IthaID: 892
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 26 GAG>AAG; CD 121 GAA>CAA | HGVS Name: | HBB:c.[79G>A;364G>C] |
| Hb Name: | Hb T-Cambodia | Protein Info: | β 26(B8) Glu>Lys AND β 121(GH4) Glu>Gln |
Context nucleotide sequence:
TGTGCTGGCCCATCACTTTGGCAAA [A/C/G/T] AATTCACCCCACCAGTGCAGGCTGC (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGKALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
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: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70673 |
| 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: | Cambodian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Hutt PJ, Fairbanks VF, Thibodeau SN, Green MM, Hoyer JD, Block SH, Day C, Jones RT, Barwick RC, Hb T-Cambodia, a beta chain variant with the mutations of Hb E and Hb D-Punjab, confirmed by DNA analysis., Hemoglobin, 21(3), 205-18, 1997
Created on 2010-06-16 16:13:16,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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