IthaID: 558

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
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:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A


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

In silico pathogenicity prediction

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)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.