IthaID: 2544
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 40 AGG>ACG [Arg>Thr] | HGVS Name: | HBB:c.122G>C |
| Hb Name: | Hb Alcorn County | Protein Info: | β 40(C6) Arg>Thr |
Context nucleotide sequence:
CTGGTGGTCTACCCTTGGACCCAGA [G/C] GTTCTTTGAGTCCTTTGGGGATCTG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQTFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: Reported as a heterozygous haemoglobin (Hb) variant in a 6-month-old Hispanic male and his mother. The β40 site of the mutation for Hb Alcorn County lies at the α1β2 contact region, which is involved in cooperativity and oxygen affinity, and is in the same position as that of Hb Austin and Hb Athens-GA, both of which show increased oxygen affinity. The proband's P50 was low, consistent with increased Hb oxygen affinity.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Unstable |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70846 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | American Indian, Irish, Hispanic |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Luu HS, McCavit TL, Park JY, Mitui M, Lopez DD, Timmons CF, Hb Alcorn County: A β-Globin Variant [β40(C6)Arg→Thr; : c.122G>C (p.Arg41Thr)] with Increased Oxygen Affinity., Hemoglobin, 43(3), 204-206, 2019