IthaID: 581


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 61 AAG>ACG [Lys>Thr] HGVS Name: HBA2:c.185A>C
Hb Name: Hb J-Anatolia Protein Info: α2 61(E10) Lys>Thr

Context nucleotide sequence:
GCCCAGGTTAAGGGCCACGGCAAGA [A/C] GGTGGCCGACGCGCTGACCAACGCC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKTVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

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: 34077
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Other details

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

Publications / Origin

  1. Giordano PC, Fodde R, Amons R, Ploem JE, Bernini LF, Hb J-Anatolia [alpha 61(E10)Lys----Thr]: structural characterization and gene localization of a new alpha chain variant., Hemoglobin , 14(2), 119-28, 1990
Created on 2010-06-16 16:13:15, Last reviewed on 2014-04-09 18:12:09 (Show full history)

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