IthaID: 2515

Names and Sequences

Functionality:	Disease modifying mutation
Common Name:	CD 270 TCG>TGG	HGVS Name:	NG_013087.1:g.6783C>G

Context nucleotide sequence:
CGCTGCCTGCCTCTTGCGCGCCCAC [C/G] AACGTCGGCCTCGCTTGGATGGCGC (Strand: +)

Protein sequence:
MATAETALPSISTLTALGPFPDTQDDFLKWWRSEEAQDMGPGPPDPTEPPLHVKSEDQPGEEEDDERGADATWDLDLLLTNFSGPEPGGAPQTCALAPSEASGAQYPPPPETLGAYAGGPGLVAGLLGSEDHSGWVRPALRARAPDAFVGPALAPAPAPEPKALALQPVYPGPGAGSSGGYFPRTGLSVPAASGAPYGLLSGYPAMYPAPQYQGHFQLFRGLQGPAPGPATSPSFLSCLGPGTVGTGLGGTAEDPGVIAETAPSKRGRRWWARKRQAAHTCAHPGCGKSYTKSSHLKAHLRTHTGEKPYACTWEGCGWRFARSDELTRHYRKHTGQRPFRCQLCPRAFSRSDHLALHMKRHL

Comments: Protein change: S270W [Ser>Trp]. Found in Chinese subjects with borderline HbA2, and in Thai subjects with Hb E disorder and high levels of HbF.

External Links

dbSNP

Location

Chromosome:	19
Locus:	NG_013087.1
Locus Location:	6783
Size:	1 bp
Located at:	KLF1
Specific Location:	Exon 2

Phenotype

Allele Phenotype (Cis):	N/A
Allele Phenotype (Trans):	Increased expression for Aγ or Gγ
Associated Phenotypes:	Hb F levels [HP:0011904] [OMIM:141749] Abnormal Hb [HP:0011902]

Other details

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

Sequence Viewer

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Publications / Origin

Lou JW, Li DZ, Zhang Y, He Y, Sun MN, Ye WL, Liu YH, Delineation of the molecular basis of borderline hemoglobin A2 in Chinese individuals., Blood Cells Mol. Dis. , 2014 PubMed
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 2014-06-06 08:01:46, Last reviewed on 2016-09-14 10:31:10 (Show full history)

A/A	Date	Curator(s)	Comments
1	2014-06-06 08:01:46	The IthaGenes Curation Team	Created
2	2014-06-06 08:03:03	The IthaGenes Curation Team	Reviewed. Correction of typos.
3	2014-06-06 09:04:17	The IthaGenes Curation Team	Reviewed. Reference added.
4	2014-06-06 09:04:53	The IthaGenes Curation Team	Reviewed.
5	2014-06-12 10:43:45	The IthaGenes Curation Team	Reviewed. Common name corrected.
6	2016-08-11 10:28:24	The IthaGenes Curation Team	Reviewed. Update of mutation characterization.
7	2016-08-11 10:29:41	The IthaGenes Curation Team	Reviewed.
8	2016-08-11 10:33:03	The IthaGenes Curation Team	Reviewed.
9	2016-09-14 10:29:12	The IthaGenes Curation Team	Reviewed. Mutated sequence updated.
10	2016-09-14 10:31:10	The IthaGenes Curation Team	Reviewed. Mutation comment updated.

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