Q86YT5
PR
Gene name |
SLC13A5 (NACT) |
Protein name |
Na(+)/citrate cotransporter |
Names |
NaCT, Sodium-coupled citrate transporter, Sodium-dependent citrate transporter, Solute carrier family 13 member 5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:284111 |
EC number |
|
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
3 structures for Q86YT5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7JSJ | EM | 312 A | A/B | 1-568 | PDB |
| 7JSK | EM | 304 A | A/B | 1-568 | PDB |
| AF-Q86YT5-F1 | Predicted | AlphaFoldDB |
406 variants for Q86YT5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000807290 rs1597686195 |
1 | M>I | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8331901 RCV000545598 RCV002341456 rs146396085 |
2 | A>T | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases Developmental and epileptic encephalopathy, 25 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1974091514 RCV001333660 |
14 | F>L | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs941552722 CA287399799 RCV001305429 |
17 | L>F | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP ClinGen gnomAD |
|
CA397753827 RCV000797387 rs1249830087 |
18 | F>L | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1567628652 RCV000696423 CA397753767 |
21 | P>A | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs762903735 CA8331860 RCV001341782 |
46 | A>V | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001232830 rs1223073326 |
57 | A>S | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001325041 rs1973889353 |
59 | T>missing | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001058616 rs1973889704 |
60 | S>P | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8331855 rs376024540 RCV000652323 |
64 | V>I | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000807588 rs746055240 CA8331854 |
68 | P>S | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8331850 rs778196660 RCV001043778 |
76 | R>K | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs930818882 RCV001045129 CA287397264 |
80 | V>A | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001216491 rs1973877779 |
83 | M>R | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA397751061 RCV000798655 rs919457838 |
88 | M>L | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555543400 RCV000989690 CA397751024 |
91 | L>P | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000820761 rs201070023 CA8331790 |
93 | G>S | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001051515 CA8331788 RCV002252301 rs770640829 |
96 | V>M | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1597676768 RCV000795405 CA397750958 |
97 | A>T | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs529524270 CA8331786 RCV000486832 RCV001346849 |
98 | V>M | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1435998726 CA397750895 RCV001235049 |
102 | R>C | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000652318 RCV001766416 RCV002442354 CA8331782 rs764688100 |
102 | R>H | Inborn genetic diseases Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA397750873 rs1597676674 RCV000807855 |
103 | W>* | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs750520927 RCV001331884 CA8331781 |
104 | N>K | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001311106 rs762062274 RCV001242699 CA8331779 |
106 | H>R | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs376995742 CA8331778 RCV001045130 |
107 | K>R | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs761010502 RCV001316539 |
109 | I>M | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001216514 rs1973874074 |
109 | I>V | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001224686 CA8331774 rs772720272 |
112 | R>H | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002528257 RCV000687384 CA8331773 RCV000521962 rs759069275 |
113 | T>M | Inborn genetic diseases Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs777351597 CA8331769 RCV001306411 |
120 | K>E | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1973871631 RCV001230472 |
121 | P>L | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001300899 rs368701407 CA8331768 |
121 | P>T | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA8331765 RCV002315973 RCV000652324 rs754937425 |
123 | R>W | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases Developmental and epileptic encephalopathy, 25 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA8331722 rs140389204 RCV002526621 RCV000481819 RCV000810315 |
131 | V>I | Inborn genetic diseases Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs761917087 RCV000202397 CA213347 VAR_078912 |
142 | T>M | Variant assessed as Somatic; 0.0 impact. Developmental and epileptic encephalopathy, 25 DEE25; no loss of localization to plasma membrane; loss of function in citrate transport [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000989689 CA397750140 RCV001557426 rs1202091819 |
145 | T>M | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA8331715 rs764711084 RCV001764623 RCV001252851 RCV000556517 |
147 | M>I | Microcephaly Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000817463 rs774491349 CA8331707 |
156 | L>F | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000658283 rs748215544 RCV001301836 |
162 | T>missing | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1973790070 RCV001338679 |
163 | S>G | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001309500 rs769026137 CA8331702 |
164 | A>T | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA397750006 RCV001347701 rs1415995914 |
166 | T>A | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs758852137 CA8331699 RCV001241055 |
166 | T>N | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8331698 RCV000820071 rs373010067 |
167 | E>K | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs373010067 RCV001229402 |
167 | E>Q | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555542943 RCV000497564 CA397749995 RCV001807262 RCV002318606 |
168 | A>T | Inborn genetic diseases Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199620361 CA8331696 RCV001574963 RCV001049896 |
169 | G>S | Variant assessed as Somatic; 0.0 impact. Developmental and epileptic encephalopathy, 25 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1412352155 RCV000817564 CA397749976 |
171 | E>G | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA397749954 rs1160099071 RCV001305973 |
174 | D>E | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP ClinGen gnomAD |
|
RCV001053973 rs1973787933 |
176 | G>C | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs766313348 CA8331669 RCV001209958 RCV002561722 |
190 | G>D | Inborn genetic diseases Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001347860 rs1973761446 |
190 | G>S | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs772459786 RCV001348183 CA287396003 |
194 | G>E | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA8331664 RCV000560116 rs200275193 RCV002315021 |
201 | R>Q | Inborn genetic diseases Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001340849 CA8331665 rs142320179 |
201 | R>W | Variant assessed as Somatic; 0.0 impact. Developmental and epileptic encephalopathy, 25 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001238113 rs1973759255 |
208 | M>T | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
TCGA novel CA397749029 RCV000793248 rs1271011718 |
215 | A>T | Variant assessed as Somatic; impact. Developmental and epileptic encephalopathy, 25 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001213700 RCV001552190 CA287395966 rs777563695 |
215 | A>V | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs144332569 RCV000128860 CA210665 RCV002362772 RCV001311105 VAR_078913 |
219 | G>R | Inborn genetic diseases Developmental and epileptic encephalopathy, 25 DEE25; loss of function in citrate transport; loss of localization to plasma membrane [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000560610 RCV000522083 CA8331653 rs182042247 |
225 | T>I | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA210667 rs587777577 RCV000826127 VAR_078914 RCV000128861 RCV001701766 |
227 | T>M | Variant assessed as Somatic; 0.0 impact. Developmental and epileptic encephalopathy, 25 DEE25; loss of function in citrate transport; no effect on localization to plasma membrane [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA8331649 rs760650951 RCV000652320 |
230 | N>S | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs759705331 RCV001305284 CA8331646 |
231 | V>M | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs747576233 CA8331640 RCV001206522 |
238 | N>D | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002538094 RCV000811301 rs754553205 CA8331639 |
238 | N>K | Inborn genetic diseases Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1973754222 RCV001321035 |
239 | E>G | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001209193 CA8331615 rs778721131 |
246 | D>G | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA397747375 rs1295906896 RCV001339144 |
248 | V>M | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001785702 RCV000690168 rs150517372 CA8331610 RCV003163143 |
251 | A>V | Inborn genetic diseases Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001331885 rs1973699059 |
262 | L>P | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs777184227 CA8331604 RCV001232004 |
268 | A>T | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001057312 rs1973697429 |
277 | M>I | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000806730 CA8331580 CA287388259 RCV001561178 rs761215437 |
288 | G>R | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
CA8331577 rs759034052 RCV000652321 RCV001569871 |
293 | K>E | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs749077002 RCV000819246 CA8331574 |
295 | E>K | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1057524830 RCV001861645 CA16607815 RCV000436984 |
297 | A>T | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001313423 rs1973547380 |
301 | V>M | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8331571 RCV002534460 RCV000706296 rs377021126 |
307 | R>Q | Inborn genetic diseases Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8331572 rs769595777 RCV001214554 |
307 | R>W | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001039024 rs201678684 CA8331568 RCV002372761 |
311 | P>S | Inborn genetic diseases Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001202622 rs1973546077 |
312 | L>missing | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA397744434 RCV000542738 rs138841868 |
315 | A>E | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8331565 RCV000705090 rs138841868 |
315 | A>V | Variant assessed as Somatic; 0.0 impact. Developmental and epileptic encephalopathy, 25 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001247536 CA8331563 rs199612064 COSM1225923 |
319 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine Developmental and epileptic encephalopathy, 25 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001234080 CA8331561 RCV001760242 rs146116408 |
324 | F>L | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
CA8331560 RCV001219982 RCV000493347 rs142301014 |
331 | F>I | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs773770609 CA8331558 RCV002313992 RCV000416469 RCV000368574 |
333 | R>* | Inborn genetic diseases Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000520045 CA397743943 rs1379095103 RCV002060270 |
333 | R>Q | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001045368 rs765942920 CA8331557 |
334 | D>E | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1183731879 RCV001219977 CA397743938 |
334 | D>Y | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000800790 CA397743863 rs1187250417 |
336 | G>S | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000202400 RCV001549634 rs150203483 CA210837 |
341 | W>* | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_078915 | 341 | W>del | DEE25; loss of localization to plasma membrane; loss of function in citrate transport [UniProt] | Yes | UniProt |
|
RCV002315020 CA8331551 RCV001584339 rs746999375 RCV000544175 |
346 | W>L | Inborn genetic diseases Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001574300 RCV002315417 RCV001055609 rs151050636 CA8331524 |
356 | D>N | Inborn genetic diseases Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1567616807 RCV002318627 CA397742511 |
375 | P>H | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8331509 rs370020005 RCV001236512 |
376 | K>R | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8331508 rs377270604 RCV001219549 |
380 | R>C | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000658763 RCV001861705 rs1555541486 |
381 | S>missing | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001237524 rs1461948332 CA397742407 |
384 | E>K | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001772297 rs1423476132 RCV001066902 |
388 | K>R | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001322847 rs748877090 |
389 | T>I | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001072071 rs777258503 |
391 | F>S | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001221014 rs1973457144 |
400 | K>M | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000798951 rs1597659809 |
400 | K>Q | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000202392 rs863225447 |
407 | P>missing | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000688641 rs1206208725 |
414 | L>V | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs150738356 RCV001211153 VAR_084749 |
420 | L>P | Developmental and epileptic encephalopathy, 25 loss of localization to plasma membrane; loss of function in citrate transport [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs754804579 RCV000806936 |
425 | E>K | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs548065551 RCV000202396 VAR_078916 |
427 | S>L | Developmental and epileptic encephalopathy, 25 DEE25; loss of localization to plasma membrane; loss of function in citrate transport [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs201036096 RCV001732123 RCV001316201 |
431 | V>L | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000551020 RCV002384246 rs201036096 |
431 | V>M | Inborn genetic diseases Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001302564 rs1064796654 RCV000480658 |
433 | M>T | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs759705304 RCV000701697 |
434 | G>R | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1197782289 RCV001305544 |
436 | Q>missing | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs980479909 RCV000652319 |
437 | M>L | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001067612 rs765709852 RCV000414139 RCV002314116 |
444 | P>S | Inborn genetic diseases Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000652317 rs558866003 |
445 | P>L | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001773608 RCV001300633 rs373587508 |
445 | P>T | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1399161589 RCV000652316 |
446 | A>P | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002384247 rs146047560 RCV001311104 RCV000524903 |
456 | V>I | Inborn genetic diseases Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002379316 RCV000417892 rs372801738 RCV000541177 |
458 | V>M | Inborn genetic diseases Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000822538 rs1475919318 |
469 | T>A | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001046009 RCV002318250 rs777285678 |
474 | P>S | Inborn genetic diseases Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000816292 rs555139145 |
481 | R>C | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001231253 rs1236635295 |
482 | S>F | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000525102 rs143719876 |
483 | I>V | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000555123 rs779942374 |
484 | G>S | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001201857 rs779336736 |
487 | P>L | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs754295995 RCV001298443 |
488 | L>M | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000128862 rs587777578 VAR_078917 |
488 | L>P | Developmental and epileptic encephalopathy, 25 DEE25; loss of function in citrate transport; loss of localization to plasma membrane [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
RCV000416419 rs1057519449 |
492 | L>P | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000822230 rs1255190713 |
495 | T>missing | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs765088400 RCV000791557 |
503 | M>T | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1211773372 RCV001344418 RCV000524016 |
504 | L>missing | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs936922976 RCV001045451 |
505 | P>L | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201089077 RCV001341355 |
514 | V>M | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001035159 rs1221511903 |
522 | V>I | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs863225448 VAR_078918 RCV000202401 |
524 | D>H | Developmental and epileptic encephalopathy, 25 DEE25; loss of function in citrate transport; no effect on localization to plasma membrane [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs569395560 RCV000521158 RCV000533422 RCV002527639 |
528 | T>A | Inborn genetic diseases Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001350273 rs1973250595 |
533 | N>K | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1973250507 RCV001050823 |
534 | I>V | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597651569 RCV000792564 |
539 | C>R | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000652322 rs202208840 |
543 | A>D | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001217187 rs373799811 |
549 | R>Q | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001222857 rs770090939 |
549 | R>W | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1453393447 RCV001331883 |
552 | F>I | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs769020153 RCV000703898 |
558 | P>L | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1973247421 RCV001045389 |
563 | V>M | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001312783 rs771551520 |
564 | T>I | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1311685227 RCV000817124 |
565 | H>* | Developmental and epileptic encephalopathy, 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA397754099 rs1356594210 |
4 | A>V | No |
ClinGen TOPMed |
|
|
CA287399813 rs1037124836 |
6 | S>N | No |
ClinGen Ensembl |
|
|
CA8331898 rs568118247 |
7 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774282356 CA8331896 |
12 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1223974189 CA397753896 |
15 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA287399797 rs908939554 |
18 | F>L | No |
ClinGen Ensembl |
|
|
rs770791317 CA8331895 |
19 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202157552 CA8331894 |
20 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA287399793 rs75168043 |
20 | T>P | No |
ClinGen Ensembl |
|
|
CA287399785 rs75759869 |
22 | L>P | No |
ClinGen Ensembl |
|
|
CA287399780 rs921658599 |
23 | L>P | No |
ClinGen Ensembl |
|
|
CA397753712 rs1597685998 |
25 | L>P | No |
ClinGen Ensembl |
|
|
rs1597685998 CA397753714 |
25 | L>Q | No |
ClinGen Ensembl |
|
|
CA397753696 rs1418793692 |
26 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 26 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8331890 rs780485815 |
28 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA397753667 rs780485815 |
28 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1382524961 CA397753650 |
29 | I>V | No |
ClinGen gnomAD |
|
|
rs976398072 CA287399767 |
31 | M>K | No |
ClinGen Ensembl |
|
|
CA397753581 rs1296132660 |
33 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA8331888 rs750766655 |
33 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1597677730 CA397752082 |
36 | V>D | No |
ClinGen Ensembl |
|
|
CA397752089 rs1354071715 |
36 | V>I | No |
ClinGen TOPMed |
|
|
rs1431018518 CA397752052 |
38 | C>G | No |
ClinGen gnomAD |
|
| TCGA novel | 39 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1423992008 CA397752042 |
39 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA397752029 rs1177474164 |
39 | A>V | No |
ClinGen gnomAD |
|
|
rs368620304 CA8331864 |
40 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8331862 rs751269563 |
41 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766071673 CA8331861 |
43 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA287397369 rs554762818 COSM561800 |
44 | L>F | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA397751900 rs1311732049 |
45 | M>I | No |
ClinGen gnomAD |
|
|
CA397751905 rs1208101006 |
45 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 48 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8331858 rs769864794 |
51 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs760787380 CA8331857 |
53 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA397751736 rs1367787065 |
54 | I>T | No |
ClinGen TOPMed |
|
|
CA287397359 rs914310093 |
56 | L>P | No |
ClinGen TOPMed |
|
|
rs1223073326 CA397751690 |
57 | A>P | No |
ClinGen TOPMed |
|
|
CA397751645 rs1265978129 |
59 | T>A | No |
ClinGen TOPMed |
|
|
rs1467934800 CA397751597 |
61 | L>V | No |
ClinGen TOPMed |
|
|
CA8331856 rs144640152 |
62 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397751492 rs1249735332 |
65 | L>F | No |
ClinGen TOPMed |
|
|
CA397751407 rs1458426377 |
70 | F>L | No |
ClinGen gnomAD |
|
|
CA8331852 rs771281348 |
72 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs749659104 CA8331851 |
74 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA397751340 rs1187380199 |
74 | D>G | No |
ClinGen TOPMed |
|
|
rs1018580511 CA287397350 |
76 | R>G | No |
ClinGen Ensembl |
|
|
CA8331849 rs756638508 |
77 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747526311 CA8331793 |
82 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397751129 rs1172076015 |
83 | M>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 86 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 87 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1457916051 CA397751067 |
87 | N>S | No |
ClinGen gnomAD |
|
|
CA397751049 rs1414544534 |
88 | M>I | No |
ClinGen gnomAD |
|
|
CA287397261 rs919457838 |
88 | M>V | No |
ClinGen TOPMed |
|
|
rs1567624768 CA397751038 |
90 | F>L | No |
ClinGen Ensembl |
|
|
rs1555543400 CA397751022 RCV000513164 |
91 | L>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1444096013 CA397750999 |
93 | G>D | No |
ClinGen gnomAD |
|
|
rs948570372 CA287397257 |
94 | L>I | No |
ClinGen Ensembl |
|
|
rs1199399452 CA397750983 |
95 | I>V | No |
ClinGen gnomAD |
|
|
CA8331785 rs755913824 |
99 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA397750916 rs1450761674 |
100 | V>M | No |
ClinGen gnomAD |
|
|
CA397750906 rs1271535457 |
101 | E>Q | No |
ClinGen TOPMed |
|
|
CA397750829 rs1406928296 |
105 | L>P | No |
ClinGen gnomAD |
|
|
rs1214712849 CA397750826 |
106 | H>D | No |
ClinGen TOPMed |
|
|
CA397750822 rs762062274 |
106 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397750791 rs1182439401 |
108 | R>M | No |
ClinGen gnomAD |
|
|
COSM983379 rs1249476346 CA397750769 |
110 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1597676610 RCV001003623 CA397750749 |
111 | L>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA8331775 rs372771266 |
112 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8331771 rs770390768 |
115 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 116 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1597676556 CA397750638 |
117 | V>G | No |
ClinGen Ensembl |
|
|
CA287397235 rs200064219 |
117 | V>L | No |
ClinGen Ensembl |
|
|
rs776226828 CA287397233 |
119 | A>T | No |
ClinGen Ensembl |
|
|
rs796185984 CA287397229 |
120 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs543812415 CA8331767 |
122 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8331766 rs543812415 |
122 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs530676026 CA8331764 |
123 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA397750256 rs1460566135 |
127 | G>D | No |
ClinGen gnomAD |
|
|
rs771925824 CA8331726 |
128 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs370368836 CA287396505 |
129 | M>T | No |
ClinGen ESP TOPMed |
|
|
rs1435160909 CA397750236 |
130 | G>D | No |
ClinGen gnomAD |
|
|
rs376255564 CA8331725 |
130 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397750222 rs1162788954 |
133 | A>T | No |
ClinGen gnomAD |
|
|
rs1490161374 CA397750217 |
133 | A>V | No |
ClinGen gnomAD |
|
|
CA397750214 rs1206640081 |
134 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1255237342 CA397750213 |
134 | L>H | No |
ClinGen gnomAD |
|
|
CA397750215 rs1206640081 |
134 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs781631576 CA8331721 |
137 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1050753720 CA287396493 |
140 | S>N | No |
ClinGen TOPMed |
|
|
rs755331183 CA8331720 |
142 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA8331718 rs758797129 |
145 | T>A | No |
ClinGen ExAC |
|
|
rs1177601742 CA397750134 |
146 | A>V | No |
ClinGen TOPMed |
|
|
CA397750124 rs1191725642 |
148 | M>V | No |
ClinGen TOPMed |
|
|
rs761377416 CA8331714 |
149 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000713346 CA397750116 rs1567622972 |
149 | V>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1468044380 CA397750109 |
150 | P>S | No |
ClinGen TOPMed |
|
|
CA8331710 rs575033281 |
152 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201862551 CA8331709 |
154 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8331708 rs759371567 |
155 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA287396455 rs866869614 |
159 | M>I | No |
ClinGen Ensembl |
|
|
CA287396452 rs80135217 |
160 | E>K | No |
ClinGen gnomAD |
|
|
rs1484028834 CA397750026 |
162 | T>I | No |
ClinGen gnomAD |
|
|
rs1484028834 CA397750025 |
162 | T>K | No |
ClinGen gnomAD |
|
|
CA8331701 rs747291615 COSM1740381 |
164 | A>V | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA8331700 rs780257013 |
165 | A>D | No |
ClinGen ExAC gnomAD |
|
|
RCV000413222 rs1057517820 |
171 | E>missing | No |
ClinVar dbSNP |
|
|
rs1345972403 CA397749978 |
171 | E>Q | No |
ClinGen gnomAD |
|
|
rs753368006 CA8331695 |
175 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1363226921 CA397749940 |
176 | G>V | No |
ClinGen gnomAD |
|
|
RCV000489414 rs1085307616 |
178 | A>missing | No |
ClinVar dbSNP |
|
|
rs763697101 CA8331694 |
181 | L>V | No |
ClinGen ExAC |
|
|
CA397749594 rs1367586666 |
184 | S>T | No |
ClinGen gnomAD |
|
|
rs761422778 CA287396028 |
185 | Q>R | No |
ClinGen Ensembl |
|
|
rs767264479 CA8331672 |
186 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA287396017 rs1020517053 |
187 | I>F | No |
ClinGen Ensembl |
|
|
rs766313348 CA8331670 |
190 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8331668 rs762938463 |
191 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA397749473 rs1466738477 |
192 | T>I | No |
ClinGen gnomAD |
|
|
CA287395997 rs879037582 |
195 | Q>K | No |
ClinGen Ensembl |
|
| TCGA novel | 202 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1421174838 CA397749309 |
202 | K>T | No |
ClinGen gnomAD |
|
|
CA287395986 rs949110880 |
203 | R>K | No |
ClinGen TOPMed |
|
|
CA287395983 rs949110880 |
203 | R>M | No |
ClinGen TOPMed |
|
|
CA287395980 rs796686091 |
204 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs917823806 CA287395978 |
206 | K>N | No |
ClinGen gnomAD |
|
|
CA397749222 rs772387151 |
207 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA8331663 rs772387151 |
207 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 208 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1437917977 CA397749144 |
210 | L>P | No |
ClinGen TOPMed |
|
|
CA8331662 rs746200244 |
213 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA397749034 rs1271011718 |
215 | A>S | No |
ClinGen gnomAD |
|
|
CA397749015 rs1275203185 |
216 | A>T | No |
ClinGen gnomAD |
|
|
rs1489445625 CA397748995 |
216 | A>V | No |
ClinGen TOPMed |
|
|
CA397748980 rs1200030293 |
217 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA397748943 rs547998800 |
218 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA287395957 rs940499171 |
218 | I>V | No |
ClinGen Ensembl |
|
|
CA287395951 rs150024888 VAR_084747 |
219 | G>E | loss of localization to plasma membrane; loss of function in citrate transport [UniProt] | No |
ClinGen UniProt ESP TOPMed dbSNP |
|
CA287395949 rs984644494 |
221 | T>I | No |
ClinGen gnomAD |
|
|
rs984644494 CA397748896 |
221 | T>S | No |
ClinGen gnomAD |
|
|
CA8331655 rs201674669 |
222 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8331656 COSM1479901 rs201674669 |
222 | A>T | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA8331654 rs754695052 |
222 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs758275567 CA8331651 |
226 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA287395920 rs200209192 |
228 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
rs202177854 CA8331645 |
231 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759705331 CA8331647 |
231 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8331643 rs749718065 |
232 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs771216243 CA8331644 |
232 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA8331641 rs770378924 |
235 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397748601 rs1295941896 |
237 | M>V | No |
ClinGen gnomAD |
|
|
CA397748498 rs1338244280 |
239 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8331617 rs771892236 |
241 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1567620724 CA397747519 |
242 | P>A | No |
ClinGen Ensembl |
|
|
rs142262032 CA8331616 VAR_084748 |
243 | D>N | no effect on localization to plasma membrane; no effect on its function in citrate transport [UniProt] | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA287394989 rs370488568 |
244 | S>N | No |
ClinGen Ensembl |
|
|
CA397747459 rs1214906061 |
244 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 244 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 245 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8331614 CA397747400 rs757015514 |
246 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs934417532 CA287394985 |
249 | N>K | No |
ClinGen Ensembl |
|
|
rs1051493638 RCV000479760 COSM1385601 CA16620586 |
249 | N>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
CA8331608 rs763190407 |
254 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA8331607 rs750628706 |
255 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1424151978 CA397747198 |
255 | A>V | No |
ClinGen gnomAD |
|
|
CA397747128 rs1412336807 |
260 | N>K | No |
ClinGen TOPMed |
|
|
rs947261597 CA287394983 |
261 | M>R | No |
ClinGen Ensembl |
|
|
CA8331606 rs765574199 |
263 | V>M | No |
ClinGen ExAC |
|
|
rs1172755607 CA397746999 |
267 | F>Y | No |
ClinGen gnomAD |
|
|
CA397746969 rs1296369237 |
268 | A>G | No |
ClinGen gnomAD |
|
|
rs777184227 CA397746974 COSM561802 |
268 | A>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1185777681 CA397746946 |
269 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1185777681 CA397746939 |
269 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA397746877 rs1597668523 |
273 | Q>* | No |
ClinGen Ensembl |
|
|
rs77405963 CA287394979 |
273 | Q>P | No |
ClinGen Ensembl |
|
|
rs1567620619 CA397746802 |
276 | Y>* | No |
ClinGen Ensembl |
|
|
rs1291316980 CA397745134 |
281 | F>L | No |
ClinGen TOPMed |
|
|
rs757622380 CA8331583 |
285 | W>R | No |
ClinGen ExAC |
|
|
CA8331579 rs370695545 |
291 | S>C | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA397744941 rs370695545 |
291 | S>G | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA397744901 rs1387526546 |
292 | K>R | No |
ClinGen TOPMed |
|
|
CA397744878 rs759034052 |
293 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143504660 CA397744821 |
294 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397744837 rs1597663337 |
294 | N>S | No |
ClinGen Ensembl |
|
|
CA397744811 rs1174010093 |
295 | E>A | No |
ClinGen gnomAD |
|
|
rs749077002 CA8331575 |
295 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397744777 rs1477649056 |
296 | K>N | No |
ClinGen gnomAD |
|
|
rs919867953 CA287388227 |
297 | A>V | No |
ClinGen TOPMed |
|
|
CA397744682 rs1183323322 |
302 | L>P | No |
ClinGen gnomAD |
|
|
CA8331573 rs139972538 |
303 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769595777 CA287388193 |
307 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397744445 rs201857984 |
315 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA397744438 rs201857984 |
315 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201857984 CA8331566 |
315 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1315824408 CA397744392 |
317 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA397744394 rs1315824408 |
317 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA397744361 rs764495638 |
318 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000489220 CA397744253 rs1085307860 |
322 | C>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA8331562 rs753251407 |
323 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs753251407 CA287388155 |
323 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1182060533 CA397744130 |
327 | V>G | No |
ClinGen TOPMed |
|
|
rs1413748655 CA397744105 |
328 | I>M | No |
ClinGen gnomAD |
|
|
rs1406657880 CA397743917 |
334 | D>G | No |
ClinGen TOPMed |
|
|
rs1183731879 CA397743926 |
334 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 335 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1447888403 CA397743738 |
339 | P>T | No |
ClinGen gnomAD |
|
|
CA8331554 rs565056819 |
340 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA287388074 rs915753635 |
343 | T>I | No |
ClinGen Ensembl |
|
|
CA8331553 rs776529961 |
345 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs768518593 CA8331552 |
345 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1314571754 CA397743453 |
347 | V>M | No |
ClinGen gnomAD |
|
|
rs1064796653 CA16620585 RCV000487285 |
348 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA8331550 rs369412681 |
350 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA397743351 rs1236953307 |
351 | T>K | No |
ClinGen TOPMed |
|
| TCGA novel | 352 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755378873 CA397742745 |
352 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA397743313 rs1320065273 |
352 | K>R | No |
ClinGen gnomAD |
|
|
rs1202144008 CA397742738 |
353 | Y>C | No |
ClinGen gnomAD |
|
|
rs1283687150 CA397742666 |
360 | A>S | No |
ClinGen gnomAD |
|
|
rs1286369245 CA397742658 |
361 | I>V | No |
ClinGen TOPMed |
|
|
rs760586654 CA8331518 |
365 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs760586654 CA8331517 |
365 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1597661181 CA397742617 |
365 | T>P | No |
ClinGen Ensembl |
|
|
CA8331512 rs773383980 |
369 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs770012839 CA8331511 |
371 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs967680871 CA287386607 |
373 | Q>H | No |
ClinGen TOPMed |
|
| TCGA novel | 374 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8331510 rs748256770 |
374 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA397742506 rs1597661075 |
376 | K>E | No |
ClinGen Ensembl |
|
|
rs1250174261 CA397742493 |
377 | F>L | No |
ClinGen TOPMed |
|
|
CA8331507 rs747458897 |
380 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA8331506 rs577535726 |
382 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000519114 rs1555541336 |
389 | T>A | No |
ClinVar dbSNP |
|
| TCGA novel | 394 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000414557 rs1057518299 |
410 | I>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 416 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs866581532 | 430 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1022127944 | 439 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs139005493 | 450 | L>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs745564000 | 479 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001003622 rs1597653264 |
484 | G>missing | No |
ClinVar dbSNP |
|
|
VAR_084750 rs148049520 |
485 | L>R | no effect on localization to plasma membrane; reduced function in citrate transport; increased Km and Vmax values compared with that of wild type with citrate as substrate [UniProt] | No |
UniProt dbSNP |
| TCGA novel | 503 | M>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 518 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 527 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 532 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 541 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 542 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000487218 rs1064796705 |
567 | E>D | No |
ClinVar dbSNP |
|
| TCGA novel | 568 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 569 | T>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
1 associated diseases with Q86YT5
[MIM: 615905]: Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta (DEE25)
An autosomal recessive disease characterized by subclinical seizures appearing in the first days of life, evolving to severe epileptic disease. Affected individuals have profound or severe delayed development with lack of speech, and most patients do not acquire the ability to sit. Additional variable features include axial hypotonia, peripheral hypertonia, and abnormal involuntary movements such as dystonia and choreoathetosis. Dental abnormalities, including delayed eruption, hypodontia, tooth hypoplasia, yellow discoloration, thin enamel, and enamel chipping are observed in most patients. {ECO:0000269|PubMed:24995870, ECO:0000269|PubMed:26384929, ECO:0000269|PubMed:30054523}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disease characterized by subclinical seizures appearing in the first days of life, evolving to severe epileptic disease. Affected individuals have profound or severe delayed development with lack of speech, and most patients do not acquire the ability to sit. Additional variable features include axial hypotonia, peripheral hypertonia, and abnormal involuntary movements such as dystonia and choreoathetosis. Dental abnormalities, including delayed eruption, hypodontia, tooth hypoplasia, yellow discoloration, thin enamel, and enamel chipping are observed in most patients. {ECO:0000269|PubMed:24995870, ECO:0000269|PubMed:26384929, ECO:0000269|PubMed:30054523}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q86YT5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Sodium/sulphate symporter, conserved site | 498 - 514 | IPR031312 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| citrate transmembrane transporter activity | Enables the transfer of citrate, 2-hydroxy-1,2,3-propanetricarboyxlate, from one side of a membrane to the other. |
| identical protein binding | Binding to an identical protein or proteins. |
| organic acid:sodium symporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: organic acid(out) + Na+(out) = organic acid(in) + Na+(in). |
| sodium:dicarboxylate symporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: dicarboxylate(out) + Na+(out) = dicarboxylate(in) + Na+(in). |
| succinate transmembrane transporter activity | Enables the transfer of succinate, the dianion of ethane dicarboxylic acid, from one side of a membrane to the other. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| alpha-ketoglutarate transport | The directed movement of alpha-ketoglutarate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| anion transmembrane transport | The process in which an anion is transported across a membrane. |
| cellular response to lithium ion | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lithium (Li+) ion stimulus. |
| citrate transport | The directed movement of citrate, 2-hydroxy-1,2,3-propanetricarboyxlate, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| fumarate transport | The directed movement of fumarate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| oxaloacetate transport | The directed movement of oxaloacetate, the anion of oxobutanedioic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| succinate transport | The directed movement of succinate, the dianion of ethane dicarboxylic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASALSYVSK | FKSFVILFVT | PLLLLPLVIL | MPAKFVRCAY | VIILMAIYWC | TEVIPLAVTS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LMPVLLFPLF | QILDSRQVCV | QYMKDTNMLF | LGGLIVAVAV | ERWNLHKRIA | LRTLLWVGAK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PARLMLGFMG | VTALLSMWIS | NTATTAMMVP | IVEAILQQME | ATSAATEAGL | ELVDKGKAKE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LPGSQVIFEG | PTLGQQEDQE | RKRLCKAMTL | CICYAASIGG | TATLTGTGPN | VVLLGQMNEL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FPDSKDLVNF | ASWFAFAFPN | MLVMLLFAWL | WLQFVYMRFN | FKKSWGCGLE | SKKNEKAALK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VLQEEYRKLG | PLSFAEINVL | ICFFLLVILW | FSRDPGFMPG | WLTVAWVEGE | TKYVSDATVA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IFVATLLFIV | PSQKPKFNFR | SQTEEERKTP | FYPPPLLDWK | VTQEKVPWGI | VLLLGGGFAL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| AKGSEASGLS | VWMGKQMEPL | HAVPPAAITL | ILSLLVAVFT | ECTSNVATTT | LFLPIFASMS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RSIGLNPLYI | MLPCTLSASF | AFMLPVATPP | NAIVFTYGHL | KVADMVKTGV | IMNIIGVFCV |
| 550 | 560 | ||||
| FLAVNTWGRA | IFDLDHFPDW | ANVTHIET |