IthaID: 1285
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 141 CTG>GTG; CD 144 AAG>TAG | HGVS Name: | HBB:c.[424C>G;433A>T] |
| Hb Name: | Hb Kochi | Protein Info: | β 141(H19) Leu>Val AND β 144(HC1) Lys-Tyr-His->0 |
Context nucleotide sequence:
TGGTGTGGCTAATGCCCTGGCCCAC [A/G/T] AGTATCACTAAGCTCGCTTTCTTGC (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANAVAHKYH
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71998 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
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: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Miyazaki A, Nakanishi T, Shimizu A, Mizobuchi M, Yamada Y, Imai K, Hb KOCHI [beta141(H19)Leu-->Val (g.1404 C-->G); 144-->146(HC1-3)Lys-Tyr-His-->0 (g.1413 A-->T)]: a new variant with increased oxygen affinity., Hemoglobin, 29(1), 1-10, 2005
Created on 2010-06-16 16:13:17,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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