IthaID: 763
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 135 GTG>ATG [Val>Glu] | HGVS Name: | HBA1:c.407T>A | HBA2:c.407T>A |
| Hb Name: | Hb Pavie | Protein Info: | α2 or α1 135(H18) Val>Glu |
Context nucleotide sequence:
AAGTTCCTGGCTTCTGTGAGCACCG [A/T] GCTGACCTCCAAATACCGTTAAGCT (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTELTSKYR
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | Decreased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 38252 |
| Size: | 1 bp |
| Located at: | α1 or α2 |
| Specific Location: | N/A |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Italian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Wajcman H, Blouquit Y, Riou J, Kister J, Poyart C, Soria J, Galacteros F, A new hemoglobin variant found during investigations of diabetes mellitus: Hb Pavie [alpha 135 (H18) Val----Glu]., Clin. Chim. Acta , 188(1), 39-47, 1990
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-04-15 12:13:32 (Show full history)
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