IthaID: 3037



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 18 GGC>CGC [Gly>Arg] HGVS Name: HBA2:c.55G>C
Hb Name: Hb Handsworth Protein Info: N/A

Context nucleotide sequence:
CGTCAAGGCCGCCTGGGGTAAGGTC [C/G] GCGCGCACGCTGGCGAGTATGGTGC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVRAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33830
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: N/A
Associated Phenotypes: N/A

Other details

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

Sequence Viewer

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Publications / Origin

  1. Griffiths KD, Lang A, Lehmann H, Mann JR, Plowman D, Raine DN, Haemoglobin Handsworth alpha 18 (A16) glycine leads to arginne., FEBS Lett. , 75(1), 93-5, 1977 PubMed
  2. Al-Awamy BH, Niazi GA, Naeem MA, Wilson JB, Huisman TH, Hemoglobin Handsworth or alpha2 18(A16)Gly----Arg beta2 in a Saudi newborn., Hemoglobin , 9(2), 183-6, 1985 PubMed
  3. 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 PubMed
Created on 2016-08-31 13:30:41, Last reviewed on 2016-08-31 15:16:04 (Show full history)

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