IthaID: 678
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 94 GAC>GGC [Asp>Gly] | HGVS Name: | HBA1:c.284A>G |
| Hb Name: | Hb Çapa | Protein Info: | α1 94(G1) Asp>Gly |
Context nucleotide sequence:
CTGCACGCGCACAAGCTTCGGGTGG [A/C/G] CCCGGTCAACTTCAAGGTGAGCGGC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVGPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | Unstable |
| Oxygen Affinity: | Decreased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37980 |
| 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: | Turkish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Dinçol G, Dinçol K, Erdem S, Pobedimskaya DD, Molchanova TP, Ye Z, Webber BB, Wilson JB, Huisman TH, Hb Capa or alpha (2)94(G1)Asp-->Gly beta 2, a mildly unstable variant with an A-->G (GAC-->GGC) mutation in codon 94 of the alpha 1-globin gene., Hemoglobin , 18(1), 57-60, 1994
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-04-14 13:05:34 (Show full history)
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