IthaID: 768
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 138 TCC>CCC [Ser>Pro] | HGVS Name: | HBA1:c.415T>C | HBA2:c.415T>C |
| Hb Name: | Hb Attleboro | Protein Info: | α2 or α1 138(H21) Ser>Pro |
Context nucleotide sequence:
GGCTTCTGTGAGCACCGTGCTGACC [C/T] CCAAATACCGTTAAGCTGGAGCCTC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTPKYR
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34449 or 38260 |
| Size: | 1 bp or 1 bp |
| Located at: | α1 or α2 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | N/A |
| Molecular mechanism: | Altered secondary structure |
| 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.
Sequence Viewer
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Publications / Origin
- McDonald MJ, Michalski LA, Turci SM, Guillette RA, Jue DL, Johnson MH, Moo-Penn WF, Structural, functional, and subunit assembly properties of hemoglobin Attleboro [alpha 138 (H21) Ser----Pro], a variant possessing a site maturation at a critical C-terminal residue., Biochemistry , 29(1), 173-8, 1990 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2015-01-08 16:23:59 (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 | 2014-04-15 12:26:12 | The IthaGenes Curation Team | Reviewed. Added common name, allele and clinical phenotype, reference and ClinVar link. |
| 4 | 2015-01-08 16:23:59 | The IthaGenes Curation Team | Reviewed. Common name corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07