IthaID: 2317


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 20 CAC>CAA [His>Gln] HGVS Name: HBA1:c.63C>A
Hb Name: Hb Brugg Protein Info: α1 20(B1) His>Gln

Context nucleotide sequence:
CCGCCTGGGGTAAGGTCGGCGCGCA [A/C] GCTGGCGAGTATGGTGCGGAGGCCC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAQAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as: Hb Le Lamentin

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: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37642
Size: 1 bp
Located at: α1
Specific Location: Exon 1

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Moradkhani K, Préhu C, Old J, Henderson S, Balamitsa V, Luo HY, Poon MC, Chui DH, Wajcman H, Patrinos GP, Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants., Ann. Hematol. , 88(6), 535-43, 2009
  2. Rizzi M, Zurbriggen K, Schmid M, Goede JS, Nardi MA, Schmugge M, Speer O, A new α1-globin mutation, Hb Brugg [α20(B1)His→Gln]., Hemoglobin , 35(4), 417-22, 2011
Created on 2014-01-10 14:14:42, Last reviewed on 2020-01-31 09:59:12 (Show full history)

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