IthaID: 474


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 19 (GCC>GAC) [Ala>Asp] HGVS Name: HBA2:c.59C>A | HBA1:c.59C>A
Hb Name: Hb J-Kurosh Protein Info: α2 or α1 19(AB1) Ala>Asp

Context nucleotide sequence:
GCCGCCTGGGGTAAGGTCGGCG [C/A] GCACGCTGGCGAGTATGGTGCG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGDHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Codon 19 is presumed to be GCG but may be GCC in some populations; a one base change of GCC can result in GAC and explain the Ala->Asp replacement

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33834 or 37638
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Iranian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Rahbar S, Ala F, Akhavan E, Nowzari G, Shoa'i I, Zamanianpoor MH, Two new haemoglobins: haemoglobin Perspolis (alpha 64 (E13) Asp leads to Tyr) and haemoglobin J-Kurosh (alpha 19 (AB) Ala leads to Asp)., Biochim. Biophys. Acta , 427(1), 119-25, 1976
Created on 2010-06-16 16:13:15, Last reviewed on 2021-05-26 11:27:11 (Show full history)

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