IthaID: 3271
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 119 CCT>GCT [Pro>Ala] | HGVS Name: | HBA2:c.358C>G |
| Hb Name: | Hb Arcadia | Protein Info: | α2 119(H2) Pro>Ala |
Context nucleotide sequence:
TGGCCGCCCACCTCCCCGCCGAGTTCACC [C/G] CTGCGGTGCACGCCTCCCTGGACAAGTTC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTAAVHASLDKFLASVSTVLTSKYR
Also known as: Hb Lakeview Terrace
Comments: Co-inherited with SEA deletion, red cell indices are consistent with this finding. HPLC findings, appears as shoulder of Hb A peak (Primus Resolution). Recently, the variant reported in compound heterozygosity with Hb D-Los Angeles [IthaID: 1217] in a 11-month old infant presented with Hb 12.1 g/dL, MCH 24.1 pg, MCHC 33.8 g/dL, MCV 71.3 fL and RBC 5.02 10^12/L.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
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: | 34392 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Daniel, Yvonne | 2017-10-26 | First report. |
| 2 | Monteiro, Daniel | 2017-10-26 | First report. |