IthaID: 948
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 42 TTT>GTT | HGVS Name: | HBB:c.127T>G |
| Hb Name: | Hb Sendagi | Protein Info: | β 42(CD1) Phe>Val |
Context nucleotide sequence:
GGTCTACCCTTGGACCCAGAGGTTC [C/G/T] TTGAGTCCTTTGGGGATCTGTCCAC (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFVESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as: Hb Warsaw
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: | Decreased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70851 |
| 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: | American | Japanese | Polish |
| Molecular mechanism: | Altered heme pocket |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- Ogata K, Ito T, Okazaki T, Dan K, Nomura T, Nozawa Y, Kajita A, Hemoglobin Sendagi (beta 42 Phe----Val): a new unstable hemoglobin variant having an amino acid substitution at CD1 of the beta-chain., Hemoglobin, 10(5), 469-81, 1986 PubMed
- Honig GR, Telfer MC, Rosenblum BB, Vida LN, Hb Warsaw (beta 42 Phe----Val): an unstable hemoglobin with decreased oxygen affinity. I. Hematologic and clinical expression., Am. J. Hematol., 32(1), 36-41, 1989 PubMed
- Honig GR, Vida LN, Rosenblum BB, Perutz MF, Fermi G, Hemoglobin Warsaw (Phe beta 42(CD1)----Val), an unstable variant with decreased oxygen affinity. Characterization of its synthesis, functional properties, and structure., J. Biol. Chem., 265(1), 126-32, 1990 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2020-02-24 09:32:57 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2020-02-24 09:32:57 | The IthaGenes Curation Team | Reviewed. Synonym and additional references added. |
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IthaGenes was last updated on 2024-04-18 10:10:45