IthaID: 614


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 75 GAC>TAC [Asp>Tyr] HGVS Name: HBA2:c.226G>T
Hb Name: Hb Winnipeg Protein Info: α2 75(EF4) Asp>Tyr

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

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDYMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

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: Caucasian, Sardinian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Vella F, Wiltshire B, Lehmann H, Galbraith P, Hemoglobin Winnipeg: alpha2 75 Asp leads to Tyr beta2., Clin. Biochem. , 6(2), 66-70, 1973
  2. Nakatsuji T, Abraham BL, Lam H, Wilson JB, Huisman TH, Hb Winnipeg or alpha 2 75(EF4)Asp leads to Tyr beta 2 in a large Caucasian family living in Georgia, USA., Hemoglobin , 7(1), 105-10, 1983
  3. Moradkhani K, Préhu C, Old J, Henderson S, Balamitsa V, Luo HY, Poon MC, Chui DH, Wajcman H, Patrinos GP, Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants., Ann. Hematol. , 88(6), 535-43, 2009
Created on 2010-06-16 16:13:16, Last reviewed on 2014-06-05 11:13:18 (Show full history)

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