IthaID: 1449


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 101 GAG>AAG HGVS Name: HBG2:c.304G>A
Hb Name: Hb F-La Grange Protein Info: Gγ 101(G3) Glu>Lys

Context nucleotide sequence:
CTGTGACAAGCTGCATGTGGATCCT [A/C/G] AGAACTTCAAGGTGAGTCCAGGAGA (Strand: -)

Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPKNFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH

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: Unstable
Oxygen Affinity: Increased Oxygen Affinity
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 43313
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
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Nakatsuji T, Shimizu K, Huisman TH, Hb F-La Grange or alpha 2 gamma 2 101(G3)Glu----Lys; 75Ile; 136Gly: a high oxygen affinity fetal hemoglobin variant observed in a Caucasian newborn., Biochimica et biophysica acta, 789(2), 224-8, 1984
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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