NM_000518.5(HBB):c.128T>C (p.Phe43Ser) AND Heinz body anemia

Clinical significance:Pathogenic (Last evaluated: Jun 1, 1988)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000016373.29

Allele description [Variation Report for NM_000518.5(HBB):c.128T>C (p.Phe43Ser)]

NM_000518.5(HBB):c.128T>C (p.Phe43Ser)

Genes:
LOC106099062:HBB recombination 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.128T>C (p.Phe43Ser)
Other names:
F42S
HGVS:
  • NC_000011.10:g.5226764A>G
  • NG_000007.3:g.70852T>C
  • NG_042296.1:g.295A>G
  • NG_046672.1:g.4699A>G
  • NG_059281.1:g.5308T>C
  • NM_000518.5:c.128T>CMANE SELECT
  • NP_000509.1:p.Phe43Ser
  • LRG_1232t1:c.128T>C
  • LRG_1232:g.5308T>C
  • LRG_1232p1:p.Phe43Ser
  • NC_000011.9:g.5247994A>G
  • NM_000518.4:c.128T>C
  • P68871:p.Phe43Ser
Protein change:
F43S; PHE42SER
Links:
UniProtKB: P68871#VAR_035239; OMIM: 141900.0100; dbSNP: rs34378160
NCBI 1000 Genomes Browser:
rs34378160
Molecular consequence:
  • NM_000518.5:c.128T>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
SCV000036641OMIMno assertion criteria providedPathogenic
(Jun 1, 1988)
germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Dacie, J. V., Shinton, N. K., Gaffney, P. J., Jr., Carrell, R. W., Lehmann, H. Haemoglobin Hammersmith (beta 42 (CD 1) phe to ser). Nature 216: 663-665, 1967.

Summary from all submissions

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

Citations

PubMed

Hemoglobin Toluchi: beta 131 glutamine leads to glutamic acid, an example of Hb Camden in Japan.

Ohba Y, Miyaji T, Matsuoka M, Ueda S, Iuchi I, Shibata S.

Nihon Ketsueki Gakkai Zasshi. 1975 Feb;38(1):1-7. No abstract available.

PubMed [citation]
PMID:
1173714

A Swiss family with hemoglobin P Galveston beta117His leads to Arg, including two patients with hb P/beta thalassemia.

Di Iorio EE, Winterhalter KH, Wilson K, Rosenmund A, Marti HR.

Blut. 1975 Aug;31(2):61-8.

PubMed [citation]
PMID:
1164567
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000036641.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

The normal phenylalanine at this site apparently 'stabilizes' the heme with which it is in contact. The substitution of serine leads to severe Heinz body hemolytic anemia. See Dacie et al. (1967), Ohba et al. (1975), and Rahbar et al. (1981). Dianzani et al. (1991) demonstrated a de novo phe42-to-ser mutation using the chemical cleavage of mismatch method (CCM) of Cotton et al. (1988). The responsible substitution was a TTT-to-TCT change. The report of rare cases of this hemoglobinopathy in different ethnic groups also supports the occurrence of independent mutations.

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

Last Updated: Nov 27, 2021

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