IthaID: 2295



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 100 CCT>TCT HGVS Name: HBD: c.301C>T
Hb Name: Hb A2-Saurashtra Protein Info: δ100(G2)Pro>Ser

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63611
Size: 1 bp
Located at: δ
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: δ-chain variant
Allele Phenotype:Sickling
Stability: N/A
Oxygen Affinity: 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: Indian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

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 2013-12-20 14:31:29, Last reviewed on 2013-12-20 14:33:18 (Show full history)

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