Mutations predicted as dangerous by 7 of 7 prediction programs
| RefSeq . | Genomic position* . | cDNA level† . | Native protein . | Mature protein . |
|---|---|---|---|---|
| Chr4:187 192 766 | c.59G>C | p.C20S | p.C2S | |
| Chr4:187 192 805 | c.98G>A | p.G33E | p.G15E | |
| Chr4:187 192 867 | c.160C>T | p.P54S | p.P36S | |
| Chr4:187 194 248 | c.242G>T | p.S81I | p.S63I | |
| Chr4:187 194 287 | c.281C>T | p.A94V | p.A76V | |
| Chr4:187 194 313 | c.307T>C | p.C103R | p.C85R | |
| Chr4:187 195 366 | c.422C>A | p.T141K | p.T123K | |
| Chr4:187 195 380 | c.436T>C | p.C146R | p.C128R | |
| Chr4:187 195 398 | c.454G>A | p.A152T | p.A134T | |
| rs142929551 | Chr4:187 195 410 | c.466T>C | p.F156L | p.F138L |
| Chr4:187 197 005 | c.550G>A | p.V184M | p.V166M | |
| Chr4:187 197 481 | c.692C>G | p.T231S | p.T213S | |
| Chr4:187 197 510 | c.721T>G | p.F241V | p.F223V | |
| Chr4:187 201 167 | c.757A>T | p.N253Y | p.N235Y | |
| Chr4:187 201 428 | c.917T>A | p.L306Q | p.L288Q | |
| Chr4:187 201 500 | c.989T>G | p.F330C | p.F312C | |
| Chr4:187 201 650 | c.1051T>C | p.S351P | p.S333P | |
| Chr4:187 205 249 | c.1139G>A | p.C380Y | p.C362Y | |
| rs149689934 | Chr4:187 205 316 | c.1206G>T | p.Q402H | p.Q384H |
| rs121965071 | Chr4:187 205 363 | c.1253G>A | p.G418D | p.G400D |
| Chr4:187 205 369 | c.1259T>C | p.I420T | p.I402T | |
| Chr4:187 206 931 | c.1444G>A | p.A482T | p.A464T | |
| Chr4:187 206 932 | c.1445C>T | p.A482V | p.A464V | |
| Chr4:187 207 630 | c.1542C>G | p.C514W | p.C496W | |
| Chr4:187 207 641 | c.1553G>A | p.G518E | p.G500E | |
| rs139695003 | Chr4:187 208 874 | c.1613C>A | p.P538H | p.P520H |
| Chr4:187 208 906 | c.1645T>C | p.Y549H | p.Y531H | |
| Chr4:187 208 907 | c.1646A>G | p.Y549C | p.Y531C | |
| Chr4:187 208 973 | c.1712G>C | p.C571S | p.C553S | |
| Chr4:187 209 610 | c.1720G>T | p.D574Y | p.D556Y | |
| rs149873248 | Chr4:187 209 617 | c.1727G>A | p.G576E | p.G558E |
| Chr4:187 209 673 | c.1783T>A | p.W595R | p.W577R | |
| Chr4:187 209 677 | c.1787G>A | p.G596D | p.G578D |
| RefSeq . | Genomic position* . | cDNA level† . | Native protein . | Mature protein . |
|---|---|---|---|---|
| Chr4:187 192 766 | c.59G>C | p.C20S | p.C2S | |
| Chr4:187 192 805 | c.98G>A | p.G33E | p.G15E | |
| Chr4:187 192 867 | c.160C>T | p.P54S | p.P36S | |
| Chr4:187 194 248 | c.242G>T | p.S81I | p.S63I | |
| Chr4:187 194 287 | c.281C>T | p.A94V | p.A76V | |
| Chr4:187 194 313 | c.307T>C | p.C103R | p.C85R | |
| Chr4:187 195 366 | c.422C>A | p.T141K | p.T123K | |
| Chr4:187 195 380 | c.436T>C | p.C146R | p.C128R | |
| Chr4:187 195 398 | c.454G>A | p.A152T | p.A134T | |
| rs142929551 | Chr4:187 195 410 | c.466T>C | p.F156L | p.F138L |
| Chr4:187 197 005 | c.550G>A | p.V184M | p.V166M | |
| Chr4:187 197 481 | c.692C>G | p.T231S | p.T213S | |
| Chr4:187 197 510 | c.721T>G | p.F241V | p.F223V | |
| Chr4:187 201 167 | c.757A>T | p.N253Y | p.N235Y | |
| Chr4:187 201 428 | c.917T>A | p.L306Q | p.L288Q | |
| Chr4:187 201 500 | c.989T>G | p.F330C | p.F312C | |
| Chr4:187 201 650 | c.1051T>C | p.S351P | p.S333P | |
| Chr4:187 205 249 | c.1139G>A | p.C380Y | p.C362Y | |
| rs149689934 | Chr4:187 205 316 | c.1206G>T | p.Q402H | p.Q384H |
| rs121965071 | Chr4:187 205 363 | c.1253G>A | p.G418D | p.G400D |
| Chr4:187 205 369 | c.1259T>C | p.I420T | p.I402T | |
| Chr4:187 206 931 | c.1444G>A | p.A482T | p.A464T | |
| Chr4:187 206 932 | c.1445C>T | p.A482V | p.A464V | |
| Chr4:187 207 630 | c.1542C>G | p.C514W | p.C496W | |
| Chr4:187 207 641 | c.1553G>A | p.G518E | p.G500E | |
| rs139695003 | Chr4:187 208 874 | c.1613C>A | p.P538H | p.P520H |
| Chr4:187 208 906 | c.1645T>C | p.Y549H | p.Y531H | |
| Chr4:187 208 907 | c.1646A>G | p.Y549C | p.Y531C | |
| Chr4:187 208 973 | c.1712G>C | p.C571S | p.C553S | |
| Chr4:187 209 610 | c.1720G>T | p.D574Y | p.D556Y | |
| rs149873248 | Chr4:187 209 617 | c.1727G>A | p.G576E | p.G558E |
| Chr4:187 209 673 | c.1783T>A | p.W595R | p.W577R | |
| Chr4:187 209 677 | c.1787G>A | p.G596D | p.G578D |
These 33 missense defects, which appear in the ExAC data set in at least 1 individual, were predicted to be deleterious by 7 of 7 prediction software (see “Methods”), and are not annotated in any FXI-related public repository.
cDNA, complementary DNA.
Numbering according to University of California Santa Cruz (UCSC) Genome Browser, human, February 2009 (GRCh37/hg19) assembly.
Numbering starting from ATG according to NM_000128.