IthaID: 567
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 56 AAG>AAT or AAC [Lys>Asn] | HGVS Name: | HBA1:c.171G>C | HBA1:c.171G>T |
| Hb Name: | Hb Belliard | Protein Info: | α1 56(E5) Lys>Asn |
Context nucleotide sequence:
CGTCGGCCACCTTCTTGCCGTGGCC [G/T/C] TTAACCTGGGCAGAGCCGTGGCTCA (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVNGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | 37867 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Spanish, Indian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Wajcman H, Gombaud-Saintonge G, Galacteros F, Martha M, Vertongen F, Hb Belliard [alpha 56(E5)Lys----Asn] a new fast-moving alpha chain variant found in a subject of Spanish origin., Hemoglobin , 13(2), 157-62, 1989
- Murthy S, Benavides R, A rare hemoglobin variant, Hb Belliard., Proc (Bayl Univ Med Cent), 30(2), 184-185, 2017
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-04-07 11:08:19 (Show full history)
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