IthaID: 1121
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 95 AAG>AAY [Lys>Asn] | HGVS Name: | HBB:c.288G>Y |
| Hb Name: | Hb Detroit | Protein Info: | β 95(FG2) Lys>Asn |
Context nucleotide sequence:
CACTGAGTGAGCTGCACTGTGACAA [G>C] CTGCACGTGGATCCTGAGAACTTCA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDNLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: Reported as a β95 (FG2) Lys>Asn [AAG>AAC or AAT] change by amino acid analysis in a female subject from India without hematological abnormalities. The variant Hb was detected by cellulose acetate electrophoresis and column chromatography on DEAE-Sephadex. It was shown to migrate between Hb A and Hb J Baltimore. Could not be detected by electrophoresis on citrate agar gel. Hb stability tests and oxygen affinity studies were normal.
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: | 71012 |
| 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: | Indian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Moo-Penn WF, Schneider RG, Andrian S, Das DK, Hemoglobin Detroit: beta95 (FG2) lysine leads to asparagine., Biochimica et biophysica acta, 536(1), 283-8, 1978