IthaID: 774


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 139 AAA>AAC [Lys>Asn] HGVS Name: HBA2:c.420A>C
Hb Name: Hb Fukui Protein Info: α2 139(HC1) Lys>Asn

Context nucleotide sequence:
CTGTGAGCACCGTGCTGACCTCCAA [A/C] TACCGTTAAGCTGGAGCCTCGGTAG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSNYR

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: 34454
Size: 1 bp
Located at: α2
Specific Location: Exon 3

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Harano T, Suetsugu Y, Harano K, Than AM, Hong YF, Kuroda A, A new hemoglobin variant, Hb Fukui [alpha139(HC1)Lys --> Asn (AAA --> AAC) (alpha2)]., Hemoglobin , 27(2), 117-21, 2003
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-15 12:46:07 (Show full history)

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