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
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] Hb levels [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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IthaGenes was last updated on 2018-11-20 19:42:10