IthaID: 693


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 102 AGC>AGA [Ser>Arg] HGVS Name: HBA1:c.309C>A
Hb Name: Hb Manitoba II Protein Info: α1 102(G9) Ser>Arg

Context nucleotide sequence:
CCCTCTTCTCTGCACAGCTCCTAAG [A/C] CACTGCCTGCTGGTGACCCTGGCCG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLRHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

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: 38154
Size: 1 bp
Located at: α1
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: English, German, Irish, Italian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Crookston JH, Farquharson HA, Kinderlerer JL, Lehmann H HEMOGLOBIN MA, alpha 102(G9) serine replaced by arginine., Can. J. Biochem. , 48(8), 911-4, 1970
  2. Wrightstone RN, Smith LL, Wilson JB, Vella F, Huisman TH, Some physicochemical properties of hemoglobin-manitoba (alpha2 102Ser replaced by Arg (G9) beta2)., Biochim. Biophys. Acta , 412(2), 283-7, 1975
  3. Sciarratta GV, Ivaldi G, Molaro GL, Sansone G, Salkie ML, Wilson JB, Reese AL, Huisman TH, The characterization of hemoglobin Manitoba or alpha (2)102(G9)Ser----Arg beta 2 and hemoglobin Contaldo or alpha (2)103(G10)His----Arg beta 2 by high performance liquid chromatography., Hemoglobin , 8(2), 169-81, 1984
  4. Molchanova TP, Pobedimskaya DD, Huisman TH, The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes., Br. J. Haematol. , 88(2), 300-6, 1994
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-14 16:13:50 (Show full history)

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