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.
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
Publications / Origin
- 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
- 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
- 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
Created on 2010-06-16 16:13:16,
Last reviewed on 2013-12-02 10:53:29 (Show full history)
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