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:

Protein sequence:

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.

External Links


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A


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

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. 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
  2. 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)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.