IthaID: 682
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 95 CCG>TCG [Pro>Ser] | HGVS Name: | NM_000517.4(HBA2):c.286C>T |
| Hb Name: | Hb Rampa | Protein Info: | α2 95(G2) Pro>Ser |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GCACGCGCACAAGCTTCGGGTGGAC [C/T] CGGTCAACTTCAAGGTGAGCGGCGG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDSVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34178 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Indian, North European |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- de Jong WW, Bernini LF, Meera Khan P, Haemoglobin Rampa: Alpha 95 Pro--Ser., Biochim. Biophys. Acta , 236(1), 197-200, 1971
- Hoyer JD, Rachut E, Kubik KS, Jones RT, Honig GR, Vida LN, Fairbank VF, Hb Rampa [alpha 95(G2)pro-->Ser (alpha 2)] in a family of European ancestry: DNA analysis confirms the CCG-->TCG mutation at codon 95 of the alpha 2-globin gene; clinical and laboratory features., Hemoglobin, 26(4), 397-403, 2002
Created on 2010-06-16 16:13:16,
Last reviewed on 2024-04-12 10:21:55 (Show full history)
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