IthaID: 2280

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 38 ACC>AGC HGVS Name: HBB:c.116C>G
Hb Name: N/A Protein Info: β 38(C4) Thr>Ser

Protein sequence:

External Links


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70840
Size: 1 bp
Located at: β
Specific Location: Exon 2


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

Other details

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

Sequence Viewer

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Publications / Origin

  1. Taliercio RM, Ashton RW, Horwitz L, Swanson KC, Wendt PC, Hoyer JD, Oliveira JL, Hb Grove City [β38(C4)Thr→Ser, ACC>AGC; HBB: c.116C>G]: a new low oxygen affinity β chain variant., Hemoglobin , 37(4), 396-403, 2013 PubMed
Created on 2013-10-09 12:59:31, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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