IthaID: 575


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 59 GGC>GTC [Gly>Val] HGVS Name: HBA1:c.179G>T | HBA2:c.179G>T
Hb Name: Hb Tottori Protein Info: α2 or α1 59(E8) Gly>Val

Context nucleotide sequence:
GGCTCTGCCCAGGTTAAGGGCCACG [A/C/G/T] CAAGAAGGTGGCCGACGCGCTGACC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHVKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

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: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34071 or 37875
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Nakatsuji T, Miwa S, Ohba Y, Miyaji T, Matsumoto N, Matsuoka I, Hemoglobin Tottori (alpha 59[E8] glycine replaced by valine)., Hemoglobin , 5(5), 427-39, 1981
Created on 2010-06-16 16:13:15, Last reviewed on 2014-04-09 18:00:45 (Show full history)

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