IthaID: 2316
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 114 CCC>GCC [Pro>Ala] | HGVS Name: | NM_000558.5(HBA1):c.343C>G |
| Hb Name: | Hb Broomhill | Protein Info: | α1 114(GH2) Pro>Ala |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GCTGGTGACCCTGGCCGCCCACCTC [C/G] CCGCCGAGTTCACCCCTGCGGTGCA (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLAAEFTPAVHASLDKFLASVSTVLTSKYR
Comments: Found in a 72-year old male with a 15-year history of type 2 diabetes.
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: | 38188 |
| 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: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Yuan Yanping,Zhou Xianghai,Ren Qian,Ji Linong, Hb broomhill [α1 or α2 114(GH2) pro > ala;HBA1 or HBA2:c.343C > G]: a rare Hb variant found in a diabetic chinese individual., Scand J Clin Lab Invest, 7(7), 606-609, 2020
- Qin Danqing,Du Li,Wang Jicheng,Yao Cuize,Guo Hao,Yuan Tenglong,Liang Jie,Yin Aihua, Compound heterozygosity for hemoglobin variant Hb-Broomhill and the Southeast Asian α-thalassemia deletion does not worsen outcome: a case report of two unrelated patients., J Int Med Res, 11(11), 300060520967825, 2021
Created on 2014-01-10 14:07:17,
Last reviewed on 2024-04-12 12:00:02 (Show full history)
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