IthaID: 2077
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 301 CGC>TGC [Arg>Cys] | HGVS Name: | NG_013087.1:g.6875C>T |
Context nucleotide sequence:
GAGCTCCCACCTGAAGGCGCATCTG [C/T] GCACGCACACAGGTGAGGGGGCGGG (Strand: -)
Protein sequence:
MATAETALPSISTLTALGPFPDTQDDFLKWWRSEEAQDMGPGPPDPTEPPLHVKSEDQPGEEEDDERGADATWDLDLLLTNFSGPEPGGAPQTCALAPSEASGAQYPPPPETLGAYAGGPGLVAGLLGSEDHSGWVRPALRARAPDAFVGPALAPAPAPEPKALALQPVYPGPGAGSSGGYFPRTGLSVPAASGAPYGLLSGYPAMYPAPQYQGHFQLFRGLQGPAPGPATSPSFLSCLGPGTVGTGLGGTAEDPGVIAETAPSKRGRRSWARKRQAAHTCAHPGCGKSYTKSSHLKAHLCTHTGEKPYACTWEGCGWRFARSDELTRHYRKHTGQRPFRCQLCPRAFSRSDHLALHMKRHL
Also known as: p.R301C
Comments: Detected in the heterozygous state in association with HPFH phenotype (14.6% HbF, 2.4% HbA2) in a Pakistani person. Detected in the homozygous state in an Indian male with 72.3% HbF and 0.5% HbA2, resulting in a mild thalassaemia intermedia phenotype. Arg301 lies in the helix of zinc finger domain 1 and the Arg>Cys change is predicted to be pathogenic.
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: | 6875 |
| Size: | 1 bp |
| Located at: | KLF1 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Pakistani | Indian |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Gallienne AE, Dréau HM, Schuh A, Old JM, Henderson S, Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults., Haematologica , 97(3), 340-3, 2012
- Rani N, Jamwal M, Kaur J, Sharma P, Malhotra P, Maitra A, Singh R, Das R, Homozygous KLF1 mutation c.901C>T (p.Arg301Cys) resulting in mild thalassemia intermedia in an Indian: A next-generation sequencing diagnosis., Blood Cells Mol. Dis. , 2018