IthaID: 3371
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 78 CTG>CCG [Leu>Pro] | HGVS Name: | HBB:c.236T>C |
| Hb Name: | Hb Penang | Protein Info: | β 78(EF2) Leu>Pro |
Context nucleotide sequence:
GCCTTTAGTGATGGCCTGGCTCACC [T/C] GGACAACCTCAAGGGCACCTTTGCC (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHPDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: Found as a heterozygote in an otherwise healthy and asymptomatic individual. Perceived as a clinically benign variant, pending assessment in compound heterozygosity with other β-globin variants. The Hb Penang substitution is found within a linking region between helices that may be better able to tolerate deviation in secondary structure.
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: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70960 |
| 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: | Southeast Asian |
| Molecular mechanism: | Altered secondary structure |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Hsu CH, Langdown J, Lynn R, Fisher C, Rose A, Proven M, Eglinton J, Besser MW, Hb Penang [β78(EF2)Leu→Pro, HBB: c.236T>C]: a Novel β-Globin Variant., Hemoglobin, 42(3), 199-202, 2018