IthaID: 519


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
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

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

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

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

Other details

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

In silico pathogenicity prediction

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
  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
  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
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-18 15:10:46 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.