IthaID: 546
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 48 CTG>CGG [Leu>Arg] | HGVS Name: | HBA2:c.146T>G |
| Hb Name: | Hb Montgomery | Protein Info: | α2 48(CE6) Leu>Arg |
Context nucleotide sequence:
AAGACCTACTTCCCGCACTTCGACC [C/G/T] GAGCCACGGCTCTGCCCAGGTTAAG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDRSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
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: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34038 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | African, Chinese |
| Molecular mechanism: | N/A |
| 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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 613 | Hb Montgomery | α2 | VARIANT II | β-thal Short Program | 6.3 | 4.98 | Heterozygous. Association with HbS. | [PDF] | |
| 615 | Hb Montgomery | α2 | VARIANT II | Dual Kit Program | 6.5 | 4.425 | Heterozygous. Association with HbS. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- Brimhall B, Jones RT, Schneider RG, Hosty TS, Tomlin G, Atkins R, Two new hemoglobins. Hemoglobin Alabama (beta39(C5)Gln leads to Lys) and hemoglobin Montgomery (alpha 48(CD 6) Leu leads to Arg)., Biochimica et biophysica acta, 379(1), 28-32, 1975
- Zeng YT, Huang SZ, Dong ZY, Hemoglobin Montgomery (alpha 2 48 Leu replaced by Arg beta 2) in a Chinese family., Hemoglobin , 6(2), 213-5, 1982
- Molchanova TP, Pobedimskaya DD, Huisman TH, The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes., Br. J. Haematol. , 88(2), 300-6, 1994
Created on 2010-06-16 16:13:15,
Last reviewed on 2014-03-27 13:17:58 (Show full history)
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