IthaID: 4143
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 138 TCC>TGC [Ser>Cys] | HGVS Name: | HBA2:c.416C>G |
| Hb Name: | Hb Ecuador [A2] | Protein Info: | α2 138(H21) Ser>Cys |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GCTTCTGTGAGCACCGTGCTGACCT [C>G] CAAATACCGTTAAGCTGGAGCCT (Strand: -)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTCKYR
Comments: The c.416C>G [p.Ser139Cys] variant is located in exon 3 of the HBA2 gene. It was incidentally identified in a 57-year-old man during diabetes evaluation, in the heterozygous state, and clinically asymptomatic with normochromic normocytosis. The hematological parameters were as follows: Hb 15.3 g/dL, Hb A2 1.6%, MCH 30.6 pg, MCV 92.8 fL, RBC 5 × 10^12/L, and HbX 20.4% of total Hb. The abnormal Hb variant (HbX) was detected by capillary electrophoresis and cation exchange HPLC.
External Links
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: | 34450 |
| 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: | Italian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!