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
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
- 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
- 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
Created on 2010-06-16 16:13:16,
Last reviewed on 2020-02-24 09:32:57 (Show full history)
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