IthaID: 3003

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 100 CCT>TCT [Pro>Ser] HGVS Name: HBD:c.301C>T
Hb Name: Hb A2-Saurashtra Protein Info: δ 100(G2) Pro>Ser

Protein sequence:

Also known as:

Comments: The Hb A2-Saurashtra variant was in cis of a beta-thal mutation. The probands were homozygous for this chromosome and presented a thalassemia major state.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: δ-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: 63611
Size: 1 bp
Located at: δ
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Indian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Colaco S, Trivedi A, Colah RB, Ghosh K, Nadkarni AH, Masking of a β-Thalassemia Determinant by a Novel δ-Globin Gene Defect [Hb A2-Saurashtra or δ100(G2)Pro→Ser; HBD: c.301CT] in Cis., Hemoglobin , 1(1), 1-4, 2013 PubMed
Created on 2016-08-24 10:32:47, Last reviewed on 2016-08-24 10:45:33 (Show full history)

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