IthaID: 493


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 26 GCG>GTG [Ala>Val] HGVS Name: HBA2:c.80C>T
Hb Name: Hb Campinas Protein Info: α2 26(B7) Ala>Val

Context nucleotide sequence:
GGCGCGCACGCTGGCGAGTATGGTG [A/C/T] GGAGGCCCTGGAGAGGTGAGGCTCC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGVEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

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: 33855
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Brazilian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Wenning MR, Silva NM, Jorge SB, Kimura EM, Costa FF, Torsoni , Ogo SH, Sonati MF, Hb Campinas [alpha26(B7)Ala -->Val]: a novel, electrophoretically silent, variant., Hemoglobin , 24(2), 143-8, 2000
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-13 10:00:18 (Show full history)

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