IthaID: 3038


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 6 GAC>TAC [Asp>Tyr] HGVS Name: HBA2:c.19G>T
Hb Name: Hb Woodville Protein Info: N/A

Context nucleotide sequence:
ACCCACCATGGTGCTGTCTCCTGCC [A/C/G/T] ACAAGACCAACGTCAAGGCCGCCTG (Strand: +)

Protein sequence:
MVLSPAYKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33794
Size: 1 bp
Located at: α2
Specific Location: Exon 1

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: Vietnamese, British
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Como PF, Barber S, Sage RE, Trent RJ, Kronenberg H, Hemoglobin Woodville: alpha (2)6(A4) aspartic acid----tyrosine., Hemoglobin , 10(2), 135-41, 1986
  2. 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 2016-08-31 15:02:17, Last reviewed on 2016-08-31 15:13:28 (Show full history)

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