IthaID: 604



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 72 CAC>CGC [His>Arg] HGVS Name: HBA2:c.218A>G
Hb Name: Hb Daneshgah-Tehran Protein Info: α2 72(EF1) His>Arg

Context nucleotide sequence:
GACGCGCTGACCAACGCCGTGGCGC [A/G] CGTGGACGACATGCCCAACGCGCTG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVARVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34110
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Argentine, Iranian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Rahbar S, Nowazari G, Danéshmand P, Haemoglobin Daneshgah-Tehran alpha2 72 (EPI) histidine--arginine betaA2., Nature New Biol. , 245(148), 268-9, 1973 PubMed
  2. de Weinstein BI, Kutlar A, Webber BB, Wilson JB, Huisman TH, Hemoglobin Daneshgah-Tehran or alpha 2(72) (EF1) His----Arg beta 2 in an Argentinean family., Hemoglobin , 9(4), 409-11, 1985 PubMed
  3. Jorge SB, Melo MB, Costa FF, Sonati MF, Screening for mutations in human alpha-globin genes by nonradioactive single-strand conformation polymorphism., Braz. J. Med. Biol. Res. , 36(11), 1471-4, 2003 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2021-04-07 11:46:47 (Show full history)

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