IthaID: 1153
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 102 AAC>ACC [Asn>Thr] | HGVS Name: | HBB:c.308A>C |
| Hb Name: | Hb Kansas | Protein Info: | β 102(G4) Asn>Thr |
Context nucleotide sequence:
GACAAGCTGCACGTGGATCCTGAGA [A/C/G] CTTCAGGGTGAGTCTATGGGACGCT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPETFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as: Hb Reissmann
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: | 71032 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Japanese |
| Molecular mechanism: | Altered α1β1 interface |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- REISSMANN KR, RUTH WE, NOMURA T, A human hemoglobin with lowered oxygen affinity and impaired heme-heme interactions., J. Clin. Invest. , 40(0), 1826-33, 1961
- Bonaventura J, Riggs A, Hemoglobin Kansas, a human hemoglobin with a neutral amino acid substitution and an abnormal oxygen equilibrium., J. Biol. Chem. , 243(5), 980-91, 1968
- Bunn HF, Subunit dissociation of certain abnormal human hemoglobins., J. Clin. Invest. , 48(1), 126-38, 1969
- Gibson QH, Riggs A, Imamura T, Kinetic and equilibrium properties of hemoglobin Kansas., J. Biol. Chem. , 248(17), 5976-86, 1973
- Ishiguro K, Ohba Y, Hattori Y, Miyaji T, Oshida Y, Tachinami T, Takabatake S, Nakaizumi K, Hemoglobin Kansas in a Japanese family., Hemoglobin, 7(6), 573-9, 1983
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-05-23 11:45:56 (Show full history)
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