IthaID: 3760


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 75 GAC>AAC [Asp>Asn] HGVS Name: HBA1:c.226G>A
Hb Name: Hb Matsue-Oki Protein Info: α1 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:Unclear
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37922
Size: 1 bp
Located at: α1
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, British
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. Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016
Created on 2021-03-31 21:52:30, Last reviewed on (Show full history)

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