IthaID: 839
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
---|---|---|---|
Common Name: | CD 9 TCT>TAT; CD 121 GAA>CAA | HGVS Name: | HBB:c.[29C>A;364G>C] |
Hb Name: | Hb D-Agri | Protein Info: | β 9(A6) Ser>Tyr AND β 121(GH4) Glu>Gln |
Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GTGCATCTGACTCCTGAGGAGAAGT [A/C/G] TGCCGTTACTGCCCTGTGGGGCAAG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKQFTPPVQAAYQKVVAGVANALAHKYH
Phenotype
Hemoglobinopathy Group: | Structural Haemoglobinopathy |
---|---|
Hemoglobinopathy Subgroup: | β-chain variant |
Allele Phenotype: | N/A |
Stability: | N/A |
Oxygen Affinity: | N/A |
Associated Phenotypes: | N/A |
Location
Chromosome: | 11 |
---|---|
Locus: | NG_000007.3 |
Locus Location: | 70623 |
Size: | 1 bp |
Located at: | β |
Specific Location: | Exon 1 |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
---|---|
Effect on Gene/Protein Function: | N/A |
Ethnic Origin: | Indian |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | No |
In silico pathogenicity prediction
Sequence Viewer
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Publications / Origin
- Colah R, Wadia M, Surve R, Nadkarni A, Phanasgaonkar S, Gorakshakar A, Mohanty D, Promé D, Wajcman H, Hb D-Agri [beta9(A6)Ser --> Tyr;beta121(GH4)Glu --> Gln]: a new Indian hemoglobin variant with two amino acid substitutions in the same beta chain., Hemoglobin, 25(3), 317-21, 2001 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2021-10-21 11:14:47 (Show full history)
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