IthaID: 3378


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 114 CCC>CAC [Pro>His] HGVS Name: HBA1:c.344C>A
Hb Name: Hb Hubei Protein Info: α1 114(GH2) Pro>His

Context nucleotide sequence:
CTGGTGACCCTGGCCGCCCACCTCC [C>A] CGCCGAGTTCACCCCTGCGGTGCAC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLHAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Found in a heterozygous state. The mutation caused a substitution of proline to histidine at position 114 that involved α1β1 interactions. The mutation Prο>His may change the GH2 corner of the α-globin chain and hydrophobicity of this part of the chain.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

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: 38189
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

  1. Xu AP, Li J, Chen WD, Zhou Y, Ji L, Hb Hubei [α114(GH2)Pro→His, HBA1: c.344C>A]: A Novel Hemoglobin Variant of the α1-Globin Chain., Hemoglobin, 42(3), 206-208, 2018
Created on 2019-04-08 09:50:24, Last reviewed on 2019-04-08 15:37:07 (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.