IthaID: 1029
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 69 (+GCTCGG) | HGVS Name: | HBB:c.204_209dupGCTCGG |
| Hb Name: | Hb Nishinomiya | Protein Info: | β 69(E13) Gly->0 AND Gly-Leu-Gly- inserted between 68(E12) and 70(E14) of β |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
AGGCTCATGGCAAGAAAGTGCTCGG [-/GCTCGG] TGCCTTTAGTGATGGCCTGGCTCAC (Strand: -)
Comments: Found in a patient with spherocytic hemolysis. This mutation resulted in the insertion of two amino acid residues β69GGT(Gly)>GGG(Gly)CTC(Leu)GGT(Gly). Insertion of Leu-Gly between positions 69(E13) and 70(E14) of the chain alters the amino acid residues of helix E in and around the heme pocket. Amino acid substitutions around position 70-73(E14-17) of the chain are likely to alter stability and oxygen affinity.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70928 |
| Size: | 5 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Insertion) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Japanese |
| Molecular mechanism: | Altered secondary structure |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Naito Y, Takahashi T, Matsunashi T, Harano K, Harano T, Hb Nishinomiya [Leu-Gly-inserted between codons 69(E13) and 70(E14) of beta]: a novel unstable hemoglobin with reduced oxygen affinity found in a patient with spherocytic hemolysis., International journal of hematology, 76(2), 146-8, 2002
Created on 2010-06-16 16:13:16,
Last reviewed on 2019-11-13 10:02:17 (Show full history)
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