IthaID: 1455


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 120 AAA>CAA HGVS Name: HBG2:c.361A>C
Hb Name: Hb F-Caltech Protein Info: Gγ 120(GH3) Lys>Gln

Context nucleotide sequence:
GACCGTTTTGGCAATCCATTTCGGC [A/C] AAGAATTCACCCCTGAGGTGCAGGC (Strand: -)

Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGQEFTPEVQASWQKMVTGVASALSSRYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 44256
Size: 1 bp
Located at:
Specific Location: Exon 3

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: French, Hispanis, Swedish
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Publications / Origin

  1. Shelton JB, Shelton JR, Espinueva Z, Huynh V, Schroeder WA, Powars D, Hemoglobin F-Caltech: alpha 2 G gamma 2 120Lys replaced by Gln., Hemoglobin, 6(6), 577-92, 1982
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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