IthaID: 1472


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 40 AGG>AAG HGVS Name: HBG1:c.122G>A
Hb Name: Hb F-Woodstock Protein Info: Aγ 40(C6) Arg>Lys

Context nucleotide sequence:
CTGGTTGTCTACCCATGGACCCAGA [A/G] GTTCTTTGACAGCTTTGGCAACCTG (Strand: -)

Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQKFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDATKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTAVASALSSRYH

Also known as:

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: 48055
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: African
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Huisman TH, Kutlar F, Gu LH, Gamma chain abnormalities and gamma-globin gene rearrangements in newborn babies of various populations., Hemoglobin, 15(5), 349-79, 1991
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.