IthaID: 1056



Names and Sequences

Functionality: Globin gene causative mutation
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

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70956
Size: 1 bp
Located at: β
Specific Location: Exon 2

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: French
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. 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
  2. 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)

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