IthaID: 695
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 103 CAC>TAC [His>Tyr] | HGVS Name: | HBA1:c.310C>T |
| Hb Name: | Hb Charolles | Protein Info: | α1 103(G10) His>Tyr |
Context nucleotide sequence:
CCTCTTCTCTGCACAGCTCCTAAGC [C/T] ACTGCCTGCTGGTGACCCTGGCCGC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSYCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Discovered in a person of Sardinian origin with microcytosis and hypochromia, which could be explained by the presence of the poly A mutation HBA2:c.*94A>G. Hb Charolles accounted for 11% of the total hemoglobin. While the histidine residue at position α103(G10) is known to be involved in the α1β1 interchain contacts (Hb Contaldo [IthaID: 698]), there is no evidence to suggest that Hb Charolles alters α1β1 interface to yield unstable haemoglobin.
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: | 38155 |
| 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: | Sardinian |
| Molecular mechanism: | Altered α1β1 interface |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Lacan P, Francina A, Souillet G, Aubry M, Couprie N, Dementhon L, Becchi M, Two new alpha chain variants: Hb Boghé [alpha58(E7)His-->Gln, alpha2], a variant on the distal histidine, and Hb CHarolles [alpha103(G10)His-Tyr, alpha1]., Hemoglobin , 23(4), 345-52, 1999
- Thom CS, Dickson CF, Gell DA, Weiss MJ, Hemoglobin variants: biochemical properties and clinical correlates., Cold Spring Harb Perspect Med, 3(3), a011858, 2013