IthaID: 772


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 139 AAA>GAA [Lys>Glu] HGVS Name: HBA2:c.418A>G
Hb Name: Hb Hanamaki-2 Protein Info: α2 139(HC1) Lys>Glu

Context nucleotide sequence:
TTCTGTGAGCACCGTGCTGACCTCC [A/G] AATACCGTTAAGCTGGAGCCTCGGT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSEYR

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34452
Size: 1 bp
Located at: α2
Specific Location: Exon 3

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Rahbar S, Lee TD, Davis M, Novotny WF, Ranney HM, A second case of Hb Hanamaki [alpha 2 139(HC1)Lys->Glu beta 2] in an American family with erythrocytosis., Hemoglobin , 18(3), 221-6, 1994
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-15 12:38:31 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.