IthaID: 538


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 45 CAC>CAG [His>Gln] HGVS Name: HBA1:c.138C>G | HBA2:c.138C>G
Hb Name: Hb Bari Protein Info: α2 or α1 45(CE3) His>Gln

Context nucleotide sequence:
GGGCAGAGCCGTGGCTCAGGTCGAA [C/G] TGCGGGAAGTAGGTCTTGGTGGTGG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPQFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34030 or 37834
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
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: Italian
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Marinucci M, Mavilio F, Tentori L, D'Erasmo F, Colapietro A, de Stasio G, Di Fonzo S, A new human hemoglobin variant: Hb BARI (alpha 2 45 (CD3) His leads to Gln beta 2)., Biochim. Biophys. Acta , 622(2), 315-9, 1980
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-27 12:47:19 (Show full history)

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