IthaID: 1301
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 143 CAC>CAA or CAG [His>Gln] | HGVS Name: | HBB:c.432C>A | HBB:c.432C>G |
| Hb Name: | Hb Little Rock | Protein Info: | β 143(H21) His>Gln |
Context nucleotide sequence:
CTGGTGTGGCTAATGCCCTGGCCCA [C/A/G] AAGTATCACTAAGCTCGCTTTCTTG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAQKYH
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: | 72006 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | American |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Bare GH, Alben JO, Bromberg PA, Jones RT, Brinhall B, Padilla F, Hemoglobin Little Rock (beta143 (H21) His leads to Gln). Effects of an amino acid substitution at the 2,3-diphosphoglycerate binding site., The Journal of biological chemistry, 249(3), 773-9, 1974
Created on 2010-06-16 16:13:17,
Last reviewed on 2021-02-16 12:06:11 (Show full history)
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