IthaID: 1148
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 101 GAG>GCG | HGVS Name: | HBB:c.305A>C |
| Hb Name: | Hb Youngstown | Hb St Mary's | Protein Info: | β 101(G3) Glu>Ala |
Context nucleotide sequence:
TGTGACAAGCTGCACGTGGATCCTG [A/C] GAACTTCAGGGTGAGTCTATGGGAC (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPANFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71029 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | English |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Wild BJ, Green BN, Cooper EK, Lalloz MR, Erten S, Stephens AD, Layton DM, Rapid identification of hemoglobin variants by electrospray ionization mass spectrometry., Blood cells, molecules & diseases, 27(3), 691-704, 2001
- Edward HL, Pisani LA, Rodriguez-Romero WE, Chaves-Villalobos J, Garcia-Quesada J, Harris NS, Luo HY, Steinberg MH, Forget BG, Chui DH, Hb Youngstown [β101(G3)Glu → Ala; HBB: c.305A > C]: An unstable hemoglobin variant causing severe hemolytic anemia., Hemoglobin , 38(6), 381-4, 2014
- Wild BJ, Phelan LO, Bain BJ, Hemoglobin St Mary's., Am. J. Hematol., 91(7), 735, 2016
Created on 2010-06-16 16:13:16,
Last reviewed on 2019-09-27 13:15:37 (Show full history)
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.