IthaID: 3149



Names and Sequences

Functionality: Disease modifying mutation
Common Name: CD 360 CGC>CAC [Arg>His] HGVS Name: NG_013087.1:g.7309G>A

Context nucleotide sequence:
GTGCCAGGGCAGGGCTCAAAGGTGG [C/T] GCTTCATGTGCAAGGCCAGGTGGTC (Strand: +)

Protein sequence:
MATAETALPSISTLTALGPFPDTQDDFLKWWRSEEAQDMGPGPPDPTEPPLHVKSEDQPGEEEDDERGADATWDLDLLLTNFSGPEPGGAPQTCALAPSEASGAQYPPPPETLGAYAGGPGLVAGLLGSEDHSGWVRPALRARAPDAFVGPALAPAPAPEPKALALQPVYPGPGAGSSGGYFPRTGLSVPAASGAPYGLLSGYPAMYPAPQYQGHFQLFRGLQGPAPGPATSPSFLSCLGPGTVGTGLGGTAEDPGVIAETAPSKRGRRSWARKRQAAHTCAHPGCGKSYTKSSHLKAHLRTHTGEKPYACTWEGCGWRFARSDELTRHYRKHTGQRPFRCQLCPRAFSRSDHLALHMKHHL

Comments: SNP associated with elevated HbF in a compound heterozygous β-thalassaemia patient with a nontransfusion-dependent thalassaemia phenotype.

External Links

Location

Chromosome: 19
Locus: NG_013087.1
Locus Location: 7309
Size: 1 bp
Located at: KLF1
Specific Location: Exon 3

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]

Other details

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

Sequence Viewer

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Publications / Origin

  1. Gallagher PG, Maksimova Y, Schulz VP, Forget BG, Mutation in a Highly Conserved COOH-Terminal Residue of Krüppel-Like Factor 1 Associated with Elevated Hb F in a Compound Heterozygous β-Thalassemia Patient with a Nontransfusion-Dependent Thalassemia Phenotype., Hemoglobin , 40(5), 361-364, 2016 PubMed
Created on 2017-01-24 12:42:42, Last reviewed on 2017-01-24 12:48:38 (Show full history)

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