IthaID: 1108

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	CD 92 CAC>CCC; CD 104 AGG>AGC	HGVS Name:	HBB:c.[278A>C;315G>C]
Hb Name:	Hb Duino	Protein Info:	β 92(F8) His>Pro AND β 104(G6) Arg>Ser

Also known as:

Comments: Hb Duino [β92(F8)His>Pro;β104(G6)Arg>Ser] is a combination of Hb Newcastle [IthaID: 1106] and Hb Camperdown [IthaID: 1162] in the same β-globin chain. It was initially identified in an Italian patient suffering from hemolytic anemia and characterized by protein analysis. Family study demonstrated that the Hb Newcastle abnormality arose from a de novo mutation occurring on a β gene already carrying the abnormality of Hb Camperdown.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
dbSNP	OMIM
LOVD

Phenotype

Hemoglobinopathy Group:	Structural Haemoglobinopathy
Hemoglobinopathy Subgroup:	β-chain variant
Allele Phenotype:	N/A
Stability:	N/A
Oxygen Affinity:	N/A
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	71002 or 71039
Size:	1 bp or 1 bp
Located at:	β
Specific Location:	Exon 2

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	N/A
Ethnic Origin:	Italian
Molecular mechanism:	Altered heme pocket
Inheritance:	Recessive
DNA Sequence Determined:	No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Wajcman H, Blouquit Y, Vasseur C, Le Querrec A, Laniece M, Melevendi C, Rasore A, Galacteros F, Two new human hemoglobin variants caused by unusual mutational events: Hb Zaïre contains a five residue repetition within the alpha-chain and Hb Duino has two residues substituted in the beta-chain., Human genetics, 89(6), 676-80, 1992 PubMed

Created on 2010-06-16 16:13:16, Last reviewed on 2023-04-28 13:45:46 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:16	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2023-04-28 13:45:46	The IthaGenes Curation Team	Reviewed. Comment added, HGVS name corrected and other fields edited

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