IthaID: 687



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD AAC>CAC [Asn>His] HGVS Name: HBA2:c.292A>C
Hb Name: Hb Fuchu-II Protein Info: α2 97(G4) Asn>His

Context nucleotide sequence:
GCACAAGCTTCGGGTGGACCCGGTC [A/C/G] ACTTCAAGGTGAGCGGCGGGCCGGG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVHFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as: Hb Shinbashi

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34184
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: Increased Oxygen Affinity
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Japanese
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Harano T, Harano K, Uehara S, Matsushita K, Two new alpha chain variants: Hb Fuchu-I [alpha 72(EF1)His-->Tyr] and Hb Fuchu-II [alpha 97(G4)Asn-->His]., Hemoglobin , 19(6), 389-95, 1995 PubMed
  2. Son R, Higuchi T, Mizuno A, Koyamada R, Okada S, Yamashiro Y, A Newly Characterized Hemoglobin Variant with a High Oxygen Affinity, Hb Fuchu-II, Presenting with Acute Myocardial Infarction., Intern. Med. , 55(3), 285-7, 2016 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2016-09-02 13:27:58 (Show full history)

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