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:

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: 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

In silico pathogenicity prediction

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)

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