IthaID: 674
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 94 GAC>AAC [Asp>Asn] | HGVS Name: | HBA2:c.283G>A |
| Hb Name: | Hb Titusville | Protein Info: | α2 94(G1) Asp>Asn |
Context nucleotide sequence:
CCTGCACGCGCACAAGCTTCGGGTG [A/C/G/T] ACCCGGTCAACTTCAAGGTGAGCGG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVNPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | 34175 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | African, Scandinavian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
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
- Luo HY, Irving I, Prior J, Lim E, Eung SH, Skelton TP, Erber WN, Steinberg MH, Chui DH, Hemoglobin Titusville, a low oxygen affinity variant hemoglobin, in a family of Northern European background., Am. J. Hematol. , 77(4), 384-6, 2004
- 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
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-06-05 12:08:59 (Show full history)
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