IthaID: 782
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 141 CGT>CTT [Arg>Leu] | HGVS Name: | HBA1:c.425G>T |
| Hb Name: | Hb Legnano | Protein Info: | α1 141(HC3) Arg>Leu |
Context nucleotide sequence:
AGCACCGTGCTGACCTCCAAATACC [G/T] TTAAGCTGGAGCCTCGGTAGCCGTT (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYL
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: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 38270 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Italian, Japanese, Chinese |
| 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
- Mavilio F, Marinucci M, Tentori L, Fontanarosa PP, Rossi U, Biagiotti S, Hemoglobin Legnano (alpha2 141 (HC3) Arg replaced by Leu beta2): a new abnormal human hemoglobin with high oxygen affinity., Hemoglobin , 2(3), 249-59, 1978 PubMed
- Qin WB, Yue XL, Qin LY, Jü TL, Wilson JB, Gu LH, Huisman TH, Two rare hemoglobin variants: Hb Pyrgos [beta 83(EF7)Gly-->Asp] and Hb Legnano [alpha 141(Hc3)Arg-->Leu] found in Inner Mongolia, P. R. China., Hemoglobin, 18(0), 343-5, 1994 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2021-04-07 12:59:13 (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 | 2014-04-15 15:31:34 | The IthaGenes Curation Team | Reviewed. Added common name, allele phenotype, reference and ClinVar link. |
| 4 | 2021-04-07 12:59:13 | The IthaGenes Curation Team | Reviewed. HGVS, protein name and Locus location corrected. Reference and origin added. |
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IthaGenes was last updated on 2024-11-20 13:24:07