IthaID: 1088

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Benign / Likely Benign
Common Name:	CD 87 ACA>CCA	HGVS Name:	HBB:c.262A>C
Hb Name:	Hb Valletta	Protein Info:	β 87(F3) Thr>Pro

Context nucleotide sequence:
GGACAACCTCAAGGGCACCTTTGCC [A/C] CACTGAGTGAGCTGCACTGTGACAA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFAPLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

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:	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:	70986
Size:	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 \| Maltese
Molecular mechanism:	Altered interaction with HbS polymer
Inheritance:	Recessive
DNA Sequence Determined:	Yes

HPLC

Disclaimer: The HPLC images are provided as an information resource only. Bio-Rad Laboratories, Inc and the ITHANET Portal disclaim responsibility and have no liability if this information is used for diagnostic or treatment purposes. D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission. Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc. To access HPLC images and reports for different variants, use the IthaChrom tool.

ID	Hb Variant	Gene	Instrument	Method	Area (%)	Ret Time (min)	Comments
482	Hb Valletta	β	D-10	Dual Kit Program	66.3	1.74	Compound heterozygote with Hb Lepore. Elutes as HbA0.	[PDF]
321	Hb Valletta	β	D-10	Dual Kit Program	84.1	1.69	Heterozygous. Elutes with HbA. Clinically normal. This mutation is usually linked in cis to HbF Malta.	[PDF]
483	Hb Valletta	β	VARIANT	β-thal Short Program	66.4	2.58	Compound heterozygote with Hb Lepore. Elutes as HbA0.	[PDF]
322	Hb Valletta	β	VARIANT	β-thal Short Program	87	2.46	Heterozygous. Elutes with HbA. Clinically normal. This mutation is usually linked in cis to HbF Malta.	[PDF]
485	Hb Valletta	β	VARIANT II	Dual Kit Program	61.2	1.886	Compound heterozygote with Hb Lepore. Elutes as HbA0.	[PDF]
484	Hb Valletta	β	VARIANT II	β-thal Short Program	66.1	2.65	Compound heterozygote with Hb Lepore. Elutes as HbA0.	[PDF]
324	Hb Valletta	β	VARIANT II	Dual Kit Program	81.6	1.75	Heterozygous. Elutes with HbA. Clinically normal. This mutation is usually linked in cis to HbF Malta.	[PDF]
323	Hb Valletta	β	VARIANT II	β-thal Short Program	85.8	2.39	Heterozygous. Elutes with HbA. Clinically normal. This mutation is usually linked in cis to HbF Malta.	[PDF]

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Kutlar F, Felice AE, Grech JL, Bannister WH, Kutlar A, Wilson JB, Webber BB, Hu HY, Huisman TH, The linkage of Hb Valletta [alpha 2 beta 287(f3)Thr----Pro] and Hb F-Malta-I [alpha 2G gamma 2117(G19)His----Arg] in the Maltese population., Human genetics, 86(6), 591-4, 1991 PubMed

Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (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.

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