IthaID: 1482


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 80 GAT>TAT [Asp>Tyr] HGVS Name: HBG1:c.241G>T
Hb Name: Hb F-Victoria Jubilee Protein Info: Aγ 80(EF4) Asp>Tyr

Context nucleotide sequence:
GGGAGATGCCACAAAGCACCTGGAT [A/C/G/T] ATCTCAAGGGCACCTTTGCCCAGCT (Strand: -)

Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDATKHLDYLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTAVASALSSRYH

Also known as:

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 48174
Size: 1 bp
Located at:
Specific Location: Exon 2

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: Missense codons (Protein Structure)
Ethnic Origin: African
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Ahern E, Holder W, Ahern V, Serjeant GR, Serjeant BE, Forbes M, Brimhall B, Jones RT, Haemoglobin F Victoria Jubilee (alpha 2 A gamma 2 80 Asp-Try)., Biochimica et biophysica acta, 393(1), 188-94, 1975
Created on 2010-06-16 16:13:17, Last reviewed on 2014-05-28 17:27:58 (Show full history)

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