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.

External Links

HbVar	ClinVar
OMIM

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

IthaPhen

Heterozygous records (preview in IthaPhen)

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

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

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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