IthaID: 593

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Benign / Likely Benign
Common Name:	CD 68 AAC>GAC [Asn>Asp]	HGVS Name:	HBA2:c.205A>G
Hb Name:	Hb Ube-2	Protein Info:	α2 68(E17) Asn>Asp
Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Context nucleotide sequence:
CAAGAAGGTGGCCGACGCGCTGACC [A/G] ACGCCGTGGCGCACGTGGACGACAT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTDAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Comments: Found in a Taiwanese male presented with normal hematological indices. Quantitation of the variant shown an Hb X 25.1% migrated faster than the Hb A [PMID:11939522].

External Links

HbVar	ClinVar
dbSNP	dbSNP
OMIM

Phenotype

Hemoglobinopathy Group:	Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	α-chain variant
Allele Phenotype:	N/A
Stability:	N/A
Oxygen Affinity:	N/A
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	34097
Size:	1 bp
Located at:	α2
Specific Location:	Exon 2

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	Missense codons (Protein Structure)
Ethnic Origin:	Japanese, Taiwanese, Chinese
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

Miyaji T, Iuchi I, Yamamoto K, Ohba Y, Shibata S, Amino acid substitution of hemoglobin Ube 2 (alpha-2 68asp beta-2): an example of successful application of partial hydrolysis of peptide with 5 per cent acetic acid., Clin. Chim. Acta , 16(3), 347-52, 1967 PubMed
Imai K, Morimoto H, Kotani M, Shibata S, Miyaji T, Studies on the function of abnormal hemoglobins. II. Oxygen equilibrium of abnormal hemoglobins: Shimonoseki, Ube II, Hikari, Gifu, and Agenogi., Biochimica et biophysica acta, 200(2), 197-202, 1970 PubMed
Bilginer A, Lehmann H, Arcasoy A, Hemoglobin Ube-2 (alpha 68 Asn----Asp) observed in a Turkish family., Hemoglobin , 8(2), 189-91, 1984 PubMed
Cotton F, Hansen V, Lin C, Parma J, Cochaux P, Damis E, Vertongen F, Gulbis B, Hb Ube-2 [alpha68(E17)Asn-Asp] and Hb Hafnia [beta116(G18)His-->Gln] observed during neonatal screening in Brussels., Hemoglobin , 24(1), 65-9, 2000 PubMed
Shin MC, Chen CM, Liu SC, Huang CH, Lee TP, Chan WL, Chang JG, Hb Ube-2 in a Taiwanese subject: an A-->G substitution at codon 68 of the alpha2-globin gene., Hemoglobin , 26(1), 99-101, 2002 PubMed

Created on 2010-06-16 16:13:15, Last reviewed on 2021-03-11 13:58:14 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:15	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2014-04-10 08:23:25	The IthaGenes Curation Team	Reviewed.
4	2014-05-17 16:01:51	The IthaGenes Curation Team	Reviewed. Additional references and ClinVar link added.
5	2021-03-11 13:58:14	The IthaGenes Curation Team	Reviewed. Selected gene, HGVS and protein name corrected. Comment and Reference added.

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