IthaID: 355


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 26 GCG>ACG [Ala>Thr] HGVS Name: HBA2:c.79G>A
Hb Name: Hb Caserta Protein Info: α2 26(B7) Ala>Thr

Context nucleotide sequence:
CGGCGCGCACGCTGGCGAGTATGGT [A/G] CGGAGGCCCTGGAGAGGTGAGGCTC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGTEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-thalassaemia, α-chain variant
Allele Phenotype:α⁺
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33854
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Other details

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

Publications / Origin

  1. VENTRUTO V, DEROSA L, BIANCHI P, RICCHI L, QUATTRIN N, [DESCRIPTION OF A NEW SLOW HEMOGLOBIN IN A CASERTIAN FAMILY (HB CASERTA)]., Prog Med (Napoli) , 20(0), 157-62, 1964
  2. Passarello C, Giambona A, Prossomariti L, Ammirabile M, Pucci P, Renda D, Pagano L, Maggio A, Hb Southern Italy: coexistence of two missence mutations (the Hb Sun Prairie alpha2 130 Ala --> Pro and Hb Caserta alpha2 26 Ala --> Thr) in a single HBA2 gene., Br. J. Haematol. , 143(1), 138-42, 2008
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-18 13:11:07 (Show full history)

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