IthaID: 2293

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: CD 326 (GAG>AAG) HGVS Name: NG_013087.1:g.7207G>T

Context nucleotide sequence:

Also known as:

Comments: Protein Change: L326R. Cause bordeline HbA2

External Links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):Increased expression for δ
Associated Phenotypes: N/A


Chromosome: 19
Locus: NG_013087.1
Locus Location: 7207
Size: 1 bp
Located at: KLF1
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Nonsense codon (Translation)
Ethnic Origin: Sardinians
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

Publications / Origin

  1. Perseu L, Satta S, Moi P, Demartis FR, Manunza L, Sollaino MC, Barella S, Cao A, Galanello R, KLF1 gene mutations cause borderline HbA(2)., Blood , 118(16), 4454-8, 2011
Created on 2013-12-20 11:33:54, Last reviewed on 2014-03-20 10:58:39 (Show full history)

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