IthaID: 728


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 121 GTG>ATG [Val>Met] HGVS Name: HBA1:c.364G>A
Hb Name: Hb Owari Protein Info: α1 121(H4) Val>Met

Context nucleotide sequence:
CCTCCCCGCCGAGTTCACCCCTGCG [G/A] TGCACGCCTCCCTGGACAAGTTCCT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAMHASLDKFLASVSTVLTSKYR

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: 38209
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: Japanese, Taiwanese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Harano T, Harano K, Ueda S, Hb Owari [alpha 121 (H 4) Val----Met]: a new hemoglobin variant with a neutral-to-neutral amino acid substitution detected by isoelectric focusing., Hemoglobin , 10(2), 127-34, 1986
  2. Wang LH, Chang CS, Hsieh LL, Er TK, Chang JG, Liu TC, Hb Owari associated with alpha-thalassaemia-1 in a Taiwanese subject., Br J Biomed Sci, 66(4), 205-7, 2009
Created on 2010-06-16 16:13:16, Last reviewed on 2021-04-07 12:38:08 (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.