IthaID: 2513

Names and Sequences

Functionality:	Disease modifying mutation	Pathogenicity:	N/A
Common Name:	rs483352839	HGVS Name:	NG_013087.1:g.7252G>A

Context nucleotide sequence:
CACACGGGGCAGCGCCCCTTCCGCT [G/A] CCAGCTCTGCCCACGTGCTTTTTCG (Strand: -)

Protein sequence:
MATAETALPSISTLTALGPFPDTQDDFLKWWRSEEAQDMGPGPPDPTEPPLHVKSEDQPGEEEDDERGADATWDLDLLLTNFSGPEPGGAPQTCALAPSEASGAQYPPPPETLGAYAGGPGLVAGLLGSEDHSGWVRPALRARAPDAFVGPALAPAPAPEPKALALQPVYPGPGAGSSGGYFPRTGLSVPAASGAPYGLLSGYPAMYPAPQYQGHFQLFRGLQGPAPGPATSPSFLSCLGPGTVGTGLGGTAEDPGVIAETAPSKRGRRSWARKRQAAHTCAHPGCGKSYTKSSHLKAHLRTHTGEKPYACTWEGCGWRFARSDELTRHYRKHTGQRPFRYQLCPRAFSRSDHLALHMKRHL

Also known as: CD 341 TGC>TAC [Cys>Tyr], C341Y

Comments: Found as a heterozygote. Associated with borderline HbA2 levels and slightly elevated HbF levels in the normal Chinese population. Found in Chinese α-thalassaemia carriers with HbF levels of ≥1%.

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] Increased Hb A2 levels [HP:0045048]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	19
Locus:	NG_013087.1
Locus Location:	7252
Size:	1 bp
Located at:	KLF1
Specific Location:	Exon 3

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	N/A
Ethnic Origin:	Chinese
Molecular mechanism:	N/A
Inheritance:	Quantitative trait
DNA Sequence Determined:	Yes

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
Liu D, Zhang X, Yu L, Cai R, Ma X, Zheng C, Zhou Y, Liu Q, Wei X, Lin L, Yan T, Huang J, Mohandas N, An X, Xu X, Erythroid Krüppel-like factor mutations are relatively more common in a thalassemia endemic region and ameliorate the clinical and hematological severity of β-thalassemia., Blood , 2014 PubMed
Jiang F, Qu YX, Chen GL, Li J, Zhou JY, Zuo LD, Liao C, Li DZ, KFL1 Gene Variants in α-Thalassemia Individuals with Increased Fetal Hemoglobin in a Chinese Population., Hemoglobin, 2018 PubMed

Created on 2014-06-05 19:50:31, Last reviewed on 2019-05-13 14:06:43 (Show full history)

A/A	Date	Curator(s)	Comments
1	2014-06-05 19:50:31	The IthaGenes Curation Team	Created
2	2014-06-06 07:35:12	The IthaGenes Curation Team	Reviewed. Correction of typos.
3	2018-11-13 17:13:23	The IthaGenes Curation Team	Reviewed. Common name and HGVS name corrected. Mutation comment modified. Synonyms, protein info, dbSNP link and reference added.
4	2018-11-13 17:42:27	The IthaGenes Curation Team	Reviewed.
5	2018-11-13 17:47:05	The IthaGenes Curation Team	Reviewed.
6	2018-11-14 16:37:33	The IthaGenes Curation Team	Reviewed.
7	2018-11-14 16:46:42	The IthaGenes Curation Team	Reviewed.
8	2019-05-13 14:06:43	The IthaGenes Curation Team	Reviewed. Mutation comment edited. Synonym name corrected. Phenotype added.

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