IthaID: 643
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 86 CTG>CGG [Leu>Arg] | HGVS Name: | HBA1:c.260T>G | HBA2:c.260T>G |
| Hb Name: | Hb Moabit | Protein Info: | α2 or α1 86(F7) Leu>Arg |
Context nucleotide sequence:
AACGCGCTGTCCGCCCTGAGCGACC [G/T] GCACGCGCACAAGCTTCGGGTGGAC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDRHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Autosomal dominant for unstable hemoglobin disease (MONDO:0020459).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Unstable |
| Oxygen Affinity: | Decreased Oxygen Affinity |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34152 or 37956 |
| Size: | 1 bp or 1 bp |
| Located at: | α1 or α2 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Turkish, Caucasian |
| Molecular mechanism: | N/A |
| Inheritance: | Dominant |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Knuth A, Pribilla W, Marti HR, Winterhalter KH, Hemoglobin Moabit: alpha 86 (F7) Leu leads to Arg: a new unstable abnormal hemoglobin., Acta Haematol. , 61(3), 121-4, 1979
- Gulbis B, Tshilolo L, Wajcman H, Riou J, Galactéros F, Promé D, Kister J, Papassotiriou I, Van Laethem Y, Vertongen F, Structural and functional studies of hemoglobin Moabit (alpha 86(F7) Leu-->Arg., Hematol Cell Ther, 39(3), 137-8, 1997
Created on 2010-06-16 16:13:16,
Last reviewed on 2022-10-24 10:20:33 (Show full history)
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