IthaID: 3138
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 323 TCG>TTG [Ser>Leu] | HGVS Name: | NG_013087.1:g.7198C>T |
Context nucleotide sequence:
GCTGCGGCTGGAGATTCGCGCGCT [C/T] GGACGAGCTGACCCGCCACTACCGG (Strand: -)
Protein sequence:
MATAETALPSISTLTALGPFPDTQDDFLKWWRSEEAQDMGPGPPDPTEPPLHVKSEDQPGEEEDDERGADATWDLDLLLTNFSGPEPGGAPQTCALAPSEASGAQYPPPPETLGAYAGGPGLVAGLLGSEDHSGWVRPALRARAPDAFVGPALAPAPAPEPKALALQPVYPGPGAGSSGGYFPRTGLSVPAASGAPYGLLSGYPAMYPAPQYQGHFQLFRGLQGPAPGPATSPSFLSCLGPGTVGTGLGGTAEDPGVIAETAPSKRGRRSWARKRQAAHTCAHPGCGKSYTKSSHLKAHLRTHTGEKPYACTWEGCGWRFARLDELTRHYRKHTGQRPFRCQLCPRAFSRSDHLALHMKRHL
Also known as: p.Ser323Leu
Comments: Identified in a heterozygous state in two siblings homozygous for the β+ IVS I-110 G>A [ithaID=113] with elevated HbF levels (63% and 66.2% HbF) and an overall good health. Located in the second zinc finger of KLF1 and predicted to have a deleterious effect on protein function.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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] |
Location
| Chromosome: | 19 |
|---|---|
| Locus: | NG_013087.1 |
| Locus Location: | 7198 |
| Size: | 1 bp |
| Located at: | KLF1 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Cypriot |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
Publications / Origin
- Fanis P, Kousiappa I, Phylactides M, Kyrri A, Hadjigavriel M, Christou S, Sitarou M, Kleanthous M, A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β-thalassemia major., Hum Mutat, 40(10), 1768-1780, 2019 PubMed
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Fanis, Pavlos | 2016-12-20 | First report. |
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-12-20 14:26:33 | The IthaGenes Curation Team | Created |
| 2 | 2016-12-20 14:30:36 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2021-02-24 12:35:42 | The IthaGenes Curation Team | Reviewed. DNA info, Comment, Reference and dbSNP link added. |
| 4 | 2021-02-24 12:39:45 | The IthaGenes Curation Team | Reviewed. Protein info added. |