IthaID: 519



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 40 AAG>GAG [Lys>Glu] HGVS Name: HBA1:c.121A>G | HBA2:c.121A>G
Hb Name: Hb Kariya Protein Info: α2 or α1 40(C5) Lys>Glu

Context nucleotide sequence:
GATGTTCCTGTCCTTCCCCACCACC [A/C/G] AGACCTACTTCCCGCACTTCGACCT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTETYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34013 or 37817
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: Unstable
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: Caucasian, Japanese
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Harano T, Harano K, Shibata S, Ueda S, Imai K, Tsuneshige A, Yamada H, Seki M, Fukui H, Hemoglobin Kariya [alpha 40 (C5) Lys leads to Glu]: a new hemoglobin variant with an increased oxygen affinity., FEBS Lett. , 153(2), 332-4, 1983 PubMed
  2. Nakatsuji T, Headlee MG, Huisman TH, Hemoglobin Kariya or alpha 240(C5)Lys----Glu beta 2 in a Caucasian family from South Carolina., Hemoglobin , 8(4), 401-5, 1984 PubMed
  3. Imai K, Tsuneshige A, Harano T, Harano K, Structure-function relationships in hemoglobin Kariya, Lys-40(C5) alpha----Glu, with high oxygen affinity. Functional role of the salt bridge between Lys-40 alpha and the beta chain COOH terminus., J. Biol. Chem. , 264(19), 11174-80, 1989 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-18 15:10:46 (Show full history)

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