IthaID: 623



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 77 CCC>CGC [Pro>Arg] HGVS Name: HBA1:c.233C>G | HBA2:c.233C>G
Hb Name: Hb GuiZhou Protein Info: α2 or α1 77(EF6) Pro>Arg

Context nucleotide sequence:
GCCGTGGCGCACGTGGACGACATGC [A/C/G] CAACGCGCTGTCCGCCCTGAGCGAC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMRNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34125 or 37929
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-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: Japanese, Chinese
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Liang CC, Xiong F, Yang KG, Chen SS, Jia PC, Zhang MQ, Zhao ZH, Hemoglobin GuiZhou or alpha 277(EF6)Pro----Arg beta 2, a new slow-moving hemoglobin variant observed in China., Hemoglobin , 8(4), 387-90, 1984 PubMed
  2. Hattori Y, Ohba Y, Suda T, Miura Y, Yoshinaka H, Miyaji T, Hemoglobin GuiZhou in Japan., Hemoglobin , 9(2), 187-92, 1985 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-10 10:27:58 (Show full history)

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