IthaID: 915
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 32 CTG>CGG [Leu>Arg] | HGVS Name: | HBB:c.98T>G |
| Hb Name: | Hb Castilla | Protein Info: | β 32(B14) Leu>Arg |
Context nucleotide sequence:
GTCTATTTTCCCACCCTTAGGCTGC [A/C/G/T] GGTGGTCTACCCTTGGACCCAGAGG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLRVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
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: | 70822 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Asian Indian | Spanish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Garel MC, Blouquit Y, Rosa J, Arous N, Romero Garcia C, Hemoglobin Castilla beta 32 (B14) Leu leads to Arg; a new unstable variant producing severe hemolytic disease., FEBS Lett. , 58(1), 144-8, 1975
- Thillet J, Garel MC, Bierme R, Rosa J, Oxidation properties of two hemoglobin variants with their mutation localized in the heme pocket: Hb Castilla beta 32 (B14) Leu replaced by Arg and Hb Toulouse beta 66 (E10) Lys replaced by Glu, and abnormal functional properties of Hb Castilla., Biochim. Biophys. Acta , 624(1), 293-303, 1980
- Walker L, McFarlane A, Patterson M, Eng B, Waye JS, Hb Castilla [beta32(B14)Leu --> Arg] caused by a de novo mutation., Hemoglobin, 27(4), 253-6, 2003
Created on 2010-06-16 16:13:16,
Last reviewed on 2016-08-24 13:28:28 (Show full history)
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