IthaID: 1249


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 130 TAT>TGT [Tyr>Cys] HGVS Name: HBB:c.392A>G
Hb Name: Hb Montfermeil Protein Info: β 130(H8) Tyr>Cys

Context nucleotide sequence:
TTCACCCCACCAGTGCAGGCTGCCT [A/C/G] TCAGAAAGTGGTGGCTGGTGTGGCT (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAACQKVVAGVANALAHKYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71966
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Hungarian, Portuguese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Kister J, Baudin-Creuza V, Kiger L, Préhu C, Papassotiriou I, Riou J, Galactéros F, Wajcman H, Hb Montfermeil [beta 130(H8) Tyr-->Cys]: suggests a key role for the interaction between helix A and H in oxygen affinity of the hemoglobin molecule., Blood Cells Mol. Dis. , 34(2), 166-73, 2005
Created on 2010-06-16 16:13:17, Last reviewed on 2014-04-15 18:47:09 (Show full history)

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