IthaID: 2515

Names and Sequences

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

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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

Phenotype

Allele Phenotype (Cis):	N/A
Allele Phenotype (Trans):	Increased expression for Aγ or Gγ
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:	6783
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:	Chinese, Thai
Molecular mechanism:	N/A
Inheritance:	Quantitative trait
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

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
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

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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