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 |
Context nucleotide sequence:
CTGGTGACCCTGGCCGCCCACCTCC [C>A] CGCCGAGTTCACCCCTGCGGTGCAC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLHAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
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.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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
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
Created on 2019-04-08 09:50:24,
Last reviewed on 2019-04-08 15:37:07 (Show full history)
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.