IthaID: 585
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 63 GCC>GAC [Ala>Asp] | HGVS Name: | NM_000558.5(HBA1):c.191C>A |
| Hb Name: | Hb Pontoise | Protein Info: | α1 63(E12) Ala>Asp |
Context nucleotide sequence:
GTTAAGGGCCACGGCAAGAAGGTGG [C/A] CGACGCGCTGACCAACGCCGTGGCG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVDDALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as: Hb J-Pontoise
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: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37887 |
| 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: | Spanish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Thillet J, Blouquit Y, Perrone F, Rosa J, Hemoglobin Pontoise alpha63 Ala replaced by Asp(E12). A new fast moving variant., Biochim. Biophys. Acta , 491(1), 16-22, 1977
- Gonzalez Redondo JM, Wilson JB, Kutlar A, Huisman TH, Sicilia A, Romero C, Fernandes Fuertes I, Hb J-Pontoise or alpha 2(63)(E12)Ala----Asp beta 2 in four members of a Spanish family., Hemoglobin , 11(1), 47-50, 1987
- 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 2010-06-16 16:13:15,
Last reviewed on 2024-04-12 10:11:50 (Show full history)
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