IthaID: 558


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 53 GCC>GAC [Ala>Asp] HGVS Name: HBA2:c.161C>A
Hb Name: Hb J-Rovigo Protein Info: α2 53(E2) Ala>Asp

Context nucleotide sequence:
CACTTCGACCTGAGCCACGGCTCTG [C/A] CCAGGTTAAGGGCCACGGCAAGAAG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSDQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

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: 34053
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: Italian, Brazilian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Alberti R, Mariuzzi GM, Artibani L, Bruni E, Tentori L, A new haemoglobin variant: J-Rovigo alpha 53 (E-2) alanine leads to aspartic acid., Biochim. Biophys. Acta , 342(1), 1-4, 1974
  2. Moo-Penn WF, Jue DL, Baine RM, Hemoglobin J Rovigo (alpha53 Ala replaced by Asp) in association with beta-thalassemia., Hemoglobin , 2(5), 443-5, 1978
  3. Wenning MR, Kimura EM, Jorge SB, Costa FF, Sonati MF, Molecular characterization of hemoglobins Kurosaki [alpha7 Lys-->Glu], G-Pest [alpha74 Asp-->Asn], Stanleyville-II [alpha78 Asn-->Lys] and J-Rovigo [alpha53 Ala-->Asp]., Acta Haematol. , 102(4), 203-5, 1999
Created on 2010-06-16 16:13:15, Last reviewed on 2021-04-07 10:57:40 (Show full history)

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