IthaID: 1051
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 75 CTG>CCG | HGVS Name: | HBB:c.227T>C |
| Hb Name: | Hb Atlanta | Protein Info: | β 75(E19) Leu>Pro |
Context nucleotide sequence:
GTGCTCGGTGCCTTTAGTGATGGCC [C/G/T] GGCTCACCTGGACAACCTCAAGGGC (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGPAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: Autosomal dominant for unstable hemoglobin disease (MONDO:0020459).
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: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70951 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Caucasian | Dutch | New Zealand |
| Molecular mechanism: | Altered secondary structure |
| Inheritance: | Dominant |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Hubbard M, Winton EF, Lindeman JG, Dessauer PL, Wilson JB, Wrightstone RN, Huisman TH, Hemoglobin Atlanta or alpha 2 beta 2 75 Leu-Pro (E19): an unstable variant found in several members of a Caucasian family., Biochimica et biophysica acta, 386(2), 538-41, 1975
Created on 2010-06-16 16:13:16,
Last reviewed on 2022-10-24 10:21:31 (Show full history)
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