IthaID: 3657



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 26 GCG>ACG [Ala>Thr];CD 130 GCT>CCT [Ala>Pro] HGVS Name: HBA2:c.[79G>A;391G>C]
Hb Name: Hb Southern Italy Protein Info: α2 26(B7) Ala>Thr AND α2 130(H13) Ala>Pro

Also known as:

Comments: Heterozygotes showed mild microcythemia with normal iron metabolism, normal levels of Hb A2, and no observation of Hb variants by cation-exchange HPLC or cellulose acetate electrophoresis. The two mutations were associated in cis with the SNP +861G>A [IthaID: 3301] in the carriers.

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33854 or 34425
Size: 1 bp or 1 bp
Located at: α2
Specific Location: Exon 1

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: South Italian
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!

Created on 2020-10-14 10:21:48, Last reviewed on 2020-10-15 12:08:42 (Show full history)

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