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 |
Context nucleotide sequence:
GCTGGTGACCCTGGCCGCCCACCTC [C/G] CCGCCGAGTTCACCCCTGCGGTGCA (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLAAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Found in a 72-year old male with a 15-year history of type 2 diabetes.
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: | 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
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
- 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 PubMed
- 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 PubMed
Created on 2014-01-10 14:07:17,
Last reviewed on 2024-04-12 12:00:02 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2014-01-10 14:07:17 | The IthaGenes Curation Team | Created |
| 2 | 2014-01-10 14:07:17 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2021-03-24 15:22:10 | The IthaGenes Curation Team | Reviewed. HGVS name, selected gene and protein name corrected. Reference and comment added. |
| 4 | 2021-03-24 15:23:13 | The IthaGenes Curation Team | Reviewed. Chromosome and locus location corrected. |
| 5 | 2024-04-12 12:00:02 | The IthaGenes Curation Team | Reviewed. HGVS name and link corrected. Reference added. |
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IthaGenes was last updated on 2024-04-24 11:43:02