IthaID: 1405
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | N/A | HGVS Name: | NG_000007.3:g.63461_70874dup |
| Hb Name: | Hb P-Nilotic | Protein Info: | βδ hybrid (β through 31; δ from 50) |
Also known as: Hb Anti-Lepore P-Nilotic
Comments: An unequal crossover had occurred within a 54 bp window between codon 32 of HBB and codon 49 of HBD. HGVS name reported according to the 3' rule.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | δ-chain variant |
| Allele Phenotype: | δβ fusion |
| Stability: | N/A |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | N/A |
| Size: | 7.414 kb |
| Fusion involves: | δ, β |
Other details
| Type of Mutation: | Fusion |
|---|---|
| Ethnic Origin: | Nubian, Mexican-American, Turkish, Sudanese, Egyptian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Moo-Penn WF, Bechtel KC, Therrell BL, Hemoglobin P Nilotic in a Mexican-American family., Hemoglobin , 2(1), 65-9, 1978
- Raybourne SR, Stallings MB, Gravely ME, Huisman TH, Oxygen equilibrium analyses of isolated hemoglobins A2, Lepore-Washington and P-nilotic., Biochim. Biophys. Acta , 535(1), 78-84, 1978
- Abu-Sin A, Felice AE, Gravely ME, Wilson JB, Reese AL, Miller HL, Huisman TH, Hb P-Nilotic in association with beta0-thalassemia: cis-mutation of a hemoglobin betaA chain regulatory determinant?, J. Lab. Clin. Med. , 93(6), 973-82, 1979
- Liu JZ, Harano T, Lanclos KD, Huisman TH, The beta-delta crossover leading to the beta delta hybrid gene of hemoglobin P-Nilotic is located within 54 base-pairs of the 5' end of exon 2 or between codons 31 and 50., Biochimica et biophysica acta, 909(3), 208-12, 1987
- Altay C, Kutlar A, Wilson JB, Webber BB, Huisman TH, Hb P-Nilotic or alpha 2(beta delta)2 in a Turkish family., Hemoglobin , 11(4), 395-9, 1987
- Cui J, Azimi M, Adekile AD, Al Awadhi H, Hoppe CC, Detection of anti-Lepore Hb P-Nilotic by multiplex ligation-dependent probe amplification., Hemoglobin, 36(3), 276-82, 2012
Created on 2010-06-16 16:13:17,
Last reviewed on 2021-11-23 13:56:44 (Show full history)
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