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
Sequence Viewer
Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI.
Therefore, IthaGenes has no responsibility over any temporary unavailability of the service.
In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
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 PubMed
- Hattori Y, Ohba Y, Suda T, Miura Y, Yoshinaka H, Miyaji T, Hemoglobin GuiZhou in Japan., Hemoglobin , 9(2), 187-92, 1985 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-04-10 10:27:58 (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.