NM_000518.5(HBB):c.391T>G (p.Tyr131Asp) AND HEMOGLOBIN WIEN

Clinical significance:other (Last evaluated: Dec 12, 2017)

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:
RCV000016641.5

Allele description [Variation Report for NM_000518.5(HBB):c.391T>G (p.Tyr131Asp)]

NM_000518.5(HBB):c.391T>G (p.Tyr131Asp)

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.391T>G (p.Tyr131Asp)
Other names:
Y130D
HGVS:
  • NC_000011.10:g.5225651A>C
  • NG_000007.3:g.71965T>G
  • NG_046672.1:g.3586A>C
  • NG_053049.1:g.1972A>C
  • NG_059281.1:g.6421T>G
  • NM_000518.5:c.391T>GMANE SELECT
  • NP_000509.1:p.Tyr131Asp
  • LRG_1232t1:c.391T>G
  • LRG_1232:g.6421T>G
  • LRG_1232p1:p.Tyr131Asp
  • NC_000011.9:g.5246881A>C
  • P68871:p.Tyr131Asp
Protein change:
Y131D; TYR130ASP
Links:
UniProtKB: P68871#VAR_003063; OMIM: 141900.0297; dbSNP: rs35834416
NCBI 1000 Genomes Browser:
rs35834416
Molecular consequence:
  • NM_000518.5:c.391T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN WIEN
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000036910OMIMno assertion criteria providedother
(Dec 12, 2017)
germlineliterature only

PubMed (2)
[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

Molecular pathology of human haemoglobin.

Perutz MF, Lehmann H.

Nature. 1968 Aug 31;219(5157):902-9. No abstract available.

PubMed [citation]
PMID:
5691676

Structure of haemoglobin Wien beta 130 (H8) tyrosine-aspartic acid: an unstable haemoglobin variant.

Lorkin PA, Pietschmann H, Braunsteiner H, Lehmann H.

Acta Haematol. 1974;51(6):351-61. No abstract available.

PubMed [citation]
PMID:
4212355

Details of each submission

From OMIM, SCV000036910.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

See Perutz and Lehmann (1968) and Lorkin et al. (1974).

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

Last Updated: Sep 29, 2021

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