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.
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
- 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
- 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
- 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)
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