IthaID: 745
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 127 AAG>AAT or AAC [Lys>Asn] | HGVS Name: | HBA1:c.384G>C | HBA1:c.384G>T | HBA2:c.384G>C | HBA2:c.384G>T |
| Hb Name: | Hb Jackson | Protein Info: | α2 or α1 127(H10) Lys>Asn |
Context nucleotide sequence:
CTGCGGTGCACGCCTCCCTGGACAA [C/G/T] TTCCTGGCTTCTGTGAGCACCGTGC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDNFLASVSTVLTSKYR
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: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34418 or 38229 |
| 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: | African |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Moo-Penn WF, Bechtel KC, Johnson MH, Jue DL, Holland S, Huff C, Schmidt RM, Hemoglobin Jackson, alpha 127 (H10) Lys replaced by Asn., Am. J. Clin. Pathol. , 66(2), 453-6, 1976
- Lam H, Webber BB, Wilson JB, Huisman TH, Identification of the alpha chain abnormal hemoglobin Jackson (alpha 127 Lys leads to Asn) after isolation of the core peptide by high-performance liquid chromatography., J. Chromatogr. , 269(2), 119-22, 1983
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-04-15 09:52:38 (Show full history)
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