IthaID: 476


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 20 CAC>GAC [His>Asp] HGVS Name: HBA2:c.61C>G
Hb Name: Hb Nikaia Protein Info: α2 20(B1) His>Asp

Context nucleotide sequence:
GGCCGCCTGGGGTAAGGTCGGCGCG [C/G/T] ACGCTGGCGAGTATGGTGCGGAGGC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGADAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

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: 33836
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: French Caucasian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Préhu C, Godart C, Riou J, Soummer AM, Promé D, Galactéros F, Wajcman H, Hb Nikaia [alpha20(B1)His-Asp]: a new variant of the alpha2 gene., Hemoglobin , 24(4), 305-9, 2000
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-12 17:44:44 (Show full history)

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