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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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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 PubMed
- 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 PubMed
Created on 2010-06-16 16:13:17,
Last reviewed on 2023-02-21 11:50:35 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:17 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2020-12-17 23:04:28 | The IthaGenes Curation Team | Reviewed. Reference added. |
| 4 | 2023-02-21 10:57:31 | The IthaGenes Curation Team | Reviewed. DNA info edited, Link added |
| 5 | 2023-02-21 11:50:35 | The IthaGenes Curation Team | Reviewed. Comment added. |
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IthaGenes was last updated on 2024-11-20 13:24:07