IthaID: 570
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 58 CAC>TAC [His>Tyr] | HGVS Name: | HBA2:c.175C>T |
| Hb Name: | Hb M-Boston | Protein Info: | α2 58(E7) His>Tyr |
Context nucleotide sequence:
CCACGGCTCTGCCCAGGTTAAGGGC [C/T] ACGGCAAGAAGGTGGCCGACGCGCT (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGYGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as: Hb M-Gothenburg, Hb M-Kiskunhalas, Hb M-Norin, Hb M-Osaka
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | Methemoglobinaemia |
| Stability: | N/A |
| Oxygen Affinity: | Decreased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34067 |
| 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: | German, Swedish, Dutch, Hungarian, Japanese |
| Molecular mechanism: | Altered heme pocket |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Pulsinelli PD, Perutz MF, Nagel RL, Structure of hemoglobin M Boston, a variant with a five-coordinated ferric heme., Proc. Natl. Acad. Sci. U.S.A. , 70(12), 3870-4, 1973
- Nishikura K, Sugita Y, Nagai M, Yoneyama Y, Jagenburg R, High cooperativity of haemoglobin M Boston in the completely reduced state., Nature , 254(5502), 727-8, 1975
- Takahashi S, Lin AK, Ho C, Proton nuclear magnetic resonance studies of hemoglobins M Boston (alpha 58E7 His leads to Tyr) and M Milwaukee (beta 67E11 Val leads to Glu): spectral assignments of hyperfine-shifted proton resonances and of proximal histidine (E7) NH resonances to the alpha and beta chains of normal human adult hemoglobin., Biochemistry , 19(23), 5196-202, 1980
- Shin C, Hong M, Kim M, Lee JH, Exon sequencing of the alpha-2-globin gene for the differential diagnosis of central cyanosis in newborns: a case report., BMC Pediatr, 19(1), 221, 2019
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-05-12 15:36:33 (Show full history)
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