IthaID: 3587
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 92 CGG>GGG [Arg>Gly] | HGVS Name: | HBA2:c.277C>G |
| Hb Name: | Hb Leeuwarden | Protein Info: | p.Arg93Gly |
Context nucleotide sequence:
GCCCTGAGCGACCTGCACGCGCACAAGCTT [C>G] GGGTGGACCCGGTCAACTTCAAGGTGAGC (Strand: -)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLGVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Found in heterozygote state in a 13-year old Dutch boy with normal haematology (Hb 13.4 g/dl, RBC 4.78 (10^12/l), MCV 82 fl, and MCH 28.0 pg). The HbX peak (19.4%) was detected on HPLC analysis.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | Silent Hb |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34169 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Dutch |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | L. Harteveld, Cornelis | 2020-05-08 | First report. |
Created on 2020-05-09 12:20:04,
Last reviewed on 2020-05-09 13:07:07 (Show full history)
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