IthaID: 3037
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 18 GGC>CGC [Gly>Arg] | HGVS Name: | HBA2:c.55G>C |
| Hb Name: | Hb Handsworth | Protein Info: | N/A |
Context nucleotide sequence:
CGTCAAGGCCGCCTGGGGTAAGGTC [C/G] GCGCGCACGCTGGCGAGTATGGTGC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVRAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | 33830 |
| 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: | Saudi, Asian Indian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Griffiths KD, Lang A, Lehmann H, Mann JR, Plowman D, Raine DN, Haemoglobin Handsworth alpha 18 (A16) glycine leads to arginne., FEBS Lett. , 75(1), 93-5, 1977
- Al-Awamy BH, Niazi GA, Naeem MA, Wilson JB, Huisman TH, Hemoglobin Handsworth or alpha2 18(A16)Gly----Arg beta2 in a Saudi newborn., Hemoglobin , 9(2), 183-6, 1985
- Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016
Created on 2016-08-31 13:30:41,
Last reviewed on 2016-08-31 15:16:04 (Show full history)
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