IthaID: 3367



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 66 AAA>ATA [Lys>Ile] HGVS Name: HBB:c.200A>T
Hb Name: Hb Vigo Protein Info: β 66(E10) Lys>Ile

Context nucleotide sequence:
CCTAAGGTGAAGGCTCATGGCAAGA [A/T] AGTGCTCGGTGCCTTTAGTGATGGC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKIVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70924
Size: 1 bp
Located at: β
Specific Location: Exon 2

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Spanish
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Unknown

Sequence Viewer

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Publications / Origin

  1. Mañú Pereira MD, Ropero P, Loureiro C, Vives Corrons JL, Low affinity hemoglobinopathy (Hb Vigo) due to a new mutation of beta globin gene (c200 A>T; Lys>Ile). A cause of rare anemia misdiagnosis., Am. J. Hematol., 92(4), E38-E40, 2017 PubMed
Created on 2019-04-05 11:44:45, Last reviewed on 2019-04-05 11:56:00 (Show full history)

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