IthaID: 3379
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 139 AAA>CAA [Lys>Gln] | HGVS Name: | HBA2:c.418A>C |
| Hb Name: | Hb Jilin | Protein Info: | α2 139(HC1) Lys>Gln |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
TTCTGTGAGCACCGTGCTGACCTCC [A>C] AATACCGTTAAGCTGGAGCCTCGGT (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSQYR
Comments: Found in a heterozygous state. Perceived to be haematologically silent. Its chromatographic profile suggests a probable interference during the monitoring of glycated haemoglobin (HbA1c).
External Links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | Silent Hb |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34452 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Xu A, Li J, Chen W, Ji L, Identification of a novel hemoglobin variant Hb Jilin [α139(HC1)Lys>Gln; HBA2:C.418 A>C] in a Chinese family., Int J Lab Hematol, 2018
Created on 2019-04-08 10:48:28,
Last reviewed on 2019-04-09 11:26:53 (Show full history)
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