IthaID: 499

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Benign / Likely Benign
Common Name:	CD 27 GAG>GAC [Glu>Asp]	HGVS Name:	HBA2:c.84G>C
Hb Name:	Hb Hekinan	Protein Info:	α2 27(B8) Glu>Asp

Context nucleotide sequence:
CGCACGCTGGCGAGTATGGTGCGGA [C/G] GCCCTGGAGAGGTGAGGCTCCCTCC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGADALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
OMIM	SwissVar

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:	33859
Size:	1 bp
Located at:	α2
Specific Location:	Exon 1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Harano T, Harano K, Imai N, Ueda S, Seki M, An electrophoretically silent hemoglobin variant, Hb Hekinan [alpha 27(B8)Glu----Asp] found in a Japanese., Hemoglobin , 12(1), 61-5, 1988 PubMed
Merault G, Keclard L, Desfontaines L, Saint-Martin C, Blouquit Y, Rosa J, Galacteros F, Hemoglobin Hekinan [alpha (2)27(B8)Glu----Asp beta 2] detected in Guyana., Hemoglobin , 13(4), 397-402, 1989 PubMed
Molchanova TP, Pobedimskaya DD, Huisman TH, The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes., Br. J. Haematol. , 88(2), 300-6, 1994 PubMed
Moradkhani K, Préhu C, Old J, Henderson S, Balamitsa V, Luo HY, Poon MC, Chui DH, Wajcman H, Patrinos GP, Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants., Ann. Hematol. , 88(6), 535-43, 2009 PubMed

Created on 2010-06-16 16:13:15, Last reviewed on 2014-06-05 12:46:58 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:15	The IthaGenes Curation Team	Created
2	2014-03-13 12:54:39	The IthaGenes Curation Team	Reviewed.
3	2014-06-05 12:46:58	The IthaGenes Curation Team	Reviewed. References updated.

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