IthaID: 412



Names and Sequences

Functionality: Globin gene causative mutation
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

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34423
Size: 1 bp
Located at: α2
Specific Location: Exon 3

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]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Dutch, Indonesian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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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 PubMed
  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 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2018-05-16 18:38:22 (Show full history)

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