IthaID: 1417
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 20 GTG>GCG | HGVS Name: | HBG2:c.62T>C |
| Hb Name: | Hb F-Bron | Protein Info: | Gγ 20(B2) Val>Ala |
Context nucleotide sequence:
ACAAGCCTGTGGGGCAAGGTGAATG [C/T] GGAAGATGCTGGAGGAGAAACCCTG (Strand: -)
Protein sequence:
MGHFTEEDKATITSLWGKVNAEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | γ-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 42949 |
| Size: | 1 bp |
| Located at: | Gγ |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | French |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Lacan P, Burnichon N, Becchi M, Zanella-Cleon I, Aubry M, Couprie N, Francina A, A new G(gamma) chain variant: Hb F-Bron [gamma20(B2)val-->Ala]., Hemoglobin, 29(4), 301-5, 2005
Created on 2010-06-16 16:13:17,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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