IthaID: 637



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 84 AGC>AGA [Ser>Arg] HGVS Name: HBA1:c.255C>A
Hb Name: Hb Etobicoke Protein Info: α1 84(F5) Ser>Arg

Context nucleotide sequence:
TGCCCAACGCGCTGTCCGCCCTGAG [C/A] GACCTGCACGCGCACAAGCTTCGGG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALRDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37949
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: American, Indian, English, French, Irish, Dutch
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Crookston JH, Farquharson HA, Beale D, Lehmann H, Hemoglobin Etobicoke: alpha-84(F5) serine replaced by arginine., Can. J. Biochem. , 47(2), 143-6, 1969 PubMed
  2. Headlee MG, Nakatsuji T, Lam H, Wrightstone RN, Huisman TH, Hb Etobicoke, alpha 85(F5) Ser leads to Arg found in a newborn of French-Indian-English descent., Hemoglobin , 7(3), 285-7, 1983 PubMed
  3. Harteveld KL, Heister AJ, Giordano PC, Losekoot M, Bernini LF, Rapid detection of point mutations and polymorphisms of the alpha-globin genes by DGGE and SSCA., Hum. Mutat. , 7(2), 114-22, 1996 PubMed
  4. Silva MR, Sendin SM, Viana MB, Hb Etobicoke mutation in a hybrid HBA212 allele [HBA212 84 (F5) Ser>Arg; HBA212:c.255C>G]., Ann Hematol, 91(12), 1971-4, 2012 PubMed
  5. 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 2010-06-16 16:13:16, Last reviewed on 2021-04-26 22:22:15 (Show full history)

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