Table 1.
SNP | Exon no. | Position* | Nucleotide change† |
Amino acid change |
PolyPhen prediction‡ |
Minor allele frequency (%) |
||||
---|---|---|---|---|---|---|---|---|---|---|
African Americans |
Native Hawaiians |
Japanese Americans |
Latinos | Whites | ||||||
rs8191746 | 5 | 160365688 | C>T | Pro203Leu | Probably damaging |
2.1 | 0 | 0 | 0 | 0 |
rs8191754 | 6 | 160368314 | C>G | Leu252Val | Benign | 12.1 | 18.4 | 31.6 | 6.4 | 14.5 |
rs6413491 | 16 | 160388299 | G>A | Ala724Thr | Benign | 3.9 | 0 | 0 | 0.8 | 0.8 |
IGF2R_C722T§ | 17 | 160388898 | C>T | Pro772Leu | Probably damaging |
2.9 | 0 | 0 | 0.70 | 0 |
rs8191808 | 18 | 160389500 | G>C | Val817Leu | Benign | 0 | 0 | 0.7 | 0.7 | 0.7 |
rs8191844 | 25 | 160402919 | C>G | Thr1184Ser | Possibly damaging |
3.6 | 0 | 0 | 0 | 0 |
IGF2R_C1194T§ | 25 | 160402949 | C>T | Ser1194Leu | Benign | 0 | 2.2 | 0 | 0 | 0 |
rs8191859 | 28 | 160405480 | G>A | Gly1315Glu | Possibly damaging |
0 | 0 | 8.0 | 0 | 0 |
rs629849 | 34 | 160414399 | G>A | Gly1619Arg | Benign | 2.9 | 11.0 | 9.4 | 6.5 | 10.7 |
IGF2R_C1822T§ | 37 | 160419371 | C>T | Thr1822Met | — | 3.6 | 0 | 0 | 1.43 | 0 |
rs8191904 | 38 | 160420618 | G>A | Arg1832His | Benign | 4.8 | 0 | 0 | 0 | 0.91 |
rs8191955 | 48 | 160446006 | C>T | Ala2459Val | Benign | 0 | 2.9 | 0.7 | 0 | 0.7 |
SNP position based on dbSNP reference assembly (Build 36.3).
Minor allele based on all groups combined.
PolyPhen: http://genetics.bwh.harvard.edu/pph/.
Novel missense SNP identified by sequencing.