IthaID: 3093



Names and Sequences

Functionality: Disease modifying mutation
Common Name: CD 316 TGC>TAC [Cys>Tyr] HGVS Name: NG_013087.1:g.7177G>A

Context nucleotide sequence:
AGCCATACGCCTGCACGTGGGAAGGCT [C/T] CGGCTGGAGATTCGCGCGCTCGG (Strand: -)

Protein sequence:
MATAETALPSISTLTALGPFPDTQDDFLKWWRSEEAQDMGPGPPDPTEPPLHVKSEDQPGEEEDDERGADATWDLDLLLTNFSGPEPGGAPQTCALAPSEASGAQYPPPPETLGAYAGGPGLVAGLLGSEDHSGWVRPALRARAPDAFVGPALAPAPAPEPKALALQPVYPGPGAGSSGGYFPRTGLSVPAASGAPYGLLSGYPAMYPAPQYQGHFQLFRGLQGPAPGPATSPSFLSCLGPGTVGTGLGGTAEDPGVIAETAPSKRGRRSWARKRQAAHTCAHPGCGKSYTKSSHLKAHLRTHTGEKPYACTWEGYGWRFARSDELTRHYRKHTGQRPFRCQLCPRAFSRSDHLALHMKRHL

Comments: Protein change: C316Y. Found as a heterozygote in a Japanese patient with mild β-thalassaemia. Mutation is located on the second zinc finger domain and shown to affect its binding affinity to the β-globin promoter, resulting in reduced β-globin gene expression.

External Links

No available links

Location

Chromosome: 19
Locus: NG_013087.1
Locus Location: 7177
Size: 1 bp
Located at: KLF1
Specific Location: Exon 3

Phenotype

Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):Decreased expression for β
Associated Phenotypes: Hb levels [HP:0011902]

Other details

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

Sequence Viewer

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Publications / Origin

  1. Nitta T, Kawano F, Yamashiro Y, Takagi F, Murata T, Tanaka T, Ferania M, Adhiyanto C, Hattori Y, A new Krüppel-like factor 1 mutation (c.947G > A or p.C316Y) in humans causes β-thalassemia minor., Hemoglobin , 39(2), 121-6, 2015 PubMed
Created on 2016-09-14 11:16:11, Last reviewed on (Show full history)

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