NM_000518.4(HBB):c.418A>T (p.Asn140Tyr) AND HEMOGLOBIN AURORA

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:
RCV000016813.3

Allele description [Variation Report for NM_000518.4(HBB):c.418A>T (p.Asn140Tyr)]

NM_000518.4(HBB):c.418A>T (p.Asn140Tyr)

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_000518.4(HBB):c.418A>T (p.Asn140Tyr)
Other names:
N139Y
HGVS:
  • NC_000011.10:g.5225624T>A
  • NG_000007.3:g.71992A>T
  • NG_046672.1:g.3559T>A
  • NG_053049.1:g.1945T>A
  • NG_059281.1:g.6448A>T
  • NM_000518.5:c.418A>TMANE SELECT
  • NP_000509.1:p.Asn140Tyr
  • LRG_1232t1:c.418A>T
  • LRG_1232:g.6448A>T
  • LRG_1232p1:p.Asn140Tyr
  • NC_000011.9:g.5246854T>A
  • P68871:p.Asn140Tyr
Protein change:
N140Y; ASN139TYR
Links:
HBVAR: 554; UniProtKB: P68871#VAR_003079; OMIM: 141900.0459; dbSNP: rs33910475
NCBI 1000 Genomes Browser:
rs33910475
Molecular consequence:
  • NM_000518.5:c.418A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN AURORA
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000037083OMIMno assertion criteria providedother
(Dec 12, 2017)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Identification of a new high oxygen affinity hemoglobin variant: Hb Aurora [beta 139(H17) Asn-->Tyr].

Lafferty J, Ali M, Matthew K, Eng B, Patterson M, Waye JS.

Hemoglobin. 1995;19(6):335-41.

PubMed [citation]
PMID:
8718692

Details of each submission

From OMIM, SCV000037083.4

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

Description

In a 73-year-old female of Dutch descent, Lafferty et al. (1995) found that a high oxygen affinity hemoglobin variant resulted from an AAT-to-TAT transversion of codon 139, resulting in an asn139-to-tyr amino acid substitution. See 141900.0092 for the asn139-to-asp mutation and 141900.0108 for the asn139-to-lys mutation involving the same codon.

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

Last Updated: Sep 29, 2021

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