IthaID: 2519

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
Common Name:	CD 127 AAG>TAG [Lys>STOP]	HGVS Name:	HBA2:c.382A>T
Hb Name:	N/A	Protein Info:	α2 127(H10) Lys>stop

Context nucleotide sequence:
CCCTGCGGTGCACGCCTCCCTGGAC [A/T] AGTTCCTGGCTTCTGTGAGCACCGT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDX

Also known as:

Comments: Variant was found in a heterozygous state in four unrelated individuals of Lor ethnicity in Khuzestan province during routine screening. They all presented with moderate anaemia, mild microcytosis and moderate hypochromia. No abnormal haemoglobin was detected by cellulose acetate electrophoresis.

External Links

No available links

Phenotype

Hemoglobinopathy Group:	Thalassaemia
Hemoglobinopathy Subgroup:	α-thalassaemia
Allele Phenotype:	N/A
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	34416
Size:	1 bp
Located at:	α2
Specific Location:	Exon 3

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	Nonsense codon (Translation)
Ethnic Origin:	Iranian
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

Sequence Viewer

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Publications / Origin

Hamid M, Bokharaei Merci H, Galehdari H, Saberi AH, Kaikhaei B, Mohammadi-Anaei M, Ahmadzadeh A, Shariati G, A Novel Alpha-thalassemia Nonsense Mutation in HBA2: C.382 A > T globin Gene., Arch Iran Med , 17(7), 475-6, 2014 PubMed

Created on 2014-07-15 09:44:47, Last reviewed on 2020-01-21 08:44:31 (Show full history)

A/A	Date	Curator(s)	Comments
1	2014-07-15 09:44:47	The IthaGenes Curation Team	Created
2	2020-01-21 08:44:16	The IthaGenes Curation Team	Reviewed. Common name edited, Protein name corrected, Protein info added.
3	2020-01-21 08:44:31	The IthaGenes Curation Team	Reviewed. Comment added.

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