IthaID: 2507
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 94 GAC>AAC [Asp>Asn] | HGVS Name: | HBA1:c.283G>A |
| Hb Name: | Hb Titusville | Protein Info: | α1 94(G1) Asp>Asn |
Context nucleotide sequence:
CCTGCACGCGCACAAGCTTCGGGTG [A/C/G/T] ACCCGGTCAACTTCAAGGTGAGCGG (Strand: +)
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: | Decreased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37979 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Scottish, Scandinavian |
| 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
- Schneider RG, Atkins RJ, Hosty TS, Tomlin G, Casey R, Lehmann H, Lorkin PA, Nagai K, Haemoglobin Titusville: alpha94 Asp replaced by Asn. A new haemoglobin with a lowered affinity for oxygen., Biochim. Biophys. Acta , 400(2), 365-73, 1975 PubMed
- Deyell R, Jackson S, Spier S, Le D, Poon MC, Low oxygen saturation by pulse oximetry may be associated with a low oxygen affinity hemoglobin variant, hemoglobin Titusville., J. Pediatr. Hematol. Oncol., 28(2), 100-2, 2006 PubMed
- Moradkhani K, Préhu C, Old J, Henderson S, Balamitsa V, Luo HY, Poon MC, Chui DH, Wajcman H, Patrinos GP, Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants., Ann. Hematol. , 88(6), 535-43, 2009 PubMed
Created on 2014-06-05 12:08:11,
Last reviewed on 2020-01-31 09:18:36 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2014-06-05 12:08:11 | The IthaGenes Curation Team | Created |
| 2 | 2020-01-31 09:18:36 | The IthaGenes Curation Team | Reviewed. Reference added |
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IthaGenes was last updated on 2024-11-20 13:24:07