IthaID: 447



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 6 GAC>GGC [Asp>Gly] HGVS Name: HBA1:c.20A>G | HBA2:c.20A>G
Hb Name: Hb Swan River Protein Info: α2 or α1 6(A4) Asp>Gly

Context nucleotide sequence:
CCCACCATGGTGCTGTCTCCTGCCG [A/C/G/T] CAAGACCAACGTCAAGGCCGCCTGG (Strand: +)

Protein sequence:
MVLSPAGKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33795 or 37599
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 1

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: Caucasian, Japanese, Yugoslavian
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Moo-Penn WF, Jue DL, Johnson MH, Therrell BL, Hemoglobin Swan River [alpha 6(A4)Asp----Gly]., Hemoglobin , 11(1), 61-2, 1987 PubMed
  2. Como PF, Wilkinson T, Kronenberg H, Raven JL, Prior J, Trent RJ, Hb Swan River [alpha 6(A4) Asp----Gly] initial identification in an Australian family., Hemoglobin , 13(4), 393-6, 1989 PubMed
  3. Harano T, Harano K, Imai K, Terunuma S, HB Swan River [alpha 6(A4)ASP-->Gly] observed in a Japanese man., Hemoglobin , 20(1), 75-8, 1996 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-12 15:52:34 (Show full history)

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