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