IthaID: 1423


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 26 GAA>AAA HGVS Name: HBG2:c.79G>A
Hb Name: Hb F-Oakland Protein Info: Gγ 26(B8) Glu>Lys

Context nucleotide sequence:
GGTGAATGTGGAAGATGCTGGAGGA [A/G] AAACCCTGGGAAGGTAGGCTCTGGT (Strand: -)

Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGKTLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH

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: 42966
Size: 1 bp
Located at:
Specific Location: Exon 1

Other details

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

Publications / Origin

  1. Kleman K, Lubin B, Wilson JB, Kutlar A, Webber BB, Huisman TH, Hb F-Oakland or alpha 2G gamma I2(26)(B8)Glu----Lys., Hemoglobin, 11(2), 181-3, 1987
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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