IthaID: 1017

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 65 AAG>AAC or AAT HGVS Name: HBB:c.198G>C | HBB:c.198G>T
Hb Name: Hb J-Sicilia Protein Info: β 65(E9) Lys>Asn

Context nucleotide sequence:

Protein sequence:

Also known as:


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70922
Size: 1 bp
Located at: β
Specific Location: Exon 2


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-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: N/A
Ethnic Origin: Sicilian
Inheritance: Recessive
DNA Sequence Determined: No

Sequence Viewer

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Publications / Origin

  1. Ricco G, Pich PG, Mazza U, Rossi G, Ajmar F, Arese P, Gallo E, Hb J Sicilia: beta 65 (E9) Lys-Asn, a beta homologue of Hb Zambia., FEBS letters, 39(2), 200-4, 1974 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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