IthaID: 1471


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 39 CAG>CGG HGVS Name: HBG1:c.119A>G
Hb Name: Hb F-Bonaire-GA Protein Info: Aγ 39(C5) Gln>Arg

Context nucleotide sequence:
CTCCTGGTTGTCTACCCATGGACCC [A/G] GAGGTTCTTTGACAGCTTTGGCAAC (Strand: -)

Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTRRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDATKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTAVASALSSRYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 48052
Size: 1 bp
Located at:
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Caucasian-Vietnamese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Nakatsuji T, Headlee M, Lam H, Wilson JB, Huisman TH, Hb F-Bonaire-Ga or alpha 2 A gamma 2 39(C5) Gln replaced by Arg, characterized by high pressure liquid chromatographic and microsequencing procedures., Hemoglobin, 6(6), 599-606, 1982
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (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.