IthaID: 901

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
Common Name:	CD 28 CTG>CCG [Leu>Pro]	HGVS Name:	HBB:c.86T>C
Hb Name:	Hb Genova	Protein Info:	β 28(B10) Leu>Pro

Context nucleotide sequence:
GTGGATGAAGTTGGTGGTGAGGCCC [T>C] GGGCAGGTTGGTATCAAGGTTACAA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEAPGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

Comments: β28 Leu>Pro change, although causing a profound distortion of the B helix, is stable enough to allow the formation of viable tetramers (Hb Genova), which then fall apart in the peripheral circulation causing a haemolytic anaemia [PMID: 1581206]

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
OMIM	SwissVar
LOVD

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	70680
Size:	1 bp
Located at:	β
Specific Location:	Exon 1

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	N/A
Ethnic Origin:	Cuban \| East Indian \| European \| Japanese \| Kenyan \| Libyan
Molecular mechanism:	Altered secondary structure
Inheritance:	Recessive
DNA Sequence Determined:	No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Sansone G, Carrell RW, Lehmann H, Haemoglobin Genova: beta-28 (B10) leucine replaced by proline., Nature, 214(5091), 877-9, 1967 PubMed
Thein SL, Dominant beta thalassaemia: molecular basis and pathophysiology., Br J Haematol, 80(3), 273-7, 1992 PubMed

Created on 2010-06-16 16:13:16, Last reviewed on 2022-11-30 12:38:37 (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	2022-11-30 12:38:37	The IthaGenes Curation Team	Reviewed. Comment and Reference added. Allele info changed.

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