IthaID: 3089

Names and Sequences

Functionality:	Disease modifying mutation	Pathogenicity:	N/A
Common Name:	CD 358 ATG>ATT [Met>Ile]	HGVS Name:	NG_013087.1:g.7304G>T

Protein sequence:
MATAETALPSISTLTALGPFPDTQDDFLKWWRSEEAQDMGPGPPDPTEPPLHVKSEDQPGEEEDDERGADATWDLDLLLTNFSGPEPGGAPQTCALAPSEASGAQYPPPPETLGAYAGGPGLVAGLLGSEDHSGWVRPALRARAPDAFVGPALAPAPAPEPKALALQPVYPGPGAGSSGGYFPRTGLSVPAASGAPYGLLSGYPAMYPAPQYQGHFQLFRGLQGPAPGPATSPSFLSCLGPGTVGTGLGGTAEDPGVIAETAPSKRGRRSWARKRQAAHTCAHPGCGKSYTKSSHLKAHLRTHTGEKPYACTWEGCGWRFARSDELTRHYRKHTGQRPFRCQLCPRAFSRSDHLALHIKRHL

Also known as:

Comments: Protein change: M358I. Amino acid substitution in a conserved region of the zinc finger domain 3. SNP was identified in Thai subjects with Hb E disorder and high levels of HbF (853 cases; 100 controls).

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Allele Phenotype (Cis):	N/A
Allele Phenotype (Trans):	Increased expression for Aγ or Gγ
Associated Phenotypes:	Hb F levels [HP:0011904] [OMIM:141749]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	19
Locus:	NG_013087.1
Locus Location:	7304
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:	Thai
Molecular mechanism:	N/A
Inheritance:	Quantitative trait
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Tepakhan W, Yamsri S, Sanchaisuriya K, Fucharoen G, Xu X, Fucharoen S, Nine known and five novel mutations in the erythroid transcription factor KLF1 gene and phenotypic expression of fetal hemoglobin in hemoglobin E disorder., Blood Cells Mol. Dis. , 59(0), 85-91, 2016 PubMed

Created on 2016-09-13 09:05:40, Last reviewed on 2016-09-13 11:08:49 (Show full history)

A/A	Date	Curator(s)	Comments
1	2016-09-13 09:05:40	The IthaGenes Curation Team	Created
2	2016-09-13 11:08:22	The IthaGenes Curation Team	Reviewed. Mutation comment updated.
3	2016-09-13 11:08:49	The IthaGenes Curation Team	Reviewed.

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