IthaID: 874
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 22 GAA>AAA | HGVS Name: | HBB:c.67G>A |
| Hb Name: | Hb E-Saskatoon | Protein Info: | β 22(B4) Glu>Lys |
Context nucleotide sequence:
CCTGTGGGGCAAGGTGAACGTGGAT [A/C/G/T] AAGTTGGTGGTGAGGCCCTGGGCAG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDKVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
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: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70661 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Greek, Japanese, Scottish, Turkish, Brazilian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Tills D, Muir V, Warlow A, Hopkinson DA, Lorkin PA, El-Hazmi MA, Lehmann H, The occurrence of Hb E Saskatoon in Scotland., Human genetics, 33(2), 179-80, 1976
- Igarashi Y, Matsuzaki S, Kanou N, Inami S, Nakamura T, Kasai K, Fushitani K, The first case of Hb E-Saskatoon [alpha 2 beta(2)22(B4)Glu-->Lys] in a Japanese male in Asia., Hemoglobin, 19(6), 403-6, 1995
- Birben E, Oner R, Oner C, Gümrük F, Gürgey A, Altay C, Homozygosity for Hb E-Saskatoon [beta22(B4)Glu-->Lys] in a Turkish patient., Hemoglobin, 25(4), 409-15, 2001
Created on 2010-06-16 16:13:16,
Last reviewed on 2020-11-17 08:15:10 (Show full history)
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