IthaID: 469


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 16 AAG>ACG [Lys>Thr] HGVS Name: HBA2:c.50A>C
Hb Name: Hb Boa Esperanca Protein Info: α2 16(A14) Lys>Thr

Context nucleotide sequence:
ACCAACGTCAAGGCCGCCTGGGGTA [A/C/T] GGTCGGCGCGCACGCTGGCGAGTAT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGTVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

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: 33825
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. Jorge SE, Kimura EM, Oliveira DM, Ogo S, Albuquerque DM, Costa FF, Sonati Mde F, Three new alpha-globin variants: Hb Itapira [alpha30(B11)Glu-->Val (alpha1)], Hb Bom Jesus Da Lapa [alpha30(B11)Glu-->Ala (alpha1)] and Hb Boa Esperança [alpha16(A14)Lys-->Thr (alpha2)]., Hemoglobin , 31(2), 151-7, 2007
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-12 17:17:21 (Show full history)

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