Q5T2R2
PR
Gene name |
PDSS1 |
Protein name |
All trans-polyprenyl-diphosphate synthase PDSS1 |
Names |
All-trans-decaprenyl-diphosphate synthase subunit 1, Decaprenyl pyrophosphate synthase subunit 1, Decaprenyl-diphosphate synthase subunit 1, Solanesyl-diphosphate synthase subunit 1, Trans-prenyltransferase 1, TPT 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23590 |
EC number |
2.5.1.91: Transferring alkyl or aryl groups, other than methyl groups |
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 Q5T2R2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5T2R2-F1 | Predicted | AlphaFoldDB |
318 variants for Q5T2R2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000391871 CA5446848 RCV001850583 rs763915931 |
28 | R>L | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA292773 RCV001519121 RCV000625138 rs17855857 RCV000127441 |
30 | G>V | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1834912984 RCV001335652 |
32 | L>M | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10635522 CA205006624 RCV000336100 rs886046933 |
33 | G>R | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000779026 rs1564416478 |
72 | C>missing | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA292764 RCV000270010 RCV000950748 rs77826284 RCV000127435 |
136 | F>C | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001856409 CA5446949 RCV001104473 rs780198984 |
163 | R>H | Variant assessed as Somatic; 0.0 impact. Deafness-encephaloneuropathy-obesity-valvulopathy syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5446958 RCV000440225 rs144149122 RCV002502459 |
185 | D>N | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000676293 rs116424900 RCV000127437 RCV000625410 CA292768 |
197 | K>E | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA376346465 RCV001107236 rs1408544618 |
198 | I>V | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000416390 rs1057519353 |
221 | R>missing | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA320034 RCV000195668 rs142182789 RCV001107237 |
229 | S>C | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001107238 CA5446997 rs142182789 |
229 | S>F | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5447020 RCV003117758 rs376818531 RCV001107239 |
252 | E>Q | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs367783149 RCV000271028 RCV002520576 CA5447048 |
287 | V>A | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002556097 RCV001107240 CA5447047 rs768568415 |
287 | V>M | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_034879 CA376350706 rs119463988 RCV000003393 CA116105 |
308 | D>E | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome COQ10D2 [ClinVar, UniProt] | Yes |
ClinGen gnomAD ClinVar UniProt dbSNP |
|
RCV000330785 CA5447081 rs766516366 RCV002520577 |
314 | S>L | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001862866 CA5447123 RCV001107883 rs752338178 |
367 | V>I | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16044188 rs1057519354 RCV000416401 |
370 | S>R | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001335650 rs1425736863 |
388 | I>missing | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA376488779 rs775269667 |
3 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1172253611 CA376488776 |
3 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs775269667 CA5446846 |
3 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457345892 CA376488787 |
5 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
CA376488803 rs1232289653 |
6 | W>* | No |
ClinGen TOPMed |
|
|
rs868484742 CA205006616 |
7 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs868484742 CA376488806 |
7 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1227021452 CA376488805 |
7 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1220567022 CA376488815 |
8 | W>* | No |
ClinGen TOPMed |
|
|
rs1588662597 CA376488820 |
9 | R>P | No |
ClinGen Ensembl |
|
|
CA376488818 rs1349573336 |
9 | R>W | No |
ClinGen gnomAD |
|
|
CA376488831 rs1233550433 |
11 | G>D | No |
ClinGen gnomAD |
|
|
CA376488838 rs1349152950 |
12 | C>F | No |
ClinGen TOPMed |
|
|
CA376488836 rs1248328476 |
12 | C>G | No |
ClinGen TOPMed |
|
|
rs1349152950 CA376488837 |
12 | C>Y | No |
ClinGen TOPMed |
|
|
rs1240128960 CA376488846 |
13 | S>Y | No |
ClinGen TOPMed |
|
|
rs1337919886 CA376488853 |
14 | W>L | No |
ClinGen TOPMed |
|
|
rs1337919886 CA376488852 |
14 | W>S | No |
ClinGen TOPMed |
|
|
rs1482484479 CA376488885 |
19 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA376488884 rs1482484479 |
19 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1046909649 CA205006617 |
19 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs547509698 CA5446847 |
21 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA376488899 rs547509698 |
21 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs1304415387 CA376488900 |
22 | G>R | No |
ClinGen TOPMed |
|
|
CA376488914 rs1396987887 |
24 | G>D | No |
ClinGen gnomAD |
|
|
rs1002908038 CA205006620 |
24 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
RCV000200331 RCV001853194 rs863224160 CA324888 |
25 | S>F | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA205006621 rs863224160 |
25 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA376488930 rs1361517042 |
27 | G>D | No |
ClinGen gnomAD |
|
|
rs763915931 CA376488936 |
28 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376488942 rs1322375252 |
29 | A>G | No |
ClinGen gnomAD |
|
|
CA376488963 rs1206270382 |
33 | G>E | No |
ClinGen TOPMed |
|
|
CA376488970 rs1308391177 |
34 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA205006625 rs1019966246 |
35 | S>N | No |
ClinGen Ensembl |
|
|
CA376488979 rs1386925817 |
36 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA376488987 rs1310136848 |
37 | A>S | No |
ClinGen gnomAD |
|
|
rs1241624890 CA376488996 |
38 | A>V | No |
ClinGen gnomAD |
|
|
CA376489318 rs1209230580 |
44 | V>A | No |
ClinGen gnomAD |
|
|
rs1466228856 CA376489327 |
45 | H>R | No |
ClinGen gnomAD |
|
|
CA205007126 rs1044364022 |
45 | H>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 47 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778744862 CA205007127 |
47 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
RCV000198460 CA322966 RCV001853193 rs756296695 |
47 | R>W | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA205007128 rs1002847324 |
48 | K>E | No |
ClinGen TOPMed |
|
|
rs1463172108 CA376489678 |
56 | P>H | No |
ClinGen gnomAD |
|
|
rs1246806744 CA376489676 |
56 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA376489674 rs1246806744 |
56 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5446869 rs769708300 |
57 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376489682 rs1316750613 |
57 | Y>N | No |
ClinGen TOPMed |
|
|
rs1477516517 CA376489693 |
58 | I>F | No |
ClinGen gnomAD |
|
|
rs775614206 CA5446870 |
58 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1414686308 CA376489729 |
61 | V>L | No |
ClinGen gnomAD |
|
|
rs1008107279 CA205007404 |
62 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA205007406 rs1031589171 |
63 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA205007405 rs568193349 |
63 | H>Y | No |
ClinGen Ensembl |
|
|
CA376489781 rs1159086264 |
66 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5446871 rs762915129 |
70 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA205007408 rs952111808 |
71 | V>E | No |
ClinGen Ensembl |
|
|
CA376489852 rs1330717094 |
73 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
RCV002519564 RCV000438694 rs759788602 CA5446874 |
73 | R>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA376489857 rs759788602 |
73 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 74 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 76 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376489874 rs767853330 |
76 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753051018 CA5446876 |
76 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs767853330 CA5446875 |
76 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410205293 CA376489950 |
79 | H>R | No |
ClinGen gnomAD |
|
|
CA376489974 rs1333892277 |
82 | P>T | No |
ClinGen gnomAD |
|
|
rs1355072804 CA376489992 |
83 | D>E | No |
ClinGen gnomAD |
|
|
rs372198028 CA5446891 |
83 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5446890 rs770801485 |
83 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA376490007 rs1588670300 |
85 | K>E | No |
ClinGen Ensembl |
|
|
CA205007458 rs200378711 |
86 | T>A | No |
ClinGen 1000Genomes |
|
|
CA205007459 rs556812437 |
86 | T>I | No |
ClinGen 1000Genomes |
|
|
COSM465560 rs767836815 CA376490034 |
87 | H>Q | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA5446892 rs759699529 |
87 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs761088745 CA5446895 |
89 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5446896 rs147126048 |
90 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA205007460 rs895213816 |
91 | K>Q | No |
ClinGen gnomAD |
|
|
rs1188890992 CA376490083 |
92 | Y>F | No |
ClinGen gnomAD |
|
|
rs1188890992 CA376490079 |
92 | Y>S | No |
ClinGen gnomAD |
|
|
CA5446898 rs757716598 |
93 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5446900 rs138469089 |
94 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA205007461 rs1014116468 |
97 | K>R | No |
ClinGen gnomAD |
|
|
CA376490135 rs1014116468 |
97 | K>T | No |
ClinGen gnomAD |
|
|
CA5446902 rs780795590 |
98 | L>F | No |
ClinGen ExAC |
|
|
rs1357685009 CA376490152 |
98 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA376490154 rs1397668460 |
99 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5446905 rs777579681 |
99 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243137674 CA376490171 |
100 | W>* | No |
ClinGen gnomAD |
|
|
CA376490169 rs1374752915 |
100 | W>L | No |
ClinGen TOPMed |
|
|
rs1279433333 CA376490211 |
105 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 109 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5446907 rs770840913 |
112 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs766969099 CA5446922 |
113 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA205007998 rs1035227072 |
115 | L>V | No |
ClinGen TOPMed |
|
|
rs1434045545 CA376490652 |
116 | I>L | No |
ClinGen gnomAD |
|
|
rs752239214 CA5446923 |
118 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA205007999 rs889074680 |
122 | K>E | No |
ClinGen Ensembl |
|
|
CA376490707 rs1346701368 |
124 | M>T | No |
ClinGen gnomAD |
|
|
rs1161314148 CA376490712 |
125 | S>T | No |
ClinGen gnomAD |
|
|
CA205008000 rs746132971 |
129 | F>S | No |
ClinGen TOPMed |
|
|
rs371936975 CA5446924 |
131 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5446925 rs749092951 |
137 | R>* | Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1369266609 CA376490798 |
137 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1564419795 RCV000723260 CA376490805 |
138 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1398541091 CA376490801 |
138 | P>T | No |
ClinGen TOPMed |
|
|
rs374916343 CA5446927 |
139 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376490818 rs1344055972 |
140 | I>T | No |
ClinGen gnomAD |
|
|
rs745848548 CA5446928 |
142 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213721016 CA376490839 |
144 | M>T | No |
ClinGen gnomAD |
|
|
rs775644895 CA5446930 |
144 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369956660 CA5446931 |
146 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs768910609 CA5446932 |
149 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA376490906 rs1479321350 |
152 | H>R | No |
ClinGen gnomAD |
|
|
CA376490918 rs1412616327 |
153 | N>S | No |
ClinGen gnomAD |
|
|
rs776786172 CA5446935 |
156 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376490946 rs1231074655 |
156 | R>Q | No |
ClinGen gnomAD |
|
|
rs1328819272 CA376345878 |
157 | H>D | No |
ClinGen gnomAD |
|
|
rs1419746832 CA376345885 |
158 | V>M | No |
ClinGen TOPMed |
|
|
CA204403380 rs969248593 |
159 | Q>H | No |
ClinGen Ensembl |
|
|
CA376345899 rs1588686840 |
160 | A>P | No |
ClinGen Ensembl |
|
|
CA376345907 rs1334483288 |
161 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA204403381 rs1002472641 |
162 | Q>H | No |
ClinGen Ensembl |
|
|
rs758353274 CA5446948 |
163 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374748493 CA5446952 |
164 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs374748493 CA5446951 |
164 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1462644033 CA376345933 |
165 | I>M | No |
ClinGen TOPMed |
|
|
CA376345934 rs1231657717 |
166 | A>T | No |
ClinGen gnomAD |
|
|
CA376346118 rs1256082411 |
174 | T>A | No |
ClinGen TOPMed |
|
|
rs1245333571 CA376346191 |
179 | H>R | No |
ClinGen gnomAD |
|
|
rs1380579879 CA376346182 |
179 | H>Y | No |
ClinGen gnomAD |
|
|
rs771418338 CA5446956 |
182 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA204403382 rs758101398 |
182 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA204403383 rs1055367473 |
184 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5446959 rs763562554 |
187 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA376346335 rs1240734797 |
189 | R>* | No |
ClinGen gnomAD |
|
|
rs1240734797 CA376346332 |
189 | R>G | No |
ClinGen gnomAD |
|
|
rs569304206 CA204403385 |
192 | K>R | No |
ClinGen TOPMed |
|
|
rs540043853 CA204403386 |
194 | T>A | No |
ClinGen Ensembl |
|
|
rs1168864884 CA376346431 |
196 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 197 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 202 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA204403388 rs148661087 |
203 | K>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5446961 rs764994361 |
203 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs750139650 CA5446986 |
205 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs955387013 CA204403753 |
209 | D>N | No |
ClinGen TOPMed |
|
|
CA376348111 rs1378734247 |
211 | I>V | No |
ClinGen TOPMed |
|
|
CA376348118 rs766225494 |
212 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5446988 rs766225494 |
212 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 213 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs539544394 CA204403754 |
214 | A>V | No |
ClinGen TOPMed |
|
|
CA376348141 rs1327562567 |
216 | S>T | No |
ClinGen gnomAD |
|
|
rs751398436 CA204403755 |
217 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1205192026 CA376348149 |
217 | I>M | No |
ClinGen gnomAD |
|
|
CA5446989 rs751398436 |
217 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767499454 CA5446991 |
221 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs539771162 CA5446992 COSM2134151 |
221 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5446993 rs756256267 |
222 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs556322043 CA376348215 |
225 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5446995 rs749563133 |
225 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs556322043 CA5446994 |
225 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA376348251 rs1473236456 |
228 | I>T | No |
ClinGen gnomAD |
|
|
rs569930456 CA5446996 |
228 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 230 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376348285 rs199537227 |
231 | L>V | No |
ClinGen 1000Genomes TOPMed |
|
|
CA376348302 rs1189410952 |
232 | T>S | No |
ClinGen TOPMed |
|
|
CA5446999 rs772401573 |
232 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA5447000 rs776130445 |
233 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs747629664 CA5447001 |
235 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151201490 CA5447002 |
236 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs190035468 CA5447003 |
238 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA376348399 rs1278404579 |
239 | V>G | No |
ClinGen gnomAD |
|
|
rs1239685419 CA376348390 |
239 | V>M | No |
ClinGen gnomAD |
|
|
COSM917349 CA5447004 rs762651649 |
240 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs140972175 CA5447005 |
240 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1333948383 CA376348478 |
243 | F>S | No |
ClinGen gnomAD |
|
|
CA376348541 rs1315207621 |
247 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 248 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376348601 rs1243361887 |
250 | E>Q | No |
ClinGen gnomAD |
|
|
rs145758711 CA320801 RCV001705129 |
254 | E>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 255 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376348797 rs1588691096 |
259 | Y>S | No |
ClinGen Ensembl |
|
|
rs770472652 CA5447021 |
260 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA5447022 rs774123873 |
261 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA204403763 rs964750645 |
263 | T>I | No |
ClinGen Ensembl |
|
|
rs886154682 CA204403764 |
264 | F>L | No |
ClinGen TOPMed |
|
|
CA376348992 rs1184227692 |
267 | T>I | No |
ClinGen gnomAD |
|
|
CA5447024 rs767397399 |
268 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA376349041 rs1170737186 |
269 | S>G | No |
ClinGen gnomAD |
|
|
rs1391071916 CA376349094 |
271 | I>M | No |
ClinGen gnomAD |
|
|
CA376349091 rs1265216207 |
271 | I>R | No |
ClinGen TOPMed |
|
|
rs114789288 CA204403766 |
274 | S>N | No |
ClinGen 1000Genomes |
|
|
rs1462276180 CA376349205 |
277 | A>V | No |
ClinGen gnomAD |
|
|
rs778411730 CA5447042 |
278 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA5447043 rs745477727 |
280 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1267456285 CA376350524 |
282 | G>A | No |
ClinGen gnomAD |
|
|
rs1588702784 CA376350529 |
283 | C>Y | No |
ClinGen Ensembl |
|
|
CA204408378 rs369844695 |
284 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA376350535 rs1368558321 |
284 | P>S | No |
ClinGen gnomAD |
|
|
CA5447046 rs147864501 |
285 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 286 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376350553 rs768568415 |
287 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761776627 CA5447049 |
288 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 290 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1386693230 CA376350577 |
291 | I>L | No |
ClinGen gnomAD |
|
|
rs765310423 COSM1474571 CA5447050 |
292 | A>T | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA204408409 rs772901240 |
293 | Y>C | No |
ClinGen Ensembl |
|
|
CA204408423 rs1038764495 |
294 | Q>H | No |
ClinGen Ensembl |
|
|
rs1240525421 CA376350613 |
296 | G>E | No |
ClinGen Ensembl |
|
|
CA5447052 rs763165754 |
296 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1242659783 CA376350621 |
297 | K>R | No |
ClinGen TOPMed |
|
|
CA376350630 rs762662757 |
298 | N>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 298 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5447053 rs766719266 |
298 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1389734464 CA376350633 |
299 | V>I | No |
ClinGen gnomAD |
|
|
rs751955353 CA5447054 |
301 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs756579797 CA5447077 |
306 | I>K | No |
ClinGen ExAC gnomAD |
|
|
CA376350690 rs756579797 |
306 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA5447076 rs753037428 |
306 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1240874118 CA376350693 |
307 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA376350705 rs764524954 |
308 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA5447078 rs764524954 |
308 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1419289593 CA376350707 |
309 | V>I | No |
ClinGen gnomAD |
|
|
CA376350728 rs1280077774 |
312 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1280077774 CA376350729 |
312 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA376350739 rs757970690 |
313 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA5447080 rs757970690 |
313 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA376350750 rs1334861651 |
315 | C>F | No |
ClinGen gnomAD |
|
|
CA376350763 rs1347125519 |
317 | D>V | No |
ClinGen gnomAD |
|
|
rs754654692 CA5447083 |
319 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361035362 CA376350791 |
321 | K>E | No |
ClinGen gnomAD |
|
|
RCV000199161 rs863224163 |
323 | T>missing | No |
ClinVar dbSNP |
|
|
rs780896171 CA5447084 |
323 | T>A | No |
ClinGen ExAC gnomAD |
|
|
RCV000505918 rs370033107 CA5447085 |
323 | T>I | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1324269384 CA376350820 |
326 | D>N | No |
ClinGen gnomAD |
|
|
CA376350822 rs1324269384 |
326 | D>Y | No |
ClinGen gnomAD |
|
|
CA376350832 rs1202426206 |
327 | L>R | No |
ClinGen gnomAD |
|
|
CA5447087 rs773085493 |
330 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 333 | T>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1241209350 CA376350882 |
335 | P>L | No |
ClinGen gnomAD |
|
|
CA5447116 rs775642132 |
343 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA5447118 rs768853545 |
346 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs201449543 CA204412279 |
349 | M>T | No |
ClinGen 1000Genomes |
|
|
CA376351038 rs1340628752 |
349 | M>V | No |
ClinGen gnomAD |
|
|
CA5447120 rs570070193 |
351 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5447119 CA376351070 rs777085672 |
351 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA376351069 rs777085672 |
351 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759262938 CA204412291 |
352 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA322739 rs116148064 |
352 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA319778 rs759110650 |
353 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs751052685 CA5447121 |
353 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs943748542 CA204412315 |
360 | V>A | No |
ClinGen TOPMed |
|
|
rs1374612119 CA376351230 |
363 | A>T | No |
ClinGen gnomAD |
|
|
CA376351243 rs1052709646 |
364 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA204412318 rs1052709646 |
364 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs767162524 CA376351246 |
364 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs767162524 CA5447122 |
364 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA376351264 rs1398074206 |
365 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA376351276 rs1339330559 |
366 | Y>C | No |
ClinGen TOPMed |
|
|
CA376351290 rs1336882659 |
367 | V>A | No |
ClinGen gnomAD |
|
|
rs1320634765 CA376351316 |
369 | Q>H | No |
ClinGen gnomAD |
|
|
CA5447156 rs779930386 |
370 | S>N | No |
ClinGen ExAC |
|
|
CA376352071 rs1402581481 COSM917351 |
371 | D>E | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs747125868 CA5447157 |
374 | Q>* | No |
ClinGen ExAC |
|
|
rs1260806118 CA376352125 |
376 | T>P | No |
ClinGen gnomAD |
|
|
CA5447158 rs758061713 |
377 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs781457293 CA376352153 |
378 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
COSM267160 CA5447160 rs748477018 |
380 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5447161 rs770190130 |
383 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA376352250 rs1418722010 |
385 | H>Q | No |
ClinGen gnomAD |
|
|
rs1363963633 CA376352246 |
385 | H>R | No |
ClinGen gnomAD |
|
|
CA5447162 rs115687408 |
386 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749721462 CA5447163 |
388 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 389 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5447164 rs771476505 |
390 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774809733 CA5447165 |
392 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA376352350 rs1393199732 |
392 | S>T | No |
ClinGen gnomAD |
|
|
rs760294360 CA5447166 |
394 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs975467562 CA204414847 |
395 | R>* | No |
ClinGen gnomAD |
|
|
rs1307231625 CA376352387 |
395 | R>Q | No |
ClinGen gnomAD |
|
|
rs112661893 CA204414856 |
396 | P>T | No |
ClinGen Ensembl |
|
|
rs922702614 CA204414861 |
397 | S>P | No |
ClinGen Ensembl |
|
|
rs763649433 CA5447167 |
398 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 398 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761681069 CA5447169 |
402 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5447171 rs750246191 |
404 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5447172 rs574624767 |
405 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA376352497 rs1178367550 |
409 | I>T | No |
ClinGen gnomAD |
|
|
CA204414886 rs999754695 |
412 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs999754695 CA204414885 |
412 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1389474344 CA376352514 |
412 | T>S | No |
ClinGen TOPMed |
|
|
rs1482968873 CA376352527 |
414 | D>G | No |
ClinGen TOPMed |
|
|
rs1176368750 CA376352524 |
414 | D>H | No |
ClinGen gnomAD |
|
|
rs751585593 CA5447175 |
415 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758471892 CA5447173 |
415 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138571988 CA5447178 |
416 | K>S | No |
ClinGen ESP ExAC gnomAD |
1 associated diseases with Q5T2R2
[MIM: 614651]: Coenzyme Q10 deficiency, primary, 2 (COQ10D2)
An autosomal recessive multisystem disorder characterized by early-onset deafness, optic atrophy, mild intellectual disability, peripheral neuropathy, obesity, livedo reticularis, and cardiac valvulopathy. {ECO:0000269|PubMed:17332895}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive multisystem disorder characterized by early-onset deafness, optic atrophy, mild intellectual disability, peripheral neuropathy, obesity, livedo reticularis, and cardiac valvulopathy. {ECO:0000269|PubMed:17332895}. Note=The disease is caused by variants affecting the gene represented in this entry.
2 regional properties for Q5T2R2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Polyprenyl synthetase, conserved site | 177 - 191 | IPR033749-1 |
| conserved_site | Polyprenyl synthetase, conserved site | 299 - 311 | IPR033749-2 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.5.1.91 | Transferring alkyl or aryl groups, other than methyl groups |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| mitochondrial matrix | The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. |
| transferase complex | A protein complex capable of catalyzing the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| all-trans-decaprenyl-diphosphate synthase activity | Catalysis of the reaction: 2-trans,6-trans-farnesyl diphosphate + 7 isopentenyl diphosphate = 7 diphosphate + all-trans-decaprenyl diphosphate. |
| metal ion binding | Binding to a metal ion. |
| prenyltransferase activity | Catalysis of the transfer of a prenyl group from one compound (donor) to another (acceptor). |
| protein heterodimerization activity | Binding to a nonidentical protein to form a heterodimer. |
| trans-hexaprenyltranstransferase activity | Catalysis of the reaction: (2E,6E)-farnesyl diphosphate + 4 isopentenyl diphosphate = 4 diphosphate + all-trans-heptaprenyl diphosphate. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| isoprenoid biosynthetic process | The chemical reactions and pathways resulting in the formation of an isoprenoid compound, isoprene (2-methylbuta-1,3-diene) or compounds containing or derived from linked isoprene (3-methyl-2-butenylene) residues. |
| ubiquinone biosynthetic process | The chemical reactions and pathways resulting in the formation of ubiquinone, a lipid-soluble electron-transporting coenzyme. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASRWWRWRR | GCSWKPAARS | PGPGSPGRAG | PLGPSAAAEV | RAQVHRRKGL | DLSQIPYINL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VKHLTSACPN | VCRISRFHHT | TPDSKTHSGE | KYTDPFKLGW | RDLKGLYEDI | RKELLISTSE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LKEMSEYYFD | GKGKAFRPII | VALMARACNI | HHNNSRHVQA | SQRAIALIAE | MIHTASLVHD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DVIDDASSRR | GKHTVNKIWG | EKKAVLAGDL | ILSAASIALA | RIGNTTVISI | LTQVIEDLVR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GEFLQLGSKE | NENERFAHYL | EKTFKKTASL | IANSCKAVSV | LGCPDPVVHE | IAYQYGKNVG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IAFQLIDDVL | DFTSCSDQMG | KPTSADLKLG | LATGPVLFAC | QQFPEMNAMI | MRRFSLPGDV |
| 370 | 380 | 390 | 400 | 410 | |
| DRARQYVLQS | DGVQQTTYLA | QQYCHEAIRE | ISKLRPSPER | DALIQLSEIV | LTRDK |