IthaID: 752
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 131 TCT>TTT | HGVS Name: | HBA1:c.395C>T |
| Hb Name: | Hb Lusaka | Protein Info: | α1 131(H14) Ser>Phe |
Context nucleotide sequence:
GCCTCCCTGGACAAGTTCCTGGCTT [C/T] TGTGAGCACCGTGCTGACCTCCAAA (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLAFVSTVLTSKYR
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: | 38240 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Zambian |
| Molecular mechanism: | Disrupted AHSP binding |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Brennan SO, Chan T, Sheen C, Rae L, Hb Lusaka [alpha131(H14)Ser-->phe (alpha1)]: a new variant found in a woman heterozygous for Hb S [beta6(A3)G1u-->Val]., Hemoglobin , 27(3), 177-80, 2003
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-04-15 11:04:43 (Show full history)
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