IthaID: 3306
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 25/26 -GTG [-Gly] | HGVS Name: | HBB:c.77_79delGTG |
| Hb Name: | Hb M Dothan | Protein Info: | β 25(B7) - 26(B8) Gly-Glu->0 AND inserted Glu |
Context nucleotide sequence:
CAAGGTGAACGTGGATGAAGTTGGTG [-/GTG] AGGCCCTGGGCAGGTTGGTATCAA (Strand: -)
Also known as: Hb Higashitochigi, Hb HT
Comments: Hb M-Dothan associates with the methemoglobin (Met-Hb) phenotype due to a 3 bp deletion causing a single amino acid [-Gly] deletion in the B-helix (B7/B8) of the β globin chain. The in-frame deletion disrupts the close spatial relation between the helical segments B and E and, as a result, indirectly distorts the heme pocket on the E-helix. Found in a young Japanese boy and a 9-months American boy, both presenting with cyanosis.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | Methemoglobinaemia |
| Stability: | Unstable |
| Oxygen Affinity: | Decreased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70671 |
| Size: | 3 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Japanese, American |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
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
- Fujisawa K, Yamashiro Y, Hattori Y, Ohha Y, Kajita T, Kageyama S, Arita J, Hb Higashitochigi (Hb Ht) [ beta 24(B6) or beta 25(B7) glycine deleted]: a new unstable variant expressing cyanosis., Hemoglobin, 17(5), 467-73, 1993 PubMed
- Kutlar F, Hilliard LM, Zhuang L, Patel N, Eroglu B, Meiler SE, Carmichael H, Russell RB, Kutlar A, Hb M Dothan [beta 25/26 (B7/B8)/(GGT/GAG-->GAG//Gly/Glu-->Glu]; a new mechanism of unstable methemoglobin variant and molecular characteristics., Blood Cells Mol. Dis. , 43(3), 235-8, 2009 PubMed
Created on 2018-02-06 17:23:02,
Last reviewed on 2024-03-07 11:08:32 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2018-02-06 17:23:02 | The IthaGenes Curation Team | Created |
| 2 | 2021-01-13 08:15:42 | The IthaGenes Curation Team | Reviewed. Merged with IthaID: 884. |
| 3 | 2024-03-07 11:08:32 | The IthaGenes Curation Team | Reviewed. Chromosome location corrected. |
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IthaGenes was last updated on 2024-04-18 10:10:45