IthaID: 663



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
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

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

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

Location

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: N/A
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

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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