IthaID: 3597



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 26 (GAG>AAG); CD 104 (AGG>GGG) HGVS Name: HBB:c.[79G>A;313A>G]
Hb Name: Hb E-Gurdaspur Protein Info: β 26(B8) Glu>Lys AND β 104(G6) Arg>Gly

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGKALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFGLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: These two mutations were reported in an Indian woman presented with mild microcytosis mild hypochromia (Hb 12.1 g/dL, MCH 23.6 pg, MCV 72.1 Fl, RBC 5.11 10^12/L and Hb X 31.4 %).

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70673 or 71037
Size: 1 bp or 1 bp
Located at: β
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Indian
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To the best of our knowledge, this is unpublished data.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 2020-06-30 12:15:07, Last reviewed on (Show full history)

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