MYLK
myosin light chain kinase
Summary
This gene, a muscle member of the immunoglobulin gene superfamily, encodes myosin light chain kinase which is a calcium/calmodulin dependent enzyme. This kinase phosphorylates myosin regulatory light chains to facilitate myosin interaction with actin filaments to produce contractile activity. This gene encodes both smooth muscle and nonmuscle isoforms. In addition, using a separate promoter in an intron in the 3' region, it encodes telokin, a small protein identical in sequence to the C-terminus of myosin light chain kinase, that is independently expressed in smooth muscle and functions to stabilize unphosphorylated myosin filaments. A pseudogene is located on the p arm of chromosome 3. Four transcript variants that produce four isoforms of the calcium/calmodulin dependent enzyme have been identified as well as two transcripts that produce two isoforms of telokin. Additional variants have been identified but lack full length transcripts. [provided by RefSeq, Jul 2008]
Known Variants1,783 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6438804 | 3:123,331,143 | T/C | — | benign |
| rs886057838 | 3:123,331,281 | T/A | — | uncertain significance |
| rs780658640 | 3:123,331,299 | C/T | — | uncertain significance |
| rs182575175 | 3:123,331,305 | C/G | — | uncertain significance |
| rs886057839 | 3:123,331,322 | C/T | — | uncertain significance |
| rs769291281 | 3:123,331,376 | C/T | — | uncertain significance |
| rs116709353 | 3:123,331,414 | T/C | — | benign |
| rs886057840 | 3:123,331,426 | G/T | — | uncertain significance |
| rs962355860 | 3:123,331,433 | A/G | — | uncertain significance |
| rs970511770 | 3:123,331,443 | T/C | — | uncertain significance |
| rs113046889 | 3:123,331,650 | A/G | — | uncertain significance |
| rs886057841 | 3:123,331,742 | A/G | — | uncertain significance |
| rs756047939 | 3:123,331,761 | A/G | — | uncertain significance |
| rs150645157 | 3:123,331,817 | C/T | — | likely benign |
| rs539295972 | 3:123,331,818 | G/A | — | likely benign |
| rs139868162 | 3:123,331,862 | T/C | — | likely benign |
| rs185600011 | 3:123,331,882 | A/T | — | likely benign |
| rs886057842 | 3:123,331,911 | C/A | — | uncertain significance |
| rs2057289816 | 3:123,331,912 | C/T | — | uncertain significance |
| rs886057843 | 3:123,331,921 | G/T | — | uncertain significance |
| rs1381461900 | 3:123,331,971 | T/C | — | uncertain significance |
| rs886057844 | 3:123,331,992 | G/A | — | uncertain significance |
| rs112095273 | 3:123,332,007 | C/T | — | likely benign |
| rs886057846 | 3:123,332,140 | G/T | — | uncertain significance |
| rs886057847 | 3:123,332,150 | G/A | — | uncertain significance |
| rs886057848 | 3:123,332,239 | G/T | — | uncertain significance |
| rs886057849 | 3:123,332,240 | C/T | — | uncertain significance |
| rs9422 | 3:123,332,340 | G/T | — | benign |
| rs886057850 | 3:123,332,428 | G/T | — | uncertain significance |
| rs115932105 | 3:123,332,533 | G/A | — | benign |
| rs6438805 | 3:123,332,546 | C/G | — | benign |
| rs115391213 | 3:123,332,548 | C/T | — | likely benign |
| rs1233084998 | 3:123,332,563 | C/G | — | uncertain significance |
| rs565933037 | 3:123,332,618 | G/A | — | uncertain significance |
| rs886057853 | 3:123,332,694 | C/A | — | uncertain significance |
| rs886057854 | 3:123,332,700 | A/G | — | uncertain significance |
| rs886057855 | 3:123,332,706 | T/C | — | uncertain significance |
| rs115815057 | 3:123,332,739 | A/T | — | likely benign |
| rs116218482 | 3:123,332,755 | A/T | — | likely benign |
| rs560639262 | 3:123,332,857 | G/C | — | uncertain significance |
| rs528233991 | 3:123,332,879 | T/G | — | uncertain significance |
| rs2057326753 | 3:123,332,898 | T/C | — | uncertain significance |
| rs1553768506 | 3:123,332,955 | C/A | — | uncertain significance |
| rs1421911091 | 3:123,332,956 | T/C | — | uncertain significance |
| rs112548238 | 3:123,332,961 | T/C | — | likely benign |
| rs2472727165 | 3:123,332,963 | C/T | — | uncertain significance |
| rs776151609 | 3:123,332,965 | T/A | — | uncertain significance |
| rs1206293380 | 3:123,332,966 | C/A | — | uncertain significance |
| rs753024354 | 3:123,332,982 | A/C | — | likely benign |
| rs758153631 | 3:123,332,988 | C/G | — | uncertain significance |
| rs1194619668 | 3:123,332,991 | C/T | — | uncertain significance |
| rs540804249 | 3:123,332,994 | C/T | — | conflicting classifications of pathogenicity |
| rs200490629 | 3:123,332,995 | G/A | — | conflicting classifications of pathogenicity |
| rs2107807094 | 3:123,333,000 | C/T | — | likely benign |
| rs1553768575 | 3:123,333,002 | C/T | — | uncertain significance |
| rs1065022 | 3:123,333,007 | A/C | — | uncertain significance |
| rs368231398 | 3:123,333,022 | G/A | — | uncertain significance |
| rs769361741 | 3:123,333,024 | G/A | — | likely benign |
| rs1318837657 | 3:123,333,030 | T/C | — | likely benign |
| rs1352611518 | 3:123,333,033 | A/C | — | likely benign |
| rs2057335896 | 3:123,333,038 | T/C | — | uncertain significance |
| rs149339426 | 3:123,333,047 | C/T | — | uncertain significance |
| rs748955317 | 3:123,333,048 | C/T | — | likely benign |
| rs2107807767 | 3:123,333,054 | G/C | — | likely benign |
| rs1232047611 | 3:123,333,055 | G/C | — | uncertain significance |
| rs2107807830 | 3:123,333,060 | C/T | — | likely benign |
| rs772417046 | 3:123,333,066 | A/G | — | likely benign |
| rs1302750305 | 3:123,333,068 | C/A | — | uncertain significance |
| rs1176314574 | 3:123,333,069 | G/A | — | likely benign |
| rs368993888 | 3:123,333,072 | A/C | — | uncertain significance |
| rs2472731390 | 3:123,333,074 | C/T | — | uncertain significance |
| rs532767014 | 3:123,333,077 | C/T | — | uncertain significance |
| rs766761036 | 3:123,333,078 | G/A | — | likely benign |
| rs777340868 | 3:123,333,081 | A/C | — | likely benign |
| rs1327634397 | 3:123,333,084 | A/G | — | likely benign |
| rs759672855 | 3:123,333,088 | C/A | — | uncertain significance |
| rs552874701 | 3:123,333,092 | T/C | — | uncertain significance |
| rs1375537920 | 3:123,333,100 | G/A | — | uncertain significance |
| rs763114117 | 3:123,333,108 | C/T | — | likely benign |
| rs1559957355 | 3:123,333,110 | C/T | — | uncertain significance |
| rs563208285 | 3:123,333,111 | G/A | — | likely benign |
| rs757115211 | 3:123,333,119 | C/T | — | uncertain significance |
| rs1177166653 | 3:123,333,120 | G/A | — | likely benign |
| rs1235715327 | 3:123,333,125 | C/A | — | uncertain significance |
| rs2472733026 | 3:123,333,130 | T/C | — | uncertain significance |
| rs199880151 | 3:123,333,135 | G/A | — | likely benign |
| rs375758782 | 3:123,333,139 | C/T | — | uncertain significance |
| rs138364346 | 3:123,333,140 | G/A | — | uncertain significance |
| rs1199729710 | 3:123,333,150 | G/A | — | likely benign |
| rs1177273925 | 3:123,333,152 | T/C | — | uncertain significance |
| rs748934365 | 3:123,333,162 | A/C | — | uncertain significance |
| rs1559957766 | 3:123,333,168 | G/T | — | uncertain significance |
| rs2472734523 | 3:123,333,174 | G/A | — | likely benign |
| rs768219999 | 3:123,333,178 | A/G | — | uncertain significance |
| rs369358803 | 3:123,333,182 | C/T | — | uncertain significance |
| rs147536036 | 3:123,333,183 | G/A | — | likely benign |
| rs2472734953 | 3:123,333,184 | G/A | — | uncertain significance |
| rs918643720 | 3:123,333,187 | T/G | — | uncertain significance |
| rs2472735503 | 3:123,333,196 | C/G | — | uncertain significance |
| rs747326867 | 3:123,333,199 | G/A | — | likely benign |
Showing 100 of 1,783 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.