Official Journal of the Human Genome Organisation
Table 2 List of nsSNPs that were predicted to be of functional significance by PupaSuite
From: A novel computational and structural analysis of nsSNPs in CFTR gene
SNPs ID | Alleles | Region | Functional significance |
|---|---|---|---|
rs1800072 | A/G | Coding nonsynonymous | Cellular processing |
rs35516286 | C/T | Coding nonsynonymous | Cellular processing |
rs1800080 | A/G | Coding nonsynonymous | Cellular processing |
rs34911792 | G/T | Coding nonsynonymous | Cellular processing |
rs1800092 | A/C/G | Coding nonsynonymous | Prot.structure and dynamics |
Functional Sites | |||
rs1800093 | G/T | Coding nonsynonymous | Prot.structure and dynamics |
rs35813506 | A/G | Coding nonsynonymous | Prot.structure and dynamics |
rs1801178 | C/T | Coding nonsynonymous | Prot.structure and dynamics |
rs11531593 | A/C | Coding nonsynonymous | Prot.structure and dynamics |
rs1800112 | C/T | Coding nonsynonymous | Functional Sites |
rs766874 | A/G | Coding nonsynonymous | Cellular processing |
Functional Sites | |||
Exonic splicing enhancers | |||
rs1800073 | C/T | Coding nonsynonymous | Exonic splicing enhancers |
rs1800074 | A/T | Coding nonsynonymous | Exonic splicing enhancers |
rs1800078 | C/T | Coding nonsynonymous | Exonic splicing enhancers |
rs1800079 | A/G | Coding nonsynonymous | Exonic splicing enhancers |
rs1800086 | C/G | Coding nonsynonymous | Exonic splicing enhancers |
rs35032490 | A/G | Coding nonsynonymous | Exonic splicing enhancers |
rs1800097 | A/G | Coding nonsynonymous | Exonic splicing enhancers |
rs1800100 | C/T | Coding nonsynonymous | Exonic splicing enhancers |
rs1800103 | A/G | Coding nonsynonymous | Exonic splicing enhancers |
rs1800107 | G/T | Coding nonsynonymous | Exonic splicing enhancers |
rs1800110 | C/T | Coding nonsynonymous | Exonic splicing enhancers |
rs1800120 | G/T | Coding nonsynonymous | Exonic splicing enhancers |
rs1800123 | C/T | Coding nonsynonymous | Exonic splicing enhancers |
rs11971167 | A/G | Coding nonsynonymous | Exonic splicing enhancers |
rs4148725 | C/T | Coding nonsynonymous | Exonic splicing enhancers |
s1800501 | C/G | mRNA | Exonic splicing enhancers |
rs1042166 | A/T | mRNA | Exonic splicing enhancers |
rs1800501 | C/G | mRNA | Exonic splicing enhancers |
rs1800080 | A/G | Coding nonsynonymous | Cellular processing |
Exonic splicing silencers | |||
rs1800099 | A/G | Coding nonsynonymous | Exonic splicing silencers |
rs1800101 | C/T | Coding nonsynonymous | Exonic splicing silencers |