IthaID: 3001



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 111 GTC>GGC [Val>Gly] HGVS Name: HBB:c.335T>G
Hb Name: Hb Belluno Protein Info: β 111(G13) Val>Gly

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLGCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Comments: Found as a heterozygote with normal clinical presentation. The variant showed mild instability with both heat and isopropanol tests.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71909
Size: 1 bp
Located at: β
Specific Location: Exon 3

Phenotype

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

Other details

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

Sequence Viewer

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Publications / Origin

  1. Pianezze G, Toniolo M, Taddei Masieri M, Dolcini B, Ravani A, Hb Belluno [β111(G13)Val→Gly;β133(H11)Val→Val (HBB: c.335T > G;402G > C)]: Incidental Detection of a New Clinically Silent β Chain Variant During Hb A1c Determination by High Performance Liquid Chromatography., Hemoglobin , 40(3), 143-9, 2016 PubMed
Created on 2016-08-24 09:59:50, Last reviewed on 2016-08-24 13:30:27 (Show full history)

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