IthaID: 839

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 9 TCT>TAT; CD 121 GAA>CAA HGVS Name: HBB:c.[29C>A;364G>C]
Hb Name: Hb D-Agri Protein Info: β 9(A6) Ser>Tyr AND β 121(GH4) Glu>Gln

Context nucleotide sequence:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70623
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Indian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Colah R, Wadia M, Surve R, Nadkarni A, Phanasgaonkar S, Gorakshakar A, Mohanty D, Promé D, Wajcman H, Hb D-Agri [beta9(A6)Ser --> Tyr;beta121(GH4)Glu --> Gln]: a new Indian hemoglobin variant with two amino acid substitutions in the same beta chain., Hemoglobin, 25(3), 317-21, 2001 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2021-10-21 11:14:47 (Show full history)

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