IthaID: 623
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 77 CCC>CGC [Pro>Arg] | HGVS Name: | HBA1:c.233C>G | HBA2:c.233C>G |
| Hb Name: | Hb GuiZhou | Protein Info: | α2 or α1 77(EF6) Pro>Arg |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GCCGTGGCGCACGTGGACGACATGC [A/C/G] CAACGCGCTGTCCGCCCTGAGCGAC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMRNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | 34125 or 37929 |
| Size: | 1 bp or 1 bp |
| Located at: | α1 or α2 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Japanese, Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Liang CC, Xiong F, Yang KG, Chen SS, Jia PC, Zhang MQ, Zhao ZH, Hemoglobin GuiZhou or alpha 277(EF6)Pro----Arg beta 2, a new slow-moving hemoglobin variant observed in China., Hemoglobin , 8(4), 387-90, 1984
- Hattori Y, Ohba Y, Suda T, Miura Y, Yoshinaka H, Miyaji T, Hemoglobin GuiZhou in Japan., Hemoglobin , 9(2), 187-92, 1985
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-04-10 10:27:58 (Show full history)
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