IthaID: 663



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 90 AAG>ACG HGVS Name: HBA1:c.272A>C
Hb Name: Hb J-Rajappen Protein Info: α1 90(FG2) Lys>Thr

Context nucleotide sequence:
GCCCTGAGCGACCTGCACGCGCACA [A/C/G/T] GCTTCGGGTGGACCCGGTCAACTTC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHTLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37968
Size: 1 bp
Located at: α1
Specific Location: N/A

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: N/A
Ethnic Origin: N/A
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Hyde RD, Kinderlerer JL, Lehmann H, Hall MD, Haemoglobin J Rajappen; 90 (FG2) Lys leads to Thr., Biochim. Biophys. Acta , 243(3), 515-9, 1971 PubMed
  2. 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 PubMed
  3. Bhat VS, Mandal AK, Mathew B, Identification of a Rare Hemoglobin Variant HbJ-Rajappen [alpha90 (FG2) Lys → Thr] Using Mass Spectrometry., Indian J Clin Biochem , 27(4), 414-6, 2012 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2013-12-02 10:53:29 (Show full history)

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