Table 2.
Haplotype analysis of 12q markers in patients with Arg232Cys and Arg269Cys mutations in TRPV4
|
Arg232Cys |
Arg269Cys |
||||
|---|---|---|---|---|---|
| Patient Marker | CMT-455.01 | CMT-456.01 | CMT-1100.01 | CMT-858.09 | F1.IV.4 |
| D12S105 | 143 | 147 | 145 | 145 | 143 |
| D12S1583 | 237 | 225 | 237 | 221 | 239 |
| D121645 | 212 | 216 | 212 | 218 | 212 |
| rs3742032 (T/C) | C | T | C | C | T |
| rs3825394 (A/C) | C | A | C | C | A |
| D12S1343 | 206 | 206 | 206 | 206 | 208 |
| D12S1344 | 239 | 235 | 239 | 239 | 227 |
The alleles of the short tandem repeats are sized in base pairs. The position of the markers is according to the reference assembly of NCBI genome build 36.3.