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
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] |
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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IthaGenes was last updated on 2022-06-24 13:54:27