IthaID: 766



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 136 CTG>CGG [Leu>Arg] HGVS Name: HBA1:c.410T>G | HBA2:c.410T>G
Hb Name: Hb Toyama Protein Info: α2 or α1 136(H19) Leu>Arg

Context nucleotide sequence:
TTCCTGGCTTCTGTGAGCACCGTGC [C/G/T] GACCTCCAAATACCGTTAAGCTGGA (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVRTSKYR

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34444 or 38255
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: N/A 0

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]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Japanese
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Ohba Y, Yamamoto K, Hattori Y, Kawata R, Miyaji T, Hyperunstable hemoglobin Toyama [alpha 2 136(H19)Leu----Arg beta 2]: detection and identification by in vitro biosynthesis with radioactive amino acids., Hemoglobin , 11(6), 539-56, 1987 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-15 12:20:52 (Show full history)

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