IthaID: 585


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 63 GCC>GAC [Ala>Asp] HGVS Name: HBA1:c.191C>A
Hb Name: Hb Pontoise Protein Info: α1 63(E12) Ala>Asp

Context nucleotide sequence:
GTTAAGGGCCACGGCAAGAAGGTGG [C/A] CGACGCGCTGACCAACGCCGTGGCG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVDDALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as: Hb J-Pontoise

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37887
Size: 1 bp
Located at: α1
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Thillet J, Blouquit Y, Perrone F, Rosa J, Hemoglobin Pontoise alpha63 Ala replaced by Asp(E12). A new fast moving variant., Biochim. Biophys. Acta , 491(1), 16-22, 1977
  2. Gonzalez Redondo JM, Wilson JB, Kutlar A, Huisman TH, Sicilia A, Romero C, Fernandes Fuertes I, Hb J-Pontoise or alpha 2(63)(E12)Ala----Asp beta 2 in four members of a Spanish family., Hemoglobin , 11(1), 47-50, 1987
  3. Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016
Created on 2010-06-16 16:13:15, Last reviewed on 2021-04-07 11:19:57 (Show full history)

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