IthaID: 2081
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 328 (CGC>CTC) | HGVS Name: | NG_013087.1:g.7213G>T |
Context nucleotide sequence:
TTCGCGCGCTCGGACGAGCTGACCC [G/T] CCACTACCGGAAACACACGGGGCAG (Strand: -)
Also known as:
Comments: Protein change: R328L, Dominant Lu (a-b-) Phenotype
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available 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: | 7213 |
| 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: | Slovakian |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Singleton BK, Burton NM, Green C, Brady RL, Anstee DJ, Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype., Blood , 112(5), 2081-8, 2008
- Singleton BK, Lau W, Fairweather VS, Burton NM, Wilson MC, Parsons SF, Richardson BM, Trakarnsanga K, Brady RL, Anstee DJ, Frayne J, Mutations in the second zinc finger of human EKLF reduce promoter affinity but give rise to benign and disease phenotypes., Blood , 118(11), 3137-45, 2011
- 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
Created on 2013-06-28 13:07:50,
Last reviewed on 2014-03-18 12:01:12 (Show full history)
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