IthaID: 989
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
---|---|---|---|
Common Name: | CD 56-60 (-12bp) | HGVS Name: | HBB:c.170_181del |
Hb Name: | Hb Tochigi | Protein Info: | β 56(D7) - 59(E3) Gly-Asn-Pro-Lys->0 |
Context nucleotide sequence:
TGTCCACTCCTGATGCTGTTATGG [-/GCAACCCTAAGG] TGAAGGCTCATGGCAAGAAAGT (Strand: -)
Also known as:
Comments: Found in three members of a Japanese family. Reported in literature as HBB:c.169_180delGGCAACCCTAAG, which does not follow the HGVS Sequence Variant Nomeclature recommendations.
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: | N/A |
Associated Phenotypes: | N/A |
Location
Chromosome: | 11 |
---|---|
Locus: | NG_000007.3 |
Locus Location: | 70894 |
Size: | 12 bp |
Located at: | β |
Specific Location: | Exon 2 |
Other details
Type of Mutation: | Point-Mutation(Deletion) |
---|---|
Effect on Gene/Protein Function: | Frameshift (Translation) |
Ethnic Origin: | Japanese |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | No |
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.
Publications / Origin
- Yamada K, Shinkai N, Nakazawa S, Yamada Z, Saito K, Hemoglobin Tochigi disease, a new unstable hemoglobin hemolytic anemia found in a Japanese family., Nippon Ketsueki Gakkai zasshi : journal of Japan Haematological Society, 34(4), 484-97, 1971
Created on 2010-06-16 16:13:16,
Last reviewed on 2019-11-11 12:56:56 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
3 | 2019-11-11 12:56:56 | The IthaGenes Curation Team | Reviewed. Mutation names, type, location and DNA info corrected. Comment added. |
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IthaGenes was last updated on 2024-12-03 11:48:06