IthaID: 1056

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	CD 77 CAC>TAC; CD 80 AAC>AGC	HGVS Name:	HBB:c.[232C>T;242A>G]
Hb Name:	Hb Villeparisis	Protein Info:	β 77(EF1) His>Tyr AND β 80(EF4) Asn>Ser

Context nucleotide sequence:
CGGTGCCTTTAGTGATGGCCTGGCT [A/C/G/T] ACCTGGACAACCTCAAGGGCACCTT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAYLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar	dbSNP
dbSNP

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:	70956
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:	French
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Wajcman H, Kister J, Promé D, Blouquit Y, Préhu C, Poyart C, Galactéros F, Interaction of 2 amino acid substitutions within the same beta chain of human hemoglobin: the examples of Hb Corbeil and Hb Villeparisis., Comptes rendus de l'Académie des sciences. Série III, Sciences de la vie, 318(7), 785-94, 1995 PubMed
Promé D, Deon C, Promé JC, Wajcman H, Galacteros F, Blouquit Y, Use of combined mass spectrometry methods for the characterization of a new variant of human hemoglobin: The double mutant hemoglobin villeparisis β77(EF1) His → Tyr, β 80 (EF4) Asn → Ser., J. Am. Soc. Mass Spectrom. , 7(2), 163-7, 1996 PubMed

Created on 2010-06-16 16:13:16, Last reviewed on 2014-01-08 16:00:44 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:16	The IthaGenes Curation Team	Created
2	2014-01-08 16:00:44	The IthaGenes Curation Team	Reviewed.

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