IthaID: 1179
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 111 GTC>CTC, CD 119 GGC>GAC | HGVS Name: | HBB:c.[334G>C;359G>A] |
| Hb Name: | Hb Fannin-Lubbock II | Protein Info: | β 111(G13) Val>Leu AND β 119(GH2) Gly>Asp |
Context nucleotide sequence:
GTCTGTGTGCTGGCCCATCACTTTG [A/C/G/T] CAAAGAATTCACCCCACCAGTGCAG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLLCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
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: | 71908 |
| 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: | Altered α1β1 interface |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
HPLC
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To access HPLC images and reports for different variants, use the IthaChrom tool.
| ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| 153 | Hb Fannin-Lubbock II | β | D-10 | Dual Kit Program | 34 | 1.54 | This variant carries in addition to the mutation of Hb Fannin Lubbock [Gly>Asp] a second neutral mutation [beta Val>Leu] which modifies the retention time in RP-HPLC. Clinically normal. | [PDF] | |
| 154 | Hb Fannin-Lubbock II | β | VARIANT | β-thal Short Program | 36.5 | 1.82 | This variant carries in addition to the mutation of Hb Fannin Lubbock [Gly>Asp] a second neutral mutation [beta Val>Leu] which modifies the retention time in RP-HPLC. Clinically normal. | [PDF] | |
| 155 | Hb Fannin-Lubbock II | β | VARIANT II | β-thal Short Program | 36.1 | 1.91 | This variant carries in addition to the mutation of Hb Fannin Lubbock [Gly>Asp] a second neutral mutation [beta Val>Leu] which modifies the retention time in RP-HPLC. Clinically normal. | [PDF] | |
| 156 | Hb Fannin-Lubbock II | β | VARIANT II | Dual Kit Program | 36.5 | 1.66 | This variant carries in addition to the mutation of Hb Fannin Lubbock [Gly>Asp] a second neutral mutation [beta Val>Leu] which modifies the retention time in RP-HPLC. Clinically normal. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- Qin WB, Pobedimskaya DD, Molchanova TP, Wilson JB, Gu LH, de Pablos JM, Huisman TH, Hb Fannin-Lubbock in five Spanish families is characterized by two mutations: beta 111 GTC-->CTC (Val-->Leu) and beta 119 GGC-->GAC (Gly-->Asp)., Hemoglobin, 18(4), 297-306, 1994
- González FA, Ropero P, Arrizabalaga B, García P, Cela E, Villegas A, [Fannin-Lubbock II hemoglobin [beta111(G13)Val -> Leu y beta119(GH2)Gly -> Asp]: description of 4 new cases]., Med Clin (Barc), 129(10), 379-81, 2007
Created on 2010-06-16 16:13:17,
Last reviewed on 2020-12-17 23:03:27 (Show full history)
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