IthaID: 412


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 129 CTG>CCG [Leu>Pro] HGVS Name: HBA2:c.389T>C
Hb Name: Hb Utrecht Protein Info: α2 129(H12) Leu>Pro

Context nucleotide sequence:
GTGCACGCCTCCCTGGACAAGTTCC [C/T] GGCTTCTGTGAGCACCGTGCTGACC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFPASVSTVLTSKYR

Also known as:

External Links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34423
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: Dutch, Indonesian
Molecular mechanism: Altered secondary structure
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Harteveld CL, Giordano PC, Losekoot M, Heister JG, Batelaan D, van Delft P, Bruin MC, Bernini LF, Hb Utrecht [alpha 2 129(H12)Leu-->Pro], a new unstable alpha 2-chain variant associated with a mild alpha-thalassaemic phenotype., British journal of haematology, 94(3), 483-5, 1996
  2. Harteveld KL, Heister AJ, Giordano PC, Losekoot M, Bernini LF, Rapid detection of point mutations and polymorphisms of the alpha-globin genes by DGGE and SSCA., Hum. Mutat. , 7(2), 114-22, 1996
Created on 2010-06-16 16:13:15, Last reviewed on 2018-05-16 18:38:22 (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.