Most frequent mutations causing FXI deficiency by ethnicity
| Population . | RefSeq . | Genomic position* . | Type of mutation . | cDNA level† . | Native protein . | Mature protein . | % of all mutated alleles in the analyzed population . | Notes . |
|---|---|---|---|---|---|---|---|---|
| Africans | Chr4:187 197 512 | Missense | c.723C>G | p.F241L | p.F223L | 23.5 | Found 5 times in ExAC, 4 in Africans | |
| East Asians | Chr4:187 201 251 | Nonsense | c.841C>T | p.Q281X | p.Q263X | 28.2 | Found 11 times in ExAC, only in East Asians | |
| Chr4:187 206 808 | Frameshift | c.1325delT | p.L442CfsX8 | p.L424CfsX8 | 20.5 | Found 8 times in ExAC, only in East Asians | ||
| Europeans | rs121965063 | Chr4:187 195 347 | Nonsense | c.403G>T | p.E135X | p.E117X | 35.4 | Type II mutation |
| Found 95 times in ExAC, 85 in Europeans | ||||||||
| rs121965064 | Chr4:187 201 412 | Missense | c.901T>C | p.F301L | p.F283L | 40.4 | Type III mutation | |
| Found 100 times in ExAC, 97 in Europeans | ||||||||
| Latinos | Chr4:187 205 398 | Missense | c.1288G>A | p.A430T | p.A412T | 25 | Found 8 times in ExAC, 6 in Latinos | |
| South Asians | rs121965063 | Chr4:187 195 347 | Nonsense | c.403G>T | p.E135X | p.E117X | 12.5 | Type II mutation |
| Found 95 times in ExAC, 4 in South Asians | ||||||||
| Chr4:187 201 469 | Frameshift | c.961_962delTG | p.C321HfsX37 | p.C303HfsX37 | 12.5 | Found 6 times in ExAC, 4 in South Asians |
| Population . | RefSeq . | Genomic position* . | Type of mutation . | cDNA level† . | Native protein . | Mature protein . | % of all mutated alleles in the analyzed population . | Notes . |
|---|---|---|---|---|---|---|---|---|
| Africans | Chr4:187 197 512 | Missense | c.723C>G | p.F241L | p.F223L | 23.5 | Found 5 times in ExAC, 4 in Africans | |
| East Asians | Chr4:187 201 251 | Nonsense | c.841C>T | p.Q281X | p.Q263X | 28.2 | Found 11 times in ExAC, only in East Asians | |
| Chr4:187 206 808 | Frameshift | c.1325delT | p.L442CfsX8 | p.L424CfsX8 | 20.5 | Found 8 times in ExAC, only in East Asians | ||
| Europeans | rs121965063 | Chr4:187 195 347 | Nonsense | c.403G>T | p.E135X | p.E117X | 35.4 | Type II mutation |
| Found 95 times in ExAC, 85 in Europeans | ||||||||
| rs121965064 | Chr4:187 201 412 | Missense | c.901T>C | p.F301L | p.F283L | 40.4 | Type III mutation | |
| Found 100 times in ExAC, 97 in Europeans | ||||||||
| Latinos | Chr4:187 205 398 | Missense | c.1288G>A | p.A430T | p.A412T | 25 | Found 8 times in ExAC, 6 in Latinos | |
| South Asians | rs121965063 | Chr4:187 195 347 | Nonsense | c.403G>T | p.E135X | p.E117X | 12.5 | Type II mutation |
| Found 95 times in ExAC, 4 in South Asians | ||||||||
| Chr4:187 201 469 | Frameshift | c.961_962delTG | p.C321HfsX37 | p.C303HfsX37 | 12.5 | Found 6 times in ExAC, 4 in South Asians |
The most recurrent mutations (>10% of mutated alleles) were identified in the ExAC data set among all null mutations plus missense variants previously reported as associated with FXI deficiency in public databases (see “Methods”).
Numbering according to UCSC Genome Browser, human, February 2009 (GRCh37/hg19) assembly.
Numbering starting from ATG according to NM_000128.