IthaID: 3760
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 75 GAC>AAC [Asp>Asn] | HGVS Name: | HBA1:c.226G>A |
| Hb Name: | Hb Matsue-Oki | Protein Info: | α1 75(EF4) Asp>Asn |
Context nucleotide sequence:
GACCAACGCCGTGGCGCACGTGGAC [G/A] ACATGCCCAACGCGCTGTCCGCCCT (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDNMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | Unclear |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37922 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | African, Japanese, British |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Ohba Y, Miyaji T, Matsuoka M, Takeda I, Fukuba Y, Hemoglobin Matsue-Oki: alpha 75 (EF 4) aspartic acid leads to asparagine., Hemoglobin , 1(4), 383-8, 1977
- Moo-Penn WF, Johnson MH, Therrell BL, Hemoglobin Matsue-Oki (alpha 75 Asp replaced by Asn) in a black American., Hemoglobin , 2(1), 71-4, 1978
- Yi-Tao Z, Headlee ME, Henson J, Lam H, Wilson JB, Huisman TH, Identification of hemoglobin G-Philadelphia (alpha 68 Asn replaced by Lys) and hemoglobin Matsue-Oki (alpha 75 Asp replaced by Asn) in a black infant., Biochim. Biophys. Acta , 707(2), 206-12, 1982
- 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 2021-03-31 21:52:30,
Last reviewed on (Show full history)
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