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 |
Context nucleotide sequence:
GCACGCGCACAAGCTTCGGGTGGAC [C/T] CGGTCAACTTCAAGGTGAGCGGCGG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDSVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- de Jong WW, Bernini LF, Meera Khan P, Haemoglobin Rampa: Alpha 95 Pro--Ser., Biochim. Biophys. Acta , 236(1), 197-200, 1971 PubMed
- 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 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2024-04-12 10:21:55 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-14 14:41:14 | The IthaGenes Curation Team | Reviewed. Added reference, allele phenotype, ClinVar link and common name |
| 4 | 2021-04-07 12:19:41 | The IthaGenes Curation Team | Reviewed. HGVS, protein name and Locus location corrected. Reference added. |
| 5 | 2024-04-12 10:21:55 | The IthaGenes Curation Team | Reviewed. HGVS name and Links corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07