IthaID: 565


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 56 AAG>AGG [Lys>Arg] HGVS Name: HBA1:c.170A>G | HBA2:c.170A>G
Hb Name: Hb Port Huron Protein Info: α2 or α1 56(E5) Lys>Arg

Context nucleotide sequence:
CTGAGCCACGGCTCTGCCCAGGTTA [A/C/G] GGGCCACGGCAAGAAGGTGGCCGAC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVRGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

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: 34062 or 37866
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Zwerdling T, Williams S, Nasr SA, Rucknagel DL, Hb Port Huron [alpha 56 (E5)Lys----ARG]: a new alpha chain variant., Hemoglobin , 15(5), 381-91, 1991
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-28 14:41:00 (Show full history)

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