Table 3.
Genotype analysis of SNPs around potential SUMO1 deletion
| Genotypec | ||||||
|---|---|---|---|---|---|---|
| rs numbera | SNP locationb |
SNP location | CHd | Fd | Md | TPe |
| rs6747814 | 202,688,963 | upstream of LOC339809 | AG | GG | AA | G |
| rs12988414 | 202,770,323 | 3−UTR of LOC339809 | CC | CC | D | |
| rs2350358 | 202,772,739 | downstream of SUMO1 | GG | GG | GG | D |
| rs6717044 | 202,778,312 | downstream of SUMO1 | TT | TC | G | |
| rs3769817 | 202,787,552 | intron 2 of SUMO1f | GG | GG | GG | D |
| rs7580433 | 202,791,910 | intron 2 of SUMO1f | GG | GG | GG | D |
| rs4675272 | 202,794,974 | intron1 of SUMO1 | GG | CC | GG | B |
| rs6742786 | 202,795,116 | intron1 of SUMO1 | GG | AA | GG | B |
| rs2350360 | 202,795,948 | intron1 of SUMO1 | TT | TT | TT | D |
| rs7599810 | 202,797,513 | intron1 of SUMO1 | AA | GG | AA | B |
| rs6755690 | 202,798,838 | intron1 of SUMO1 | GG | CC | GG | B |
| rs3754931 | 202,811,646 | upstream of SUMO1 | CC | TT | CC | B |
| rs4675274 | 202,816,113 | upstream of SUMO1 | TT | TT | TT | D |
| rs35662035 | 202,823,039 | upstream of SUMO1 | CC | TT | CC | B |
| rs10166594 | 202,823,230 | upstream of SUMO1 | TT | TT | TT | D |
| rs6435139 | 202,828,113 | upstream of SUMO1 | GG | GG | GG | D |
| rs6758247 | 202,834,698 | upstream of SUMO1 | CC | CC | CC | D |
| rs7581542 | 202,840,182 | intron 14 of NOP5/NOP58 | AA | AA | AA | D |
| rs13392645 | 202,843,084 | intron 14 of NOP5/NOP58 | AA | AA | AA | D |
| rs7572505 | 202,860,600 | intron 10 of NOP5/NOP58 | GG | GG | GG | D |
| rs3731700 | 202,864,181 | exon 8 of NOP5/NOP58 | AA | AA | AA | D |
| rs6753156 | 202,873,779 | intron 2 of NOP5/NOP58 | CC | CC | CC | D |
| rs10084427 | 202,879,917 | downstream of NOP5/NOP58 | GG | GG | GG | D |
| rs6435143 | 202,902,501 | downstream of NOP5/NOP58 | AC | CC | G | |
| rs6435146 | 202,920,474 | downstream of NOP5/NOP58 | AA | AA | AA | D |
| rs6747299 | 202,993,402 | intron 12 of BMPR2 | TT | GT | TT | G |
Shaded SNPs indicate the regions of breakpoints. The minimum size of the deletion (between rs4675272 and rs35662035) is 28,065 bp. The maximum size of the deletion (between rs6717044 and rs6435143) is 124,189 bp.
SNP location according to UCSC Genome Browser, human sequence assembly of March 2006
According to dbSNP build 128 (forward strand). Blank cells represent missing genotypes.
CH: child, F: father, M: mother.
Transmission pattern: B, Mendelian inconsistency in agreement with deletion of the paternal allele; D, Mendelian inheritance with no information on potential deletions; G, Mendelian inheritance indicating no deletion involvement. The deletion is present in the affected child and probably in his father.
SUMO1 isoform 1 = NM_001005782