IthaID: 3378
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 114 CCC>CAC [Pro>His] | HGVS Name: | HBA1:c.344C>A |
| Hb Name: | Hb Hubei | Protein Info: | α1 114(GH2) Pro>His |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CTGGTGACCCTGGCCGCCCACCTCC [C>A] CGCCGAGTTCACCCCTGCGGTGCAC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLHAEFTPAVHASLDKFLASVSTVLTSKYR
Comments: Found in a heterozygous state. The mutation caused a substitution of proline to histidine at position 114 that involved α1β1 interactions. The mutation Prο>His may change the GH2 corner of the α-globin chain and hydrophobicity of this part of the chain.
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: | 38189 |
| 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: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
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Publications / Origin
- Xu AP, Li J, Chen WD, Zhou Y, Ji L, Hb Hubei [α114(GH2)Pro→His, HBA1: c.344C>A]: A Novel Hemoglobin Variant of the α1-Globin Chain., Hemoglobin, 42(3), 206-208, 2018 PubMed
Created on 2019-04-08 09:50:24,
Last reviewed on 2019-04-08 15:37:07 (Show full history)
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