IthaID: 2291



Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: CD 56 GTG > GGG HGVS Name: NT_010393.16:g.31479870T>G

Context nucleotide sequence:
ACATGGTGACTGTGGTGGAGGACTGGATGAACTTCTACATCAACTATTACAGGCAGCAGG [T/G] GACAGGGGAGCCCCAAGAGCGAGACAAGGCTCTGCAGGAGCTTCGGCAAG (Strand: +)

Also known as: V56G, rs186590045

Comments: The AHSP structural variant produced by the G allele shows decreased interaction with alpha globin and is thus predicted as an aggravating modifier of the thalassemias, in particular of beta-thalassaemia. This assumption is supported by the observation of moderate thalassaemia in a homozygote for AHSP(V56G) during his first year of life.

External Links

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):Precipitation for α1 or α2
Associated Phenotypes: Anaemia [HP:0001903]

Location

Chromosome: 16
Locus: NT_010393.16
Locus Location: 31479870
Size: 1 bp
Located at: AHSP
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Afro-Caribbean, Indian, Brasilian, Mediterranean, Papua New Guinean, Melanesian, South-east Asian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Wang Z, Yu W, Li Y, Shang X, Zhang X, Xiong F, Xu X, Analysis of alpha-hemoglobin-stabilizing protein (AHSP) gene as a genetic modifier to the phenotype of beta-thalassemia in Southern China., Blood Cells Mol. Dis. , 45(2), 128-32, 2010 PubMed
  2. Brillet T, Baudin-Creuza V, Vasseur C, Domingues-Hamdi E, Kiger L, Wajcman H, Pissard S, Marden MC, Alpha-hemoglobin stabilizing protein (AHSP), a kinetic scheme of the action of a human mutant, AHSPV56G., J. Biol. Chem. , 285(23), 17986-92, 2010 PubMed
  3. Wajcman H, Vasseur C, Pissard S, Baudin-Creuza V, α-Hemoglobin stabilizing protein: a modulating factor in thalassemias?, Hemoglobin , 35(5), 463-8, 2011 PubMed
Created on 2013-10-17 11:14:45, Last reviewed on 2019-07-04 12:04:09 (Show full history)

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