IthaID: 3485

Names and Sequences

Functionality:	Disease modifying mutation	Pathogenicity:	N/A
Common Name:	CD 182 TTC>CTC [Phe>Leu]	HGVS Name:	NG_013087.1:g.6518T>C

Protein sequence:
MATAETALPSISTLTALGPFPDTQDDFLKWWRSEEAQDMGPGPPDPTEPPLHVKSEDQPGEEEDDERGADATWDLDLLLTNFSGPEPGGAPQTCALAPSEASGAQYPPPPETLGAYAGGPGLVAGLLGSEDHSGWVRPALRARAPDAFVGPALAPAPAPEPKALALQPVYPGPGAGSSGGYLPRTGLSVPAASGAPYGLLSGYPAMYPAPQYQGHFQLFRGLQGPAPGPATSPSFLSCLGPGTVGTGLGGTAEDPGVIAETAPSKRGRRSWARKRQAAHTCAHPGCGKSYTKSSHLKAHLRTHTGEKPYACTWEGCGWRFARSDELTRHYRKHTGQRPFRCQLCPRAFSRSDHLALHMKRHL

Also known as: rs2072596, p.F182L

Comments: Found as a heterozygote in β0/HbE Thai patients with elevated HbF levels (26-45%, n=5), presenting with a severe phenotype. Found as a heterozygote in an Iranian patient heterozygous for Hb Dhonburi, presenting with a β-thalassaemia minor phenotype.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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:	6518
Size:	1 bp
Located at:	KLF1
Specific Location:	Exon 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Khamphikham P, Sripichai O, Munkongdee T, Fucharoen S, Tongsima S, Smith DR, Genetic variation of Krüppel-like factor 1 (KLF1) and fetal hemoglobin (HbF) levels in β0-thalassemia/HbE disease., Int. J. Hematol. , 2017 PubMed
Tamaddoni A, Khabaz Astaneh S, Tabaripour R, Akhavan-Niaki H, Gene Mutations in Thalassemia Patients from North Iran: Report of a New Mutation Associated with β-Thalassemia Intermedia., Hemoglobin, 43(1), 12-17, 2019 PubMed

Created on 2019-11-05 12:45:26, Last reviewed on 2019-11-05 12:47:37 (Show full history)

A/A	Date	Curator(s)	Comments
1	2019-11-05 12:45:26	The IthaGenes Curation Team	Created
2	2019-11-05 12:47:37	The IthaGenes Curation Team	Reviewed. Reference added.

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