IthaID: 637



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 84 AGC>AGG or CGC or AGA [Ser>Arg] HGVS Name: HBA1:c.253A>C | HBA1:c.255C>A | HBA1:c.255C>G | HBA2:c.253A>C | HBA2:c.255C>A | HBA2:c.255C>G
Hb Name: Hb Etobicoke Protein Info: α2 or α1 84(F5) Ser>Arg

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

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALRDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34147 or 37949
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: Unstable
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: American, Indian, English, French, Irish, Dutch
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

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
Created on 2010-06-16 16:13:16, Last reviewed on 2018-05-16 19:41:24 (Show full history)

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