IthaID: 892



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 26 GAG>AAG; CD 121 GAA>CAA HGVS Name: HBB:c.[79G>A;364G>C]
Hb Name: Hb T-Cambodia Protein Info: β 26(B8) Glu>Lys AND β 121(GH4) Glu>Gln

Context nucleotide sequence:
TGTGCTGGCCCATCACTTTGGCAAA [A/C/G/T] AATTCACCCCACCAGTGCAGGCTGC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGKALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70673
Size: 1 bp
Located at: β
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: Unstable
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: Cambodian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Hutt PJ, Fairbanks VF, Thibodeau SN, Green MM, Hoyer JD, Block SH, Day C, Jones RT, Barwick RC, Hb T-Cambodia, a beta chain variant with the mutations of Hb E and Hb D-Punjab, confirmed by DNA analysis., Hemoglobin, 21(3), 205-18, 1997 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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