IthaID: 3093

Names and Sequences

Functionality:	Disease modifying mutation	Pathogenicity:	N/A
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

Also known as:

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.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Allele Phenotype (Cis):	N/A
Allele Phenotype (Trans):	Decreased expression for β
Associated Phenotypes:	Hb F levels [HP:0011904] [OMIM:141749] Anaemia [HP:0001903]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

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

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	Missense codons (Protein Structure)
Ethnic Origin:	Japanese
Molecular mechanism:	N/A
Inheritance:	Quantitative trait
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

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)

A/A	Date	Curator(s)	Comments
1	2016-09-14 11:16:11	The IthaGenes Curation Team	Created

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