IthaID: 2308
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 87 CAC>CAG [His>Gln] | HGVS Name: | HBA2:c.264C>G |
| Hb Name: | Hb Lansing | Protein Info: | α2 87(F8) His>Gln |
Context nucleotide sequence:
CGCTGTCCGCCCTGAGCGACCTGCA [C/G] GCGCACAAGCTTCGGGTGGACCCGG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLQAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34156 |
| 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: | Mexican |
| Molecular mechanism: | Altered heme pocket |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Sarikonda KV, Ribeiro RS, Herrick JL, Hoyer JD, Hemoglobin lansing: a novel hemoglobin variant causing falsely decreased oxygen saturation by pulse oximetry., Am. J. Hematol. , 84(8), 541, 2009
Created on 2014-01-08 17:42:29,
Last reviewed on 2015-01-12 12:31:24 (Show full history)
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