IthaID: 612


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 75 GAC>AAC [Asp>Asn] HGVS Name: HBA2:c.226G>A
Hb Name: Hb Matsue-Oki Protein Info: α2 75(EF4) Asp>Asn

Context nucleotide sequence:
GACCAACGCCGTGGCGCACGTGGAC [G/A] ACATGCCCAACGCGCTGTCCGCCCT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDNMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

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: 34118
Size: 1 bp
Located at: 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, Japanese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Ohba Y, Miyaji T, Matsuoka M, Takeda I, Fukuba Y, Hemoglobin Matsue-Oki: alpha 75 (EF 4) aspartic acid leads to asparagine., Hemoglobin , 1(4), 383-8, 1977
  2. Moo-Penn WF, Johnson MH, Therrell BL, Hemoglobin Matsue-Oki (alpha 75 Asp replaced by Asn) in a black American., Hemoglobin , 2(1), 71-4, 1978
  3. Yi-Tao Z, Headlee ME, Henson J, Lam H, Wilson JB, Huisman TH, Identification of hemoglobin G-Philadelphia (alpha 68 Asn replaced by Lys) and hemoglobin Matsue-Oki (alpha 75 Asp replaced by Asn) in a black infant., Biochim. Biophys. Acta , 707(2), 206-12, 1982
  4. Khalil MS, Timbs A, Henderson S, Schuh A, Hussein MR, Old J, Haemoglobin (Hb) G-Philadelphia, Hb Stanleyville-II, Hb G-Norfolk, Hb Matsue-Oki and Hb Mizushi can form a panel of α-chain variants that overlap in their phenotype: the novel use of StyI to screen for Hb G-Philadelphia., Int J Lab Hematol, 33(3), 318-25, 2011
Created on 2010-06-16 16:13:16, Last reviewed on 2021-03-31 21:54:38 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.