IthaID: 642


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 85 GAC>GTC [Asp>Val] HGVS Name: HBA2:c.257A>T
Hb Name: Hb Inkster Protein Info: α2 85(F6) Asp>Val

Context nucleotide sequence:
CCCAACGCGCTGTCCGCCCTGAGCG [A/G/T] CCTGCACGCGCACAAGCTTCGGGTG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSVLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34149
Size: 1 bp
Located at: α2
Specific Location: Exon 2

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: African, English, German
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Reed RE, Winter WP, Rucknagel DL, Haemoglobin inkster (alpha2 85aspartic acid leads to valine beta2) coexisting with beta-thalassaemia in a Caucasian family., Br. J. Haematol. , 26(3), 475-84, 1974
  2. Molchanova TP, Pobedimskaya DD, Huisman TH, The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes., Br. J. Haematol. , 88(2), 300-6, 1994
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-12 19:30:37 (Show full history)

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