  • P68871:p.Cys113Arg
Protein change:
C113R; CYS112ARG
Links:
UniProtKB: P68871#VAR_003035; OMIM: 141900.0117; dbSNP: rs35849199
NCBI 1000 Genomes Browser:
rs35849199
Molecular consequence:
  • NM_000518.5:c.337T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Heinz body anemia
Synonyms:
Heinz body anemias; Heinz body hemolytic anemia
Identifiers:
MONDO: MONDO:0007705; MedGen: C0700299; Orphanet: 178330; OMIM: 140700; Human Phenotype Ontology: HP:0005511

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000036661OMIM
no assertion criteria provided
Pathogenic
(Feb 15, 1994)
germlineliterature only

PubMed (4)
[See all records that cite these PMIDs]

Adams, J. G., Boxer, L. A., Baehner, R. L., Forget, B. G., Tsistrokis, G. A., Steinberg, M. H. Hemoglobin Indianapolis: post-translational degradation of an unstable beta-chain variant producing a phenotype of severe heterozygous beta-thalassemia. (Abstract) Clin. Res. 26: 501A, 1978.

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Hemoglobin J Altgeld Gardens. A hemoglobin variant with a substitution of the proximal histidine of the beta-chain.

Adams JG 3rd, Przywara KP, Heller P, Shamsuddin M.

Hemoglobin. 1978;2(5):403-15. No abstract available.

PubMed [citation]
PMID:
721609

A case of hemoglobin Indianapolis [beta 112(G14) Cys----Arg] in an individual from Cordoba, Spain.

Baiget M, Gomez Pereira C, Jue DL, Johnson MH, McGuffey JE, Moo-Penn WF.

Hemoglobin. 1986;10(5):483-94.

PubMed [citation]
PMID:
3781865
See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000036661.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (4)

Description

Adams et al. (1978, 1979) studied father and daughter with a clinical picture of beta-thalassemia which was due to labile beta-chains resulting in Heinz body formation in normoblasts. The changes in the beta-chains were posttranslational. Baiget et al. (1986) and De Biasi et al. (1988) described 2 new families with the cys112-to-arg mutation. In these families the carriers were not anemic, had normal chromic and normocytic red cells, and displayed only mild reticulocytosis. This prompted Coleman et al. (1991) to restudy the original family with the finding that the mutation in fact was leu106-to-arg. In order to avoid confusion, they renamed the original mutation Hb Terre Haute (see 141900.0398).

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

Last Updated: Jun 9, 2024