Table 1.
Rare Variants Identified In XPR1 in the Proband and a Cohort of 86 Index Cases.
| Genomic Position |
cDNA | Protein | PolyPhen-2 Function Prediction |
SIFT Function Prediction |
MutationTaster Function Prediction |
dbSNP ID | 1KGP Frequency |
NHLBI EVS Frequency |
ExAC Allelic Frequency |
GERP |
|---|---|---|---|---|---|---|---|---|---|---|
| chr1:180756925 | c.158A>G | p.Lys53Arg | Benign | Tolerated | Disease causing | - | absent | absent | absent | 5 |
| chr1:180772707 | c.407G>A | p.Ser136Asn | Probably Damaging | Damaging | Disease causing | - | absent | absent | absent | 5.93 |
| chr1:180772719 | c.419T>C | p.Leu140Pro | Probably Damaging | Damaging | Disease causing | - | absent | absent | absent | 5.93 |
| chr1:180772734 | c.434T>C | p.Leu145Pro | Probably Damaging | Damaging | Disease causing | - | absent | absent | absent | 5.93 |
| chr1:180775665 | c.653T>C | p.Leu218Ser | Probably Damaging | Damaging | Disease causing | - | absent | absent | absent | 5.15 |
| chr1:180842993 | c.1723A>G | p.Ile575Val | Benign | Tolerated | Disease causing | rs147941113 | 0.040% | 0.054% | 83/121,330 (0.068%) |
2.09 |
1KGP: 1000 Genomes Project (http://www.1000genomes.org/)
NHLBI EVS: NIH Heart, Lung, and Blood Institute Exome Variant Server (EVS, http://evs.gs.washington.edu/EVS/)
ExAC: Exome Aggregation Consortium database, Cambridge, MA (URL: http://exac.broadinstitute.org) [accessed February 2015]
Variants in XPR1 currently explain about 5.5% in the French cohort, and 2.5% in the North American cohort. Thus, XPR1 mutations are less common than SLC20A2 and PDGFB, but more common than PDGFRB.