IthaID: 1210
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 119 GGC>GAC [Gly>Asp] | HGVS Name: | HBB:c.359G>A |
| Hb Name: | Hb Fannin-Lubbock I | Protein Info: | β 119(GH2) Gly>Asp |
Context nucleotide sequence:
GTCTGTGTGCTGGCCCATCACTTTG [G>A] CAAAGAATTCACCCCACCAGTGCAG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFDKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: Variant is located at the α1β1 contact and results in mild instability.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71933 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | American | Mexican | Spanish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Moo-Penn WF, Bechtel KC, Johnson MH, Jue DL, Therrell BL, Morrison BY, Schmidt RM, Hemoglobin Fannin-Lubbock [alpha2 beta 2 119 (GH2) Gly replaced by Asp]. A new hemoglobin variant at the alpha1 beta 1 contact., Biochimica et biophysica acta, 453(2), 472-7, 1976
- Ibarra B, Aizpuru E, Sánchez-López JY, Morales KR, Perea FJ, Ruiz-Reyes G, HB Fannin-Lubbock-I with a single GGC>GAC mutation at beta119(GH2)Gly-->Asp in a homozygous Mexican patient., Hemoglobin, 33(6), 492-7, 2009
Created on 2010-06-16 16:13:17,
Last reviewed on 2023-02-21 11:50:35 (Show full history)
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