IthaID: 3149

Names and Sequences

Functionality:	Disease modifying mutation	Pathogenicity:	N/A
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

Also known as:

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

External Links

dbSNP

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	19
Locus:	NG_013087.1
Locus Location:	7309
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:	Greek
Molecular mechanism:	N/A
Inheritance:	Quantitative trait
DNA Sequence Determined:	Yes

Publications / Origin

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

Created on 2017-01-24 12:42:42, Last reviewed on 2017-01-24 12:48:38 (Show full history)

A/A	Date	Curator(s)	Comments
1	2017-01-24 12:42:42	The IthaGenes Curation Team	Created
2	2017-01-24 12:45:40	The IthaGenes Curation Team	Reviewed. Location updated.
3	2017-01-24 12:48:37	The IthaGenes Curation Team	Reviewed. Mutation Info updated. dbSNP link added.
4	2017-01-24 12:48:38	The IthaGenes Curation Team	Reviewed. Mutation Info updated. dbSNP link added.

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