NM_000518.4(HBB):c.82G>T (p.Ala28Ser) AND HEMOGLOBIN KNOSSOS

Clinical significance:other (Last evaluated: Jul 20, 2016)

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:
RCV000016439.2

Allele description

NM_000518.4(HBB):c.82G>T (p.Ala28Ser)

Gene:
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000518.4(HBB):c.82G>T (p.Ala28Ser)
Other names:
cd27 G>T
HGVS:
  • NC_000011.10:g.5226940C>A
  • NG_000007.3:g.70676G>T
  • NM_000518.4:c.82G>T
  • NP_000509.1:p.Ala28Ser
  • NC_000011.9:g.5248170C>A
  • P68871:p.Ala28Ser
  • p.Ala27Ser
Protein change:
A27S; ALA27SER
Links:
UniProtKB: P68871#VAR_002910; OMIM: 141900.0149; dbSNP: rs35424040
NCBI 1000 Genomes Browser:
rs35424040
Allele Frequency:
0.00001(A)
Molecular consequence:
  • NM_000518.4:c.82G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN KNOSSOS
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000036707OMIMno assertion criteria providedother
(Jul 20, 2016)
germlineliterature only

PubMed (6)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Hb Knossos, beta 27 Ala leads to Ser (B 9): a new hemoglobinopathy presenting as a silent beta-thalassemia.

Rosa J, Fessas P, Galacteros F, Monplaisir N, Loukopoulos D, Blouquit Y, Komis G, Arous N, Boussiou M.

Prog Clin Biol Res. 1983;134:129-30. No abstract available.

PubMed [citation]
PMID:
6664996

Silent beta-thalassemia associated with Hb Knossos beta 27 (B9) Ala replaced by Ser in Algeria.

Rouabhi F, Chardin P, Boissel JP, Beghoul F, Labie D, Benabadji M.

Hemoglobin. 1983;7(6):555-61. No abstract available.

PubMed [citation]
PMID:
6668188
See all PubMed Citations (6)

Details of each submission

From OMIM, SCV000036707.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (6)

Description

See Arous et al. (1982), Rouabhi et al. (1983), Galacteros et al. (1984), Elwan et al. (1987), and Kutlar et al. (1989). Hemoglobin Knossos is a cause of beta-thalassemia (613985), as is hemoglobin E. Orkin et al. (1984) isolated the beta(Knossos) gene and examined its expression in HeLa cells. Using a cryptic splice sequence that is enhanced by the Knossos substitution, they found that some beta(Knossos) transcripts were abnormally processed. In addition to Hb E, a silent substitution at beta 24 causes thalassemia by abnormal RNA processing.

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

Last Updated: Dec 15, 2017