IthaID: 2281

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Variant of Uncertain Significance
Common Name:	CD 83 CTG>CGG [Leu>Arg]	HGVS Name:	HBA2: c.251T>G
Hb Name:	Hb Ahvaz	Protein Info:	α2 83(F4) Leu > Arg
Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Comments: Leucine to Arginine amino acid change seems to increase oxygen affinity, heme loss, and instability. Thus, altering the spatial arrangements of the contact points decrease the affinity of the α-globin chain for the β-globin chain.

External Links

HbVar

Phenotype

Hemoglobinopathy Group:	Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	α-chain variant
Allele Phenotype:	N/A
Stability:	N/A
Oxygen Affinity:	N/A
Associated Phenotypes:	Haemolytic anaemia [HP:0001878]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	37947
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:	Iranian
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Publications / Origin

Hamid M, Shariati G, Saberi A, Galehdari H, Kaikhaei B, Mohammadi-Anaei M, Hb AHVAZ [α83(F4)Leu→Arg, CTG>CGG (α2); HBA2: c.251T>G],A New Hemoglobin Variant of the α2-Globin Gene., Hemoglobin , 37(5), 477-80, 2013

Created on 2013-10-09 13:06:24, Last reviewed on 2018-02-27 17:58:54 (Show full history)

A/A	Date	Curator(s)	Comments
1	2013-10-09 13:06:24	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2018-02-07 17:55:58	The IthaGenes Curation Team	Reviewed. Common name updated. Comment added.
4	2018-02-27 17:58:54	The IthaGenes Curation Team	Reviewed. HbVar link added.

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