IthaID: 1466



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 22 GAT>GGT HGVS Name: HBG1:c.68A>G
Hb Name: Hb F-Kuala Lumpur Protein Info: Aγ 22(B4) Asp>Gly

Context nucleotide sequence:
CTGTGGGGCAAGGTGAATGTGGAAG [A/G/T] TGCTGGAGGAGAAACCCTGGGAAGG (Strand: -)

Protein sequence:
MGHFTEEDKATITSLWGKVNVEGAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDATKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTAVASALSSRYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 47879
Size: 1 bp
Located at:
Specific Location: Exon 1

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: Indian
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Luan Eng LI, Wiltshire BG, Lehmann H, Structural identification of haemoglobin F Kuala Lumpur: alpha2 gamma2 22(B4)Asp leads to Gly; 136 Ala., Biochimica et biophysica acta, 322(2), 224-30, 1973 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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