Q13496
PR
Gene name |
MTM1 |
Protein name |
Myotubularin |
Names |
Phosphatidylinositol-3,5-bisphosphate 3-phosphatase, Phosphatidylinositol-3-phosphate phosphatase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4534 |
EC number |
3.1.3.64: Phosphoric monoester hydrolases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q13496
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q13496-F1 | Predicted | AlphaFoldDB |
434 variants for Q13496
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000146448 rs587783823 |
1 | M>I | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000146442 rs587783817 |
1 | M>R | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1603118990 RCV000800620 CA415248255 |
2 | A>V | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000931670 CA415248482 rs1408923946 |
19 | I>L | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA10539034 RCV000700367 rs781886721 |
22 | T>M | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
COSM1116778 RCV000790686 RCV000264401 CA220544 rs398123275 |
24 | R>* | Variant assessed as Somatic; impact. endometrium Severe X-linked myotubular myopathy [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000815856 rs1603124011 |
26 | G>missing | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587783857 CA271941 RCV000146484 |
29 | R>* | Variant assessed as Somatic; impact. Severe X-linked myotubular myopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs2038978870 RCV001264141 |
33 | E>* | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs797045724 RCV000194336 |
33 | E>* | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA271728 RCV000146374 RCV000579109 rs587783753 |
37 | R>* | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2038979352 RCV001210021 |
39 | P>missing | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000194745 rs797045714 |
44 | I>missing | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_006386 RCV000146410 rs587783788 |
47 | K>missing | CNMX Severe X-linked myotubular myopathy [UniProt, ClinVar] | Yes |
ClinVar UniProt dbSNP |
|
VAR_006386 rs587783788 |
47 | K>del | CNMX [UniProt] | Yes |
UniProt dbSNP |
|
CA271829 rs587783796 RCV000146419 VAR_018227 |
49 | V>F | Severe X-linked myotubular myopathy CNMX; greatly reduced binding to PI(3,5)P2; abolishes interaction with MTMR12; does not translocate to the late endosome following EGF stimulation; shows normal EGFR degradation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA271826 RCV000146418 rs587783796 |
49 | V>I | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000146428 rs587783804 |
52 | I>missing | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000146427 rs587783803 |
52 | I>missing | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs782217375 CA10539056 RCV000905685 |
59 | I>T | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10539055 rs782451760 RCV001214396 |
59 | I>V | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_018228 | 68 | Y>D | CNMX [UniProt] | Yes | UniProt |
|
rs132630304 VAR_006387 CA255665 RCV000011804 |
69 | R>C | Severe X-linked myotubular myopathy CNMX; mild; reduced response to PI5P and reduced binding to PI(3,5)P2; abolishes interaction with MTMR12 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000146433 CA271850 rs132630304 |
69 | R>G | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_018229 | 69 | R>P | CNMX [UniProt] | Yes | UniProt |
| VAR_018230 | 69 | R>S | CNMX; severe [UniProt] | Yes | UniProt |
|
RCV000146434 VAR_006388 rs587783809 CA271853 |
70 | L>F | Severe X-linked myotubular myopathy CNMX; mild; reduced binding to PI(3,5)P2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1057516031 CA10654772 RCV000408634 |
76 | E>* | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000939442 rs782640338 COSM1116781 CA10539059 |
77 | T>M | Variant assessed as Somatic; 6.287e-05 impact. endometrium Severe X-linked myotubular myopathy [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs782215492 CA337090989 RCV000821584 |
78 | D>V | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP |
|
RCV000146440 rs587783815 |
84 | D>missing | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587783816 CA271861 VAR_006389 RCV000146441 |
87 | L>P | Severe X-linked myotubular myopathy CNMX; mild; reduced binding to PI(3,5)P2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA271866 RCV000146443 rs587783818 |
101 | S>G | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587783819 RCV000146444 CA271869 |
114 | K>* | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2039434309 RCV001264142 |
130 | R>* | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000146447 rs587783822 |
133 | M>missing | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001064329 rs2039434563 |
133 | M>V | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000146450 rs587783825 CA271879 |
140 | Y>* | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA277055 RCV000192943 rs797045718 |
140 | Y>* | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1557413215 RCV001306172 |
141 | A>P | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000194154 RCV000552763 CA208132 rs140642341 RCV002517954 |
141 | A>V | Inborn genetic diseases Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs587783826 RCV000146451 |
144 | L>missing | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001044222 rs964287315 CA337091208 |
147 | S>G | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000146452 rs587783827 |
157 | E>missing | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs132630307 VAR_018231 RCV000011811 CA255676 |
157 | E>K | Severe X-linked myotubular myopathy CNMX [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs782744530 CA10539119 RCV000693657 RCV002291287 |
161 | V>M | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001264143 rs2039802744 |
163 | G>* | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1603184989 RCV000990967 |
164 | W>missing | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2039803495 RCV001221821 |
172 | E>missing | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587783828 CA271884 RCV000146453 |
172 | E>* | Variant assessed as Somatic; impact. Severe X-linked myotubular myopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000146454 CA271887 rs587783829 |
176 | Q>K | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000804374 CA415255924 rs1603187659 |
177 | G>V | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_009217 CA271892 RCV000146457 rs587783832 |
179 | P>S | Severe X-linked myotubular myopathy CNMX; mild [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs587783832 RCV001327875 |
179 | P>T | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587783833 RCV000146458 |
180 | N>missing | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_018232 | 180 | N>K | CNMX; very mild [UniProt] | Yes | UniProt |
|
rs1603187692 CA415255974 RCV000821382 |
181 | H>Q | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000146459 CA271895 rs587783834 |
183 | W>* | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs797045719 RCV000195004 |
184 | R>missing | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000146460 rs587783835 CA271898 VAR_006390 |
184 | R>G | Severe X-linked myotubular myopathy CNMX; severe; loss of activity; abolishes interaction with DES and MTMR12 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_018233 | 184 | R>L | CNMX [UniProt] | Yes | UniProt |
|
RCV000146461 rs587783836 CA271900 VAR_018234 |
186 | T>I | Severe X-linked myotubular myopathy CNMX [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_006391 rs132630302 RCV000011802 CA255661 |
189 | N>S | Severe X-linked myotubular myopathy CNMX [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA271902 rs587783838 RCV000146463 |
192 | Y>C | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_018235 | 197 | T>I | CNMX [UniProt] | Yes | UniProt |
|
RCV000146464 rs587783839 |
198 | Y>missing | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001196503 rs2039845128 |
198 | Y>H | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_006392 | 198 | Y>N | CNMX; severe [UniProt] | Yes | UniProt |
|
rs1569565497 CA415256094 RCV000781957 |
198 | Y>S | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_018236 | 199 | P>S | CNMX [UniProt] | Yes | UniProt |
|
rs672601325 RCV000011810 |
202 | L>missing | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_018237 | 202 | L>S | CNMX; severe [UniProt] | Yes | UniProt |
|
rs587783840 RCV000146465 CA271906 |
204 | V>G | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000146466 rs587783841 VAR_006393 CA271909 RCV001564887 |
205 | P>L | Variant assessed as Somatic; impact. Severe X-linked myotubular myopathy CNMX; severe; dramatic decrease in phosphatase activity; abolishes interaction with DES and MTMR12 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs187357952 RCV000973856 CA10539135 COSM1215674 |
207 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine Severe X-linked myotubular myopathy [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001056079 rs2039846270 |
209 | S>missing | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587783842 RCV000146467 CA271911 |
210 | D>G | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000146470 CA271916 rs587783845 |
213 | L>F | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587783847 RCV000146473 CA271920 |
222 | R>* | Variant assessed as Somatic; impact. Severe X-linked myotubular myopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000011809 COSM422201 CA255672 rs132630306 |
224 | R>* | Variant assessed as Somatic; impact. urinary_tract endometrium Severe X-linked myotubular myopathy [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
| VAR_009218 | 225 | I>T | CNMX; mild [UniProt] | Yes | UniProt |
|
VAR_018238 CA271923 rs587783848 RCV000146474 |
226 | P>T | Severe X-linked myotubular myopathy CNMX [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA271926 RCV000146476 VAR_018239 rs587783850 |
227 | V>M | Severe X-linked myotubular myopathy CNMX [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA271928 rs587783851 VAR_018240 RCV000146477 |
228 | L>P | Severe X-linked myotubular myopathy CNMX [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_006394 | 229 | S>P | CNMX; mild [UniProt] | Yes | UniProt |
| VAR_018241 | 230 | W>C | CNMX [UniProt] | Yes | UniProt |
|
RCV000146479 rs398123274 RCV000078436 CA220541 |
230 | W>R | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_018242 | 232 | H>R | CNMX [UniProt] | Yes | UniProt |
|
RCV000659181 CA10539150 rs372053838 RCV001419343 |
234 | E>Q | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000725013 RCV000011808 rs132630305 CA255670 VAR_006395 |
241 | R>C | Variant assessed as Somatic; impact. Severe X-linked myotubular myopathy CNMX; mild to moderate; abolishes interaction with DES, but not with MTMR12; reduces MTMR12 protein levels in myotubes [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
| VAR_006396 | 241 | R>L | CNMX; severe; loss of activity [UniProt] | Yes | UniProt |
|
RCV001042735 rs2039919583 |
243 | S>N | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001244848 rs2039919698 |
244 | Q>* | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA415256409 RCV000529682 rs1557413958 |
245 | P>L | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10539155 RCV001404629 RCV000482318 rs368335697 |
248 | G>S | Variant assessed as Somatic; 0.0 impact. Severe X-linked myotubular myopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs587783853 RCV000146480 CA271930 |
248 | G>V | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA271933 RCV000578589 rs587783854 RCV000146481 |
253 | R>* | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587783855 CA271936 RCV000146482 |
260 | Y>S | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs782573475 RCV001247857 CA10539164 |
263 | V>G | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_009219 RCV000146483 rs587783856 CA271939 |
264 | I>S | Severe X-linked myotubular myopathy CNMX; severe [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2039921355 RCV001264263 |
269 | K>* | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000193231 rs797045720 |
270 | Q>missing | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_018243 | 279 | A>G | CNMX [UniProt] | Yes | UniProt |
|
rs2039922261 RCV001264264 |
280 | R>* | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_009220 | 294 | G>del | CNMX; mild [UniProt] | Yes | UniProt |
|
RCV000146486 rs587783859 |
296 | E>* | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs781871854 RCV001222131 CA10539184 |
304 | A>V | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000146487 rs587783860 |
305 | E>missing | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002514821 RCV000146488 CA172607 COSM1215675 rs587783861 |
305 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine Severe X-linked myotubular myopathy [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000146489 rs587783862 |
308 | F>missing | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001323625 CA10539188 rs782444216 |
311 | I>V | Variant assessed as Somatic; 0.0 impact. Severe X-linked myotubular myopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000195241 rs797045722 |
317 | M>missing | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_006397 | 317 | M>R | CNMX; mild [UniProt] | Yes | UniProt |
|
rs2039989751 RCV001228323 |
318 | R>W | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA271950 rs587783863 RCV000146490 |
320 | S>P | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000146491 rs587783864 |
321 | L>missing | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001311408 RCV000146492 rs587783865 |
323 | K>* | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002503755 rs587783865 RCV000193112 |
324 | V>missing | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000192362 rs797045709 |
339 | S>missing | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs781939560 RCV001264265 CA10539195 |
346 | W>* | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
| VAR_018244 | 346 | W>C | CNMX; mild [UniProt] | Yes | UniProt |
|
CA271723 RCV000146371 rs587783750 |
346 | W>R | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_018245 | 346 | W>S | CNMX [UniProt] | Yes | UniProt |
|
CA220524 rs398123264 RCV002514377 RCV000368501 |
347 | L>* | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001079479 rs150430628 CA10539196 RCV000594938 |
351 | K>R | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000146373 rs587783752 RCV000724985 |
363 | K>missing | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000193627 RCV000583249 rs587783752 |
364 | V>missing | Centronuclear myopathy Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_018246 | 364 | V>G | CNMX [UniProt] | Yes | UniProt |
|
CA271731 VAR_018247 RCV000146375 rs587783754 |
374 | H>D | Severe X-linked myotubular myopathy CNMX [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_006398 | 376 | S>N | CNMX; dramatic decrease in phosphatase activity [UniProt] | Yes | UniProt |
|
RCV001264266 rs587783755 |
378 | G>* | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_018248 | 378 | G>E | CNMX [UniProt] | Yes | UniProt |
|
VAR_006399 RCV001266066 CA271733 RCV000146376 rs587783755 |
378 | G>R | Inborn genetic diseases Severe X-linked myotubular myopathy CNMX; severe; dramatic decrease in phosphatase activity; does not affect EGFR degradation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001329126 rs2040150416 |
378 | G>V | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA271738 rs587783757 RCV000146378 |
379 | W>* | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000146377 rs587783756 CA271735 |
379 | W>* | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA271739 rs587783758 RCV000146379 |
380 | D>V | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587783759 RCV000146380 CA271742 VAR_068846 |
387 | S>Y | Severe X-linked myotubular myopathy CNMX [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_018249 | 389 | A>D | CNMX; severe [UniProt] | Yes | UniProt |
| VAR_018250 | 391 | L>P | CNMX [UniProt] | Yes | UniProt |
|
rs1557414513 RCV000499983 |
393 | L>missing | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587783760 CA271744 RCV000146381 |
394 | D>H | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2040151430 RCV001051781 |
395 | S>N | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587783761 RCV000146382 CA271747 |
397 | Y>* | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA255663 rs132630303 VAR_006400 RCV000011803 |
397 | Y>C | Severe X-linked myotubular myopathy CNMX; severe; dramatic decrease in phosphatase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2040152185 RCV001264267 |
401 | E>* | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000146383 VAR_006401 rs587783762 CA271750 |
402 | G>A | Severe X-linked myotubular myopathy CNMX; mild [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1569565525 VAR_018251 CA415258747 RCV000700810 |
402 | G>R | Severe X-linked myotubular myopathy CNMX [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_018252 | 402 | G>V | CNMX [UniProt] | Yes | UniProt |
|
RCV001044086 rs2040152678 |
404 | E>D | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1162631 VAR_006402 RCV000636898 rs781933660 CA10539219 RCV002529856 |
404 | E>K | pancreas Variant assessed as Somatic; impact. Qualitative or quantitative defects of myotubularin Severe X-linked myotubular myopathy CNMX; mild [Cosmic, NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA dbSNP |
|
COSM131438 RCV000902548 CA10539220 rs373788741 |
405 | I>V | liver Severe X-linked myotubular myopathy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_006403 | 406 | L>P | CNMX; severe [UniProt] | Yes | UniProt |
|
CA415258838 rs1569565526 RCV000781955 |
409 | K>E | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA271752 rs587783763 RCV000146384 |
411 | W>* | Variant assessed as Somatic; impact. Severe X-linked myotubular myopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
VAR_018253 CA271755 rs587783764 RCV000146385 |
411 | W>C | Severe X-linked myotubular myopathy CNMX [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs587783765 CA271757 RCV000146386 |
412 | I>V | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001582610 rs587783766 RCV000146387 CA271760 |
415 | G>E | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_009221 | 420 | S>SFIQ | CNMX; severe [UniProt] | Yes | UniProt |
|
rs587783771 RCV000724986 CA271766 RCV000146392 |
421 | R>* | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA415259100 rs587783772 RCV000735401 RCV003156130 RCV001816810 |
421 | R>L | Polyhydramnios [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587783772 RCV001257576 CA271769 RCV000146393 RCV000428593 COSM1116794 VAR_006404 |
421 | R>Q | Variant assessed as Somatic; impact. endometrium Spastic paraplegia Severe X-linked myotubular myopathy CNMX; severe; reduced activity and response to PI5P; does not affect interaction with DES or MTMR12 [NCI-TCGA, Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
| VAR_006405 | 421 | R>RFIQ | CNMX; severe [UniProt] | Yes | UniProt |
|
RCV000146394 rs587783773 |
428 | N>missing | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs797045712 RCV000192715 |
428 | N>missing | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000304588 RCV000490085 VAR_006406 rs886044782 CA10604009 |
431 | D>N | Variant assessed as Somatic; impact. CNMX [NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000724987 CA10604010 RCV000354503 rs886044783 VAR_006407 |
433 | D>N | CNMX [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA10539232 rs782664128 RCV001060844 |
434 | R>C | Variant assessed as Somatic; 6.247e-05 impact. Severe X-linked myotubular myopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP |
|
rs587783775 RCV000146396 |
436 | P>missing | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587783774 RCV000146395 CA271772 |
436 | P>L | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000193932 rs797045713 |
436 | P>missing | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA271776 RCV000146397 rs587783776 |
442 | I>N | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587783777 CA271779 RCV000146398 |
443 | D>A | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_018254 | 444 | C>Y | CNMX [UniProt] | Yes | UniProt |
|
rs587783778 CA271782 RCV000146399 |
446 | W>* | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587783783 CA271791 RCV000146404 |
456 | F>S | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587783785 RCV000146406 CA271795 |
459 | N>I | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000920576 RCV002540970 CA10539254 RCV001595056 rs587783785 |
459 | N>S | Inborn genetic diseases Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs587783786 CA271798 RCV000146407 COSM3843867 |
460 | E>* | Variant assessed as Somatic; impact. breast Severe X-linked myotubular myopathy [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000781954 RCV001543470 CA415259636 rs782234944 |
461 | Q>* | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000146408 rs587783787 CA271801 |
463 | L>S | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA271804 rs587783787 RCV000146409 |
463 | L>W | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA415259694 rs587783789 RCV000636896 VAR_006408 |
469 | H>P | Severe X-linked myotubular myopathy CNMX [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000146411 CA271810 rs587783789 |
469 | H>R | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_018255 | 470 | L>P | CNMX; severe [UniProt] | Yes | UniProt |
|
RCV000146414 CA271814 RCV000523062 rs587783792 |
474 | R>* | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA271817 RCV000146415 rs587783793 |
476 | G>V | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2040200948 RCV001219552 |
477 | T>A | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000146416 CA271820 rs587783794 |
478 | F>S | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_018256 | 481 | N>Y | CNMX; mild [UniProt] | Yes | UniProt |
|
rs782137551 CA10539261 RCV000605492 RCV000527810 |
485 | A>V | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA271823 RCV000146417 rs587783795 COSM98192 |
486 | R>* | upper_aerodigestive_tract Severe X-linked myotubular myopathy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA10539263 RCV001302595 rs782032230 |
486 | R>Q | Variant assessed as Somatic; 0.0 impact. Severe X-linked myotubular myopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001549673 RCV000146420 rs587783797 |
489 | Q>missing | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_006409 rs587783801 RCV000146425 CA271838 |
499 | W>R | Severe X-linked myotubular myopathy CNMX; mild [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000809205 CA415260061 rs1557414802 RCV000502602 |
502 | I>K | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002247538 RCV000146426 rs587783802 |
503 | N>missing | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_009222 | 510 | K>N | CNMX; severe [UniProt] | Yes | UniProt |
|
RCV001869169 rs1569565536 RCV000785044 CA415260174 |
511 | N>K | Autosomal dominant centronuclear myopathy Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000146429 rs587783805 CA271843 |
520 | R>* | Variant assessed as Somatic; impact. Severe X-linked myotubular myopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000817638 rs1603214706 CA415023218 |
556 | R>C | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA336163057 RCV002534370 RCV000699135 rs372735301 |
556 | R>H | Inborn genetic diseases Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV000146431 rs587783807 RCV000873997 CA172597 |
568 | I>V | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1347335331 RCV000686374 CA415023346 |
575 | Q>P | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000636895 CA415023347 rs1347335331 |
575 | Q>R | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000920630 CA10539320 rs148195763 |
577 | A>T | Variant assessed as Somatic; 0.0 impact. Severe X-linked myotubular myopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001240082 rs1195705222 CA415023411 |
585 | P>A | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000146432 rs34119065 |
598 | H>missing | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201373390 RCV000875386 CA10539328 |
598 | H>R | Severe X-linked myotubular myopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA415248300 rs1557412510 |
6 | T>A | No |
ClinGen gnomAD |
|
|
CA10539018 rs782665395 |
6 | T>N | No |
ClinGen ExAC gnomAD |
|
|
RCV000394658 rs886044770 |
7 | S>missing | No |
ClinVar dbSNP |
|
|
rs782293228 CA10539019 |
11 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557412512 CA415248390 |
12 | H>Q | No |
ClinGen gnomAD |
|
|
CA10539020 rs144473998 |
13 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs886039522 CA10588745 RCV000254935 |
17 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA415248504 rs1172243532 |
20 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 23 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1381506126 CA415249756 |
24 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA10539036 rs782634894 |
28 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782072494 CA10539037 |
29 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1557412610 CA415250034 |
30 | D>E | No |
ClinGen gnomAD |
|
|
rs1557412609 CA415250026 |
30 | D>G | No |
ClinGen gnomAD |
|
|
CA415250166 rs1557412611 |
33 | E>D | No |
ClinGen TOPMed |
|
|
CA415250258 rs868992080 |
37 | R>Q | No |
ClinGen gnomAD |
|
|
RCV000078427 CA220528 rs398123266 |
41 | E>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1557412661 CA415250989 |
47 | K>E | No |
ClinGen gnomAD |
|
|
RCV000311673 rs398123270 |
48 | E>missing | No |
ClinVar dbSNP |
|
|
CA415251026 rs1557412662 COSM1116780 |
48 | E>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 54 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415251360 rs1258893931 |
56 | N>D | No |
ClinGen TOPMed |
|
|
CA10539054 rs374837228 |
58 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA415251551 rs1317362167 |
61 | G>R | No |
ClinGen TOPMed |
|
|
rs1557412668 CA415251614 |
63 | V>L | No |
ClinGen gnomAD |
|
|
COSM1315275 rs782277980 CA10539057 |
69 | R>H | Variant assessed as Somatic; 6.263e-05 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1557413087 CA415249392 |
78 | D>H | No |
ClinGen gnomAD |
|
|
rs782102264 CA10539069 |
84 | D>V | No |
ClinGen ExAC |
|
|
CA10539072 rs782148152 |
91 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10539071 rs781806828 |
91 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs199821243 CA337090990 |
93 | I>T | No |
ClinGen TOPMed |
|
|
rs782820233 CA10539073 |
96 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs782527127 COSM162603 CA10539075 |
99 | A>T | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA10539076 rs145204414 |
99 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs782449350 CA10539078 |
111 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs782652121 CA10539079 |
112 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782652121 CA415250330 |
112 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 117 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415251028 rs1557413210 |
118 | N>K | No |
ClinGen gnomAD |
|
|
rs1165846577 CA415251102 |
122 | A>P | No |
ClinGen TOPMed |
|
|
CA10539092 rs782109971 |
136 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs781852283 CA10539093 |
136 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374075654 COSM1215676 CA337091207 |
138 | T>M | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs782547706 CA10539095 |
139 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1557413215 COSM1682961 CA415251577 |
141 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA337091209 rs782543844 |
148 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10539115 rs782149231 |
149 | P>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1557413782 CA415255510 |
150 | L>S | No |
ClinGen Ensembl |
|
|
rs1433526577 CA415255572 |
155 | N>S | No |
ClinGen TOPMed |
|
|
rs782709837 COSM3559030 CA10539116 |
156 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs781791352 CA10539117 |
158 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs781874330 CA10539121 |
162 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781874330 CA10539120 |
162 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10539122 rs782679553 |
162 | D>V | No |
ClinGen ExAC TOPMed |
|
|
CA415255721 rs1557413785 |
165 | T>I | No |
ClinGen gnomAD |
|
|
rs1603185038 RCV001008579 |
168 | N>missing | No |
ClinVar dbSNP |
|
|
rs782274835 CA10539123 |
170 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA10539129 COSM456961 rs781995404 |
180 | N>S | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs878853108 RCV000224134 |
189 | N>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 191 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557413850 CA415256043 |
191 | C>F | No |
ClinGen gnomAD |
|
|
CA415256039 rs1557413848 |
191 | C>S | No |
ClinGen gnomAD |
|
|
CA415256063 rs1557413851 |
194 | L>V | No |
ClinGen gnomAD |
|
|
CA10603604 RCV000318520 rs886041343 |
198 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs398123273 RCV000293067 |
199 | P>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 201 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1470686963 CA415256148 |
207 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs782127637 CA10539136 |
208 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs868921502 CA337092250 |
214 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10539137 rs782761570 |
214 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA10539138 rs781904918 |
215 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA10539139 rs782156492 |
216 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1557413856 CA415256213 |
218 | T>A | No |
ClinGen gnomAD |
|
|
CA10539151 rs782210925 |
234 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs375590163 CA10539152 |
237 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs781984239 CA10539153 |
246 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs368335697 CA10539156 |
248 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10539157 rs372351233 |
249 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10539158 rs782740989 |
252 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 258 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 258 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10539160 rs781816016 |
261 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs781816016 CA10539159 |
261 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs781893456 COSM282915 CA10539162 |
262 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA10539163 rs140425194 |
263 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201819359 CA10539165 |
265 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA415256552 rs1264102271 |
267 | T>I | No |
ClinGen TOPMed |
|
|
CA10539166 rs782474609 |
270 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
RCV001008237 rs1603192748 |
272 | S>missing | No |
ClinVar dbSNP |
|
|
CA415256590 rs1557413961 |
273 | K>E | No |
ClinGen gnomAD |
|
|
CA10539167 rs782649925 |
274 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA10539168 rs782238572 |
277 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 292 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415256749 rs1557414119 |
295 | Y>H | No |
ClinGen gnomAD |
|
|
rs1430447786 CA415256777 |
297 | S>R | No |
ClinGen TOPMed |
|
|
CA415256813 rs1557414121 |
300 | A>V | No |
ClinGen gnomAD |
|
|
CA10539181 rs781793723 |
302 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10539183 rs782730135 |
304 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10539187 rs587783861 |
305 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 306 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415256885 rs1557414124 |
306 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 312 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10539190 rs781843399 |
317 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782462553 CA10539191 |
318 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10539192 rs782645058 |
321 | L>F | No |
ClinGen ExAC gnomAD |
|
| rs587783865 | 324 | V>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs587783865 | 324 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10539194 rs782411443 |
336 | H>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 340 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415257286 rs1224779396 |
342 | E>V | No |
ClinGen TOPMed |
|
|
CA415257305 rs1278250269 |
344 | T>A | No |
ClinGen TOPMed |
|
|
rs965242993 CA337092597 |
348 | E>G | No |
ClinGen Ensembl |
|
|
rs1414733649 CA415257399 |
350 | I>T | No |
ClinGen TOPMed |
|
|
rs782558893 CA10539209 |
353 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10539210 rs782675333 |
357 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA415258143 rs1557414501 |
359 | Q>K | No |
ClinGen gnomAD |
|
|
CA415258159 rs1221069841 |
360 | V>I | No |
ClinGen TOPMed |
|
|
rs1603204636 CA415258190 |
362 | D>G | No |
ClinGen Ensembl |
|
|
rs1557414504 CA415258209 |
363 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 365 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1304111944 CA415258254 |
366 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs782438379 CA10539212 |
368 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1557414505 CA415258300 |
370 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 380 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415258474 rs1557414512 |
384 | Q>* | No |
ClinGen gnomAD |
|
|
CA234282 rs727504019 |
390 | M>K | No |
ClinGen Ensembl |
|
|
rs782295697 CA10539217 |
399 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1358278864 CA415258738 |
401 | E>A | No |
ClinGen TOPMed |
|
| TCGA novel | 403 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415258793 rs1395119615 |
405 | I>M | No |
ClinGen TOPMed |
|
|
rs1188510665 CA415258798 |
406 | L>V | No |
ClinGen TOPMed |
|
|
rs17852824 CA337093016 |
410 | E>K | No |
ClinGen Ensembl |
|
|
CA415258873 COSM1316542 rs1448251098 |
411 | W>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs587783765 CA415258884 |
412 | I>L | No |
ClinGen gnomAD |
|
|
rs782733234 CA10539221 |
417 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs781950925 CA10539222 |
419 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 420 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415259160 rs1557414596 |
426 | D>N | No |
ClinGen gnomAD |
|
|
CA415259292 rs1557414601 |
434 | R>H | No |
ClinGen gnomAD |
|
|
CA337093117 rs368363225 |
437 | I>V | No |
ClinGen ESP gnomAD |
|
|
rs398123267 RCV000078429 |
438 | F>missing | No |
ClinVar dbSNP |
|
|
rs1375475868 CA415259428 |
444 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1375475868 CA415259424 |
444 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs398123268 RCV000378438 |
453 | P>missing | No |
ClinVar dbSNP |
|
|
rs782468065 CA415259585 |
453 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10539253 rs782468065 |
453 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557414638 CA415259590 |
454 | T>A | No |
ClinGen gnomAD |
|
|
RCV000078431 CA220532 rs398123269 |
457 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1047941099 CA337093143 |
458 | F>L | No |
ClinGen Ensembl |
|
|
rs782234944 CA10539255 |
461 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA10539257 rs145233301 |
463 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 465 | I>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415259693 rs1327304427 |
469 | H>D | No |
ClinGen TOPMed |
|
|
CA415259707 rs1557414644 |
471 | Y>C | No |
ClinGen gnomAD |
|
|
rs797044503 RCV000388294 |
472 | S>missing | No |
ClinVar dbSNP |
|
|
rs782364557 CA10539259 |
474 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1557414650 CA415259772 |
481 | N>D | No |
ClinGen gnomAD |
|
|
rs187092837 CA10539260 |
482 | C>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1415011919 CA415259815 |
487 | E>D | No |
ClinGen TOPMed |
|
|
rs1557414652 CA415259818 |
488 | R>K | No |
ClinGen gnomAD |
|
|
rs1557414653 CA415259821 |
488 | R>S | No |
ClinGen gnomAD |
|
|
rs782354594 CA10539287 |
490 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781948606 CA10539288 |
490 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 492 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415259913 rs1401864234 |
492 | T>I | No |
ClinGen TOPMed |
|
|
CA337093285 rs1002384686 |
493 | E>K | No |
ClinGen Ensembl |
|
|
CA415259955 rs782128516 RCV000518421 |
495 | T>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA10539289 rs782128516 |
495 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs782758280 CA10539290 |
497 | S>P | No |
ClinGen ExAC gnomAD |
|
|
COSM1116796 rs587783800 CA271835 RCV000146424 |
497 | S>Y | large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs782029735 CA10539291 |
498 | L>S | No |
ClinGen ExAC |
|
|
CA415260047 rs1342299399 |
501 | L>Q | No |
ClinGen TOPMed |
|
|
CA415260062 rs1557414802 |
502 | I>T | No |
ClinGen gnomAD |
|
|
rs1557414808 CA415260085 |
504 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 506 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs398123271 RCV000723780 RCV000503739 |
513 | F>NWI | No |
ClinVar dbSNP |
|
|
CA415260207 rs1557414809 |
514 | Y>C | No |
ClinGen gnomAD |
|
|
CA337093287 rs868972342 |
516 | K>E | No |
ClinGen TOPMed |
|
|
rs1557414810 CA415260259 |
519 | N>S | No |
ClinGen gnomAD |
|
|
CA415260267 rs1569565537 COSM1215677 |
520 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA10539293 rs782705509 |
521 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA10539294 rs781846543 |
528 | M>L | No |
ClinGen ExAC gnomAD |
|
|
COSM3424568 rs782468721 CA10539295 |
529 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 531 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782798100 CA10539296 |
532 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA337093288 rs983302980 |
532 | E>Q | No |
ClinGen Ensembl |
|
|
CA415260394 rs868978574 |
533 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
RCV000397753 CA10603411 rs886041657 |
537 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1557414814 CA415260440 |
539 | I>V | No |
ClinGen gnomAD |
|
|
CA337093289 rs782734371 |
544 | R>K | No |
ClinGen Ensembl |
|
| TCGA novel | 544 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10539298 rs782556613 |
546 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs782006230 CA10539311 |
550 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1569565554 CA415023188 |
552 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 555 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782115195 CA10539312 |
557 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1557415134 CA415023232 |
558 | M>T | No |
ClinGen gnomAD |
|
|
rs1557415135 CA415023247 |
560 | L>F | No |
ClinGen gnomAD |
|
|
COSM3406071 rs782803138 CA10539313 |
564 | R>C | Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs781895025 CA10539314 |
564 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
| TCGA novel | 565 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557415139 CA415023287 |
566 | E>G | No |
ClinGen gnomAD |
|
|
rs1557415137 CA415023284 |
566 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10539316 rs782469735 |
570 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA415023314 COSM1116799 rs1320557351 |
570 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs143813478 CA10539317 |
571 | L>V | No |
ClinGen ESP ExAC |
|
|
CA415023326 rs1557415143 |
572 | E>G | No |
ClinGen gnomAD |
|
|
CA415023355 rs1569565555 |
576 | L>P | No |
ClinGen Ensembl |
|
|
CA10539321 rs148195763 |
577 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1557415146 COSM1116800 CA415023360 |
577 | A>V | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA415023400 rs1557415148 |
583 | S>F | No |
ClinGen gnomAD |
|
|
CA415023404 rs1557415151 |
584 | D>A | No |
ClinGen gnomAD |
|
|
rs1603214867 CA415023401 |
584 | D>N | No |
ClinGen Ensembl |
|
|
rs782482838 CA415023417 |
586 | P>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs782482838 CA415023415 |
586 | P>T | No |
ClinGen 1000Genomes gnomAD |
|
|
CA415023423 rs1247484844 |
587 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA10539324 rs782272996 |
590 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA10539323 rs782604912 |
590 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA415023460 rs950958823 |
593 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs950958823 CA336163071 |
593 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs367692513 CA10539326 |
595 | M>V | No |
ClinGen ESP ExAC TOPMed |
|
|
rs782144341 CA10539327 |
596 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA415023499 rs1311369931 |
599 | V>M | No |
ClinGen TOPMed |
|
|
CA415023521 rs1300878676 |
602 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA336163081 rs983706084 |
604 | F>C | No |
ClinGen Ensembl |
No associated diseases with Q13496
9 regional properties for Q13496
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | SH3 domain | 9 - 70 | IPR001452 |
| domain | C2 DOCK-type domain | 421 - 617 | IPR027007 |
| domain | DOCKER domain | 1207 - 1617 | IPR027357 |
| domain | Dedicator of cytokinesis, N-terminal domain | 73 - 416 | IPR032376 |
| domain | DOCKER, Lobe A | 1202 - 1330 | IPR046769 |
| domain | DOCKER, Lobe B | 1388 - 1469 | IPR046770 |
| domain | DOCKER, Lobe C | 1508 - 1610 | IPR046773 |
| domain | Dedicator of cytokinesis protein 1/5, SH3 domain | 13 - 68 | IPR047025 |
| domain | Dedicator of cytokinesis protein 1, C2 domain | 424 - 619 | IPR047026 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.3.64 | Phosphoric monoester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| filopodium | Thin, stiff, actin-based protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal or dendritic growth cone, or a dendritic shaft. |
| I band | A region of a sarcomere that appears as a light band on each side of the Z disc, comprising a region of the sarcomere where thin (actin) filaments are not overlapped by thick (myosin) filaments; contains actin, troponin, and tropomyosin; each sarcomere includes half of an I band at each end. |
| late endosome | A prelysosomal endocytic organelle differentiated from early endosomes by lower lumenal pH and different protein composition. Late endosomes are more spherical than early endosomes and are mostly juxtanuclear, being concentrated near the microtubule organizing center. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| ruffle | Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| intermediate filament binding | Binding to an intermediate filament, a distinct elongated structure, characteristically 10 nm in diameter, that occurs in the cytoplasm of higher eukaryotic cells. Intermediate filaments form a fibrous system, composed of chemically heterogeneous subunits and involved in mechanically integrating the various components of the cytoplasmic space. |
| phosphatidylinositol binding | Binding to an inositol-containing glycerophospholipid, i.e. phosphatidylinositol (PtdIns) and its phosphorylated derivatives. |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity | Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate + H2O = a 1-phosphatidyl-1D-myo-inositol 5-phosphate + phosphate + 2 H+. |
| phosphatidylinositol-3-phosphatase activity | Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 3-phosphate + H2O = 1-phosphatidyl-1D-myo-inositol + phosphate. |
| phosphoprotein phosphatase activity | Catalysis of the reaction: a phosphoprotein + H2O = a protein + phosphate. Together with protein kinases, these enzymes control the state of phosphorylation of cellular proteins and thereby provide an important mechanism for regulating cellular activity. |
20 GO annotations of biological process
| Name | Definition |
|---|---|
| autophagosome assembly | The formation of a double membrane-bounded structure, the autophagosome, that occurs when a specialized membrane sac, called the isolation membrane, starts to enclose a portion of the cytoplasm. |
| endosome to lysosome transport | The directed movement of substances from endosomes to lysosomes. |
| intermediate filament organization | Control of the spatial distribution of intermediate filaments; includes organizing filaments into meshworks, bundles, or other structures, as by cross-linking. |
| mitochondrion distribution | Any process that establishes the spatial arrangement of mitochondria between and within cells. |
| mitochondrion morphogenesis | The process in which the anatomical structures of a mitochondrion are generated and organized. |
| muscle cell cellular homeostasis | The cellular homeostatic process that preserves a muscle cell in a stable functional or structural state. |
| negative regulation of autophagosome assembly | Any process that stops, prevents or reduces the frequency, rate or extent of autophagosome assembly. |
| negative regulation of proteasomal ubiquitin-dependent protein catabolic process | Any process that stops, prevents, or reduces the frequency, rate or extent of the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome. |
| negative regulation of protein kinase B signaling | Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B. |
| negative regulation of TOR signaling | Any process that stops, prevents, or reduces the frequency, rate or extent of TOR signaling. |
| phosphatidylinositol biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. |
| phosphatidylinositol dephosphorylation | The process of removing one or more phosphate groups from a phosphatidylinositol. |
| positive regulation of skeletal muscle tissue growth | Any process that activates, maintains or increases the rate of skeletal muscle growth. |
| proteasome-mediated ubiquitin-dependent protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome. |
| protein dephosphorylation | The process of removing one or more phosphoric residues from a protein. |
| protein kinase B signaling | A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase B (also called AKT), which occurs as a result of a single trigger reaction or compound. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| regulation of vacuole organization | Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a vacuole. |
| skeletal muscle tissue growth | The increase in size or mass of a skeletal muscle. This may be due to a change in the fiber number or size. |
| TOR signaling | The series of molecular signals mediated by TOR (Target of rapamycin) proteins, members of the phosphoinositide (PI) 3-kinase related kinase (PIKK) family that act as serine/threonine kinases in response to nutrient availability or growth factors. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A6QLT4 | MTM1 | Myotubularin | Bos taurus (Bovine) | PR |
| Q86WG5 | SBF2 | Myotubularin-related protein 13 | Homo sapiens (Human) | PR |
| O95248 | SBF1 | Myotubularin-related protein 5 | Homo sapiens (Human) | PR |
| Q13613 | MTMR1 | Myotubularin-related protein 1 | Homo sapiens (Human) | PR |
| Q13614 | MTMR2 | Myotubularin-related protein 2 | Homo sapiens (Human) | PR |
| Q96QG7 | MTMR9 | Myotubularin-related protein 9 | Homo sapiens (Human) | PR |
| Q9Y217 | MTMR6 | Myotubularin-related protein 6 | Homo sapiens (Human) | PR |
| Q9Y216 | MTMR7 | Myotubularin-related protein 7 | Homo sapiens (Human) | PR |
| Q9Z2C5 | Mtm1 | Myotubularin | Mus musculus (Mouse) | PR |
| Q5EB32 | mtm1 | Myotubularin | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASASTSKYN | SHSLENESIK | RTSRDGVNRD | LTEAVPRLPG | ETLITDKEVI | YICPFNGPIK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GRVYITNYRL | YLRSLETDSS | LILDVPLGVI | SRIEKMGGAT | SRGENSYGLD | ITCKDMRNLR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FALKQEGHSR | RDMFEILTRY | AFPLAHSLPL | FAFLNEEKFN | VDGWTVYNPV | EEYRRQGLPN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HHWRITFINK | CYELCDTYPA | LLVVPYRASD | DDLRRVATFR | SRNRIPVLSW | IHPENKTVIV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RCSQPLVGMS | GKRNKDDEKY | LDVIRETNKQ | ISKLTIYDAR | PSVNAVANKA | TGGGYESDDA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YHNAELFFLD | IHNIHVMRES | LKKVKDIVYP | NVEESHWLSS | LESTHWLEHI | KLVLTGAIQV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ADKVSSGKSS | VLVHCSDGWD | RTAQLTSLAM | LMLDSFYRSI | EGFEILVQKE | WISFGHKFAS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RIGHGDKNHT | DADRSPIFLQ | FIDCVWQMSK | QFPTAFEFNE | QFLIIILDHL | YSCRFGTFLF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NCESARERQK | VTERTVSLWS | LINSNKEKFK | NPFYTKEINR | VLYPVASMRH | LELWVNYYIR |
| 550 | 560 | 570 | 580 | 590 | 600 |
| WNPRIKQQQP | NPVEQRYMEL | LALRDEYIKR | LEELQLANSA | KLSDPPTSPS | SPSQMMPHVQ |
| THF |