IthaID: 976
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 52 GAT>CAT | HGVS Name: | HBB:c.157G>C |
| Hb Name: | Hb Summer Hill | Protein Info: | β 52(D3) Asp>His |
Context nucleotide sequence:
GTCCTTTGGGGATCTGTCCACTCCT [A/C/G/T] ATGCTGTTATGGGCAACCCTAAGGT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPHAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
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: | 70881 |
| 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: | Lebanese | Turkish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
HPLC
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To access HPLC images and reports for different variants, use the IthaChrom tool.
| ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| 224 | Hb Summer Hill | β | D-10 | Dual Kit Program | 35.8 | 3.88 | Heterozygote. Clinically normal. Elutes in HbS window. | [PDF] | |
| 225 | Hb Summer Hill | β | VARIANT | β-thal Short Program | 38.4 | 4.24 | Heterozygote. Clinically normal. Elutes in HbS window. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- Cin S, Akar N, Cavdar AO, Arcasoy A, Dedeoglu S, Webber B, Lam H, Huisman TH, Hb Summer Hill or alpha 2 beta 2(52)(D3)Asp replaced by His in a Turkish family from Cyprus., Hemoglobin, 7(5), 467-70, 1983
Created on 2010-06-16 16:13:16,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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