IthaID: 774
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 139 AAA>AAC [Lys>Asn] | HGVS Name: | HBA2:c.420A>C |
| Hb Name: | Hb Fukui | Protein Info: | α2 139(HC1) Lys>Asn |
Context nucleotide sequence:
CTGTGAGCACCGTGCTGACCTCCAA [A/C] TACCGTTAAGCTGGAGCCTCGGTAG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSNYR
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: | 34454 |
| 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: | Japanese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Harano T, Suetsugu Y, Harano K, Than AM, Hong YF, Kuroda A, A new hemoglobin variant, Hb Fukui [alpha139(HC1)Lys --> Asn (AAA --> AAC) (alpha2)]., Hemoglobin , 27(2), 117-21, 2003
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-04-15 12:46:07 (Show full history)
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