IthaID: 2412
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 100 CCT>TCT [Pro>Ser] | HGVS Name: | HBB:c.301C>T |
| Hb Name: | Hb Niort | Protein Info: | β 100(G2) Pro>Ser |
Context nucleotide sequence:
GCACTGTGACAAGCTGCACGTGGAT [A/C/G/T] CTGAGAACTTCAGGGTGAGTCTATG (Strand: -)
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: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71025 |
| 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: | French |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Wajcman H, Belkhodja O, Labie D, [Niort hemoglobin: a new unstable hemoglobin]., Bull. Soc. Chim. Biol. , 52(11), 1223-31, 1970
Created on 2014-05-28 09:55:05,
Last reviewed on (Show full history)
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