U.S. flag

An official website of the United States government

NM_000517.6(HBA2):c.22A>G (p.Lys8Glu) AND HEMOGLOBIN KUROSAKI

Germline classification:
other (1 submission)
Last evaluated:
Oct 13, 2016
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:
RCV000016982.3

Allele description [Variation Report for NM_000517.6(HBA2):c.22A>G (p.Lys8Glu)]

NM_000517.6(HBA2):c.22A>G (p.Lys8Glu)

Genes:
LOC106804612:hemoglobin subunit alpha 2 recombination region [Gene]
HBA2:hemoglobin subunit alpha 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000517.6(HBA2):c.22A>G (p.Lys8Glu)
Other names:
K7E
HGVS:
  • NC_000016.10:g.172934A>G
  • NG_000006.1:g.33797A>G
  • NG_046165.1:g.2673A>G
  • NG_059186.1:g.1284A>G
  • NG_059271.1:g.5088A>G
  • NM_000517.6:c.22A>GMANE SELECT
  • NP_000508.1:p.Lys8Glu
  • LRG_1240t1:c.22A>G
  • LRG_1225:g.1284A>G
  • LRG_1240:g.5088A>G
  • LRG_1240p1:p.Lys8Glu
  • NC_000016.9:g.222933A>G
  • P69905:p.Lys8Glu
Protein change:
K8E; LYS7GLU
Links:
UniProtKB: P69905#VAR_002728; OMIM: 141850.0068; dbSNP: rs34817956
NCBI 1000 Genomes Browser:
rs34817956
Molecular consequence:
  • NM_000517.6:c.22A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN KUROSAKI
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000037254OMIM
no assertion criteria provided
other
(Oct 13, 2016) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Hb Kurosaki [alpha 7(A5)Lys-->Glu]: a new alpha chain variant found in a Japanese woman.

Harano T, Harano K, Imai K, Murakami T, Matsubara H.

Hemoglobin. 1995 May-Jul;19(3-4):197-201. No abstract available.

PubMed [citation]
PMID:
7558876

Hb Kurosaki [alpha7(A5)Lys -->Glu (AAG --> GAG)]: an alpha2-globin gene mutation found in Thailand.

Ngiwsara L, Srisomsap C, Winichagoon P, Fucharoen S, Sae-Ngow B, Svasti J.

Hemoglobin. 2005;29(2):155-9.

PubMed [citation]
PMID:
15921168

Details of each submission

From OMIM, SCV000037254.2

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

Description

In the course of assaying glycosylated hemoglobin in a diabetic patient, Harano et al. (1995) found a new alpha-chain variant, which they named Hb Kurosaki after the city where the patient lived. Structural analysis demonstrated substitution of glutamic acid for lysine at position 7. From studies of a 30-year-old Thai male with normal hematologic profile at the steady state, Ngiwsara et al. (2005) found the same hemoglobin variant and demonstrated that the mutation was localized to the HBA2 gene and was caused by heterozygosity for an AAG-to-GAG transition in codon 7.

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

Last Updated: Mar 4, 2023