IthaID: 719
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 116 GAG>GCG [Glu>Ala] | HGVS Name: | HBA1:c.350A>C |
| Hb Name: | Hb Ube-4 | Protein Info: | α1 116(GH4) Glu>Ala |
Context nucleotide sequence:
ACCCTGGCCGCCCACCTCCCCGCCG [A/C] GTTCACCCCTGCGGTGCACGCCTCC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAAFTPAVHASLDKFLASVSTVLTSKYR
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: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 38195 |
| 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: | Japanese, Korean |
| 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
- Ohba Y, Miyaji T, Matsuoka M, Morito M, Iuchi I, Characterization of Hb Ube-4: alpha 116 (GH4) Glu yield Ala., Hemoglobin , 2(2), 181-6, 1978 PubMed
- Iuchi I, Hidaka K, Ueda S, Shibata S, Hitomi F, Takesue A, Hb Ube-4 (alpha 116 Glu leads to Ala): a second independent instance found in a Korean family of Japan., Hemoglobin , 2(6), 561-3, 1978 PubMed
- Huang Y, Lin M, Lin CP, Wu JR, Zheng LH, Yang LY, Molecular characteristics of three hemoglobin variants observed in a Chinese population: Hb Ube-1 [β98 (FG5) Val→Met], Hb Ube‑2 [α68 (E17) Asn→Asp] and Hb Ube‑4 [α116 (GH4) Glu→Ala]., Mol Med Rep, 4(4), 681-5, 2011 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2021-04-07 12:31:42 (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 17:33:29 | The IthaGenes Curation Team | Reviewed. Added common name, references and ClinVar link. |
| 4 | 2021-04-07 12:31:12 | The IthaGenes Curation Team | Reviewed. HGVS, protein name and Locus location corrected. Reference added. |
| 5 | 2021-04-07 12:31:42 | The IthaGenes Curation Team | Reviewed. Allele corrected. |
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IthaGenes was last updated on 2024-04-24 11:43:02