IthaID: 693
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 102 AGC>AGA [Ser>Arg] | HGVS Name: | HBA1:c.309C>A |
| Hb Name: | Hb Manitoba II | Protein Info: | α1 102(G9) Ser>Arg |
Context nucleotide sequence:
CCCTCTTCTCTGCACAGCTCCTAAG [A/C] CACTGCCTGCTGGTGACCCTGGCCG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLRHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 38154 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | English, German, Irish, Italian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Crookston JH, Farquharson HA, Kinderlerer JL, Lehmann H HEMOGLOBIN MA, alpha 102(G9) serine replaced by arginine., Can. J. Biochem. , 48(8), 911-4, 1970
- Wrightstone RN, Smith LL, Wilson JB, Vella F, Huisman TH, Some physicochemical properties of hemoglobin-manitoba (alpha2 102Ser replaced by Arg (G9) beta2)., Biochim. Biophys. Acta , 412(2), 283-7, 1975
- Sciarratta GV, Ivaldi G, Molaro GL, Sansone G, Salkie ML, Wilson JB, Reese AL, Huisman TH, The characterization of hemoglobin Manitoba or alpha (2)102(G9)Ser----Arg beta 2 and hemoglobin Contaldo or alpha (2)103(G10)His----Arg beta 2 by high performance liquid chromatography., Hemoglobin , 8(2), 169-81, 1984
- 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 16:13:16,
Last reviewed on 2014-04-14 16:13:50 (Show full history)
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