IthaID: 666
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 91 CTT>CCT [Leu>Pro] | HGVS Name: | HBA2:c.275T>C |
| Hb Name: | Hb Port Phillip | Protein Info: | α2 91(FG3) Leu>Pro |
Context nucleotide sequence:
CTGAGCGACCTGCACGCGCACAAGC [T/C] TCGGGTGGACCCGGTCAACTTCAAG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKPRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34167 |
| 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: | Chinese |
| Molecular mechanism: | Altered secondary structure |
| 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
- Brennan SO, Tauro GP, Melrose W, Haemoglobin Port Phillip alpha91 (FG3) Leu replaced by Pro, a new unstable haemoglobin., FEBS Lett. , 81(1), 115-7, 1977 PubMed
- Du L, Bao X, Qin D, Wang J, Yao C, Liang J, Chen J, Yin A, Compounded with hemoglobin Port Phillip and -α4.2 or --SEA deletions were identified in Chinese population., Mol Genet Genomic Med, 9(9), e1699, 2021 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2021-10-14 11:46:31 (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 11:29:53 | The IthaGenes Curation Team | Reviewed. Added reference, ClinVar link, allele phenotype and common name. |
| 4 | 2021-10-14 11:46:31 | The IthaGenes Curation Team | Reviewed. HGVS, protein names and gene corrected. Reference added. |
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IthaGenes was last updated on 2024-11-20 13:24:07