IthaID: 1405
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
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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 |
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Hemoglobinopathy Subgroup: | δ-chain variant |
Allele Phenotype: | δβ fusion |
Stability: | N/A |
Oxygen Affinity: | Increased Oxygen Affinity |
Associated Phenotypes: | N/A |
Location
Chromosome: | 11 |
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Locus: | NG_000007.3 |
Locus Location: | N/A |
Size: | 7.414 kb |
Fusion involves: | δ, β |
Other details
Type of Mutation: | Fusion |
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Ethnic Origin: | Nubian, Mexican-American, Turkish, Sudanese, Egyptian |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- Moo-Penn WF, Bechtel KC, Therrell BL, Hemoglobin P Nilotic in a Mexican-American family., Hemoglobin , 2(1), 65-9, 1978 PubMed
- 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 PubMed
- 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 PubMed
- 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 PubMed
- 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 PubMed
- 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 PubMed
Created on 2010-06-16 16:13:17,
Last reviewed on 2021-11-23 13:56:44 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2010-06-16 16:13:17 | The IthaGenes Curation Team | Created |
2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
3 | 2014-06-04 15:46:57 | The IthaGenes Curation Team | Reviewed. Additional references and ClinVar link added. |
4 | 2015-12-07 16:15:29 | The IthaGenes Curation Team | Reviewed. |
5 | 2021-11-23 13:03:15 | The IthaGenes Curation Team | Reviewed. Type of variant corected. |
6 | 2021-11-23 13:54:10 | The IthaGenes Curation Team | Reviewed. HGVS name, Reference and Origin added. |
7 | 2021-11-23 13:56:44 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-09-28 12:00:32