Q86SQ9
PR
Gene name |
DHDDS |
Protein name |
Dehydrodolichyl diphosphate synthase complex subunit DHDDS |
Names |
Cis-isoprenyltransferase, CIT, Cis-IPTase, Cis-prenyltransferase subunit hCIT, Epididymis tissue protein Li 189m |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79947 |
EC number |
2.5.1.87: 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
270 variants for Q86SQ9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs2075118494 RCV001303725 |
7 | G>E | Retinitis pigmentosa 59 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001229845 rs922422245 CA19768725 RCV001095893 |
18 | N>S | Retinitis pigmentosa 59 Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA705240 RCV001302803 rs372070142 |
22 | A>V | Retinitis pigmentosa 59 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2075180906 RCV001317360 |
29 | I>V | Retinitis pigmentosa 59 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001577222 RCV001880122 RCV001266622 rs2075181154 |
35 | G>E | Retinitis pigmentosa 59 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553121073 RCV000519248 RCV001858011 RCV000578122 VAR_080708 CA339138678 |
37 | R>H | Retinitis pigmentosa 59 Developmental delay and seizures with or without movement abnormalities DEDSM; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA339138692 rs1570332505 RCV000995533 |
38 | R>H | Developmental delay and seizures with or without movement abnormalities [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs147394623 RCV001354833 VAR_065356 CA259894 RCV000023687 RCV000762902 RCV000778978 |
42 | K>E | Retinitis pigmentosa 59 Retinitis pigmentosa Retinitis pigmentosa 59 (rp59) Retinitis pigmentosa (rp) RP59; 5-fold reduction in catalytic activity and reduced affinity for FPP but not for IPP. [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000297294 rs149949619 RCV000886316 CA705247 COSM1341363 RCV000322201 |
47 | R>Q | Retinitis pigmentosa 59 Retinitis pigmentosa large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1057515434 CA10610929 RCV000374574 |
53 | Q>E | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000578125 CA339140083 rs1553121545 |
64 | W>* | Congenital disorder of glycosylation, type Ibb [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA705281 rs773154382 RCV000704528 |
91 | D>H | Retinitis pigmentosa 59 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA705283 rs766371067 RCV001321972 |
92 | G>R | Retinitis pigmentosa 59 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs754564043 RCV002481804 CA705285 RCV001003005 RCV001862719 |
98 | R>W | Retinitis pigmentosa 59 Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs755746499 RCV001295530 CA705288 |
100 | K>R | Retinitis pigmentosa 59 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001207675 rs755746499 |
100 | K>T | Retinitis pigmentosa 59 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA705291 rs762393542 RCV001051780 |
103 | R>C | Retinitis pigmentosa 59 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA705292 RCV001341105 rs115712846 |
103 | R>H | Retinitis pigmentosa 59 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA705317 RCV001239613 rs144046776 |
113 | K>N | Retinitis pigmentosa 59 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001301115 CA705324 rs372256981 |
129 | L>F | Retinitis pigmentosa 59 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001296022 rs2075268700 |
133 | E>D | Retinitis pigmentosa 59 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA705353 RCV001317792 rs369429285 COSM51606 |
159 | R>H | Retinitis pigmentosa 59 breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA339143293 RCV001211277 rs1429544868 |
164 | N>S | Retinitis pigmentosa 59 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs778754350 RCV001198629 CA705404 |
195 | N>T | Retinitis pigmentosa 59 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001855771 RCV000732348 CA339144685 rs1288778858 |
198 | P>S | Retinitis pigmentosa 59 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001246321 CA339144731 rs1196016348 |
202 | I>V | Retinitis pigmentosa 59 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
VAR_085035 RCV002233230 RCV001539674 RCV000691673 CA339144756 rs1557447255 |
205 | R>Q | Retinitis pigmentosa 59 Developmental delay and seizures with or without movement abnormalities found in a patient with progressive myoclonus epilepsy; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001172209 CA339144815 VAR_080709 RCV001853833 rs1553122926 RCV000578123 |
211 | R>Q | Retinitis pigmentosa 59 Developmental delay and seizures with or without movement abnormalities DEDSM; also found in a patient with progressive myoclonus epilepsy and developmental delay; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA705435 RCV001044811 rs763763588 |
236 | T>S | Retinitis pigmentosa 59 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000316405 CA10610854 rs1057515468 |
237 | F>C | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1258300851 RCV001329382 |
237 | F>L | Developmental delay and seizures with or without movement abnormalities [ClinVar] | Yes |
ClinVar dbSNP |
|
CA339145254 RCV003145244 COSM256756 RCV000985124 rs1229969030 |
242 | E>K | Retinitis pigmentosa 59 Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000838160 VAR_028088 RCV000373487 CA705442 RCV001537673 rs3816539 RCV001277164 |
253 | V>M | Retinitis pigmentosa 59 Retinitis pigmentosa Developmental delay and seizures with or without movement abnormalities [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1057515435 RCV000295404 CA10610930 |
259 | D>N | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001097675 rs771106680 CA705467 |
265 | R>Q | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001248180 rs182263884 |
273 | D>N | Retinitis pigmentosa 59 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA705469 RCV002541605 rs182263884 RCV001263261 |
273 | D>Y | Retinitis pigmentosa 59 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP |
|
RCV000352641 rs775810457 CA705471 |
282 | L>P | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs761750566 CA705473 RCV001206509 |
283 | R>Q | Retinitis pigmentosa 59 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA19777138 RCV001050034 rs919843886 |
298 | R>C | Retinitis pigmentosa 59 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA705483 RCV001099448 RCV000799535 rs778103040 RCV003144612 |
298 | R>P | Retinitis pigmentosa 59 Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001236635 rs779438727 CA705485 |
302 | L>F | Retinitis pigmentosa 59 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001532941 RCV001355627 RCV002540223 CA705486 RCV000904699 RCV001099449 rs141852437 |
303 | S>L | Retinitis pigmentosa 59 Retinitis pigmentosa Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002520485 RCV000386265 CA705491 rs543487813 |
306 | R>Q | Retinitis pigmentosa 59 Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001062572 CA705492 rs762740714 |
307 | E>Q | Retinitis pigmentosa 59 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001280073 rs2075524191 |
308 | E>K | Retinitis pigmentosa 59 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA705501 rs562974074 RCV001248204 |
321 | R>Q | Retinitis pigmentosa 59 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA705507 RCV002537009 rs780269059 RCV000795814 |
327 | R>H | Retinitis pigmentosa 59 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA339136994 rs1246457011 |
2 | S>P | No |
ClinGen gnomAD |
|
|
rs1570325163 CA339137006 |
3 | W>C | No |
ClinGen Ensembl |
|
|
CA705215 rs764499881 |
4 | I>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 5 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA705216 rs777046093 |
8 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1415428953 CA339137037 |
8 | E>Q | No |
ClinGen TOPMed |
|
|
CA705218 rs762378773 |
9 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA339137051 rs1477363877 |
10 | S>* | No |
ClinGen gnomAD |
|
|
rs1429309776 CA339137077 |
14 | R>G | No |
ClinGen gnomAD |
|
|
CA339137099 rs1470680563 |
17 | A>T | No |
ClinGen gnomAD |
|
|
CA339137116 rs981419090 |
19 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs955247503 CA19768727 |
20 | I>V | No |
ClinGen gnomAD |
|
|
rs751817404 CA339138464 |
25 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751817404 CA705241 |
25 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339138459 rs1263173915 |
25 | M>V | No |
ClinGen gnomAD |
|
|
CA339138487 rs1347376529 |
26 | P>L | No |
ClinGen gnomAD |
|
|
rs753675432 CA705244 |
28 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA705243 rs763849890 |
28 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA19769793 rs1050765580 |
30 | A>V | No |
ClinGen TOPMed |
|
|
CA339138573 rs1281509733 |
31 | F>L | No |
ClinGen gnomAD |
|
|
RCV000658018 CA339138675 rs1553121072 |
37 | R>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA339138709 rs1429550781 |
39 | Y>F | No |
ClinGen gnomAD |
|
|
CA339138744 rs1209660258 |
41 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 45 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA705246 rs750366746 |
47 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA19769804 rs1057088171 |
48 | Q>H | No |
ClinGen gnomAD |
|
|
CA19769802 rs938589146 |
48 | Q>R | No |
ClinGen Ensembl |
|
|
rs779708363 CA705248 |
49 | E>* | No |
ClinGen ExAC |
|
|
rs746699062 CA705249 |
49 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA19769809 rs200121877 |
52 | S>L | No |
ClinGen Ensembl |
|
|
rs1359336652 CA339138929 |
53 | Q>R | No |
ClinGen Ensembl |
|
|
rs768368890 CA705250 |
56 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1452121062 CA339140073 |
62 | L>P | No |
ClinGen gnomAD |
|
|
rs747732826 CA705270 |
63 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs148606976 CA705269 |
63 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs756507508 CA705271 |
64 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA705272 rs371438310 |
65 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339140099 rs1308665778 |
66 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA339140121 rs1253678123 |
70 | I>L | No |
ClinGen gnomAD |
|
| TCGA novel | 75 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339140164 rs1297415691 |
76 | Y>H | No |
ClinGen gnomAD |
|
|
rs1187750662 COSM907670 CA339140181 |
77 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA705276 rs745986577 |
77 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA705278 rs775824004 |
80 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA19770395 rs1044796085 |
80 | I>T | No |
ClinGen Ensembl |
|
|
rs1375951965 CA339140291 |
83 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA339140294 rs1375951965 |
83 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs775005256 CA19770396 |
84 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 85 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760975808 CA705279 |
87 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs765184169 CA705280 |
87 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs201045286 CA339140421 |
91 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA19770397 rs1003282188 |
92 | G>V | No |
ClinGen Ensembl |
|
|
CA339140444 rs1384358284 |
93 | L>F | No |
ClinGen gnomAD |
|
|
rs1299843641 CA339140489 |
95 | D>A | No |
ClinGen gnomAD |
|
|
CA19770398 rs1014708339 |
95 | D>E | No |
ClinGen gnomAD |
|
| VAR_085034 | 95 | D>N | found in a patient with progressive myoclonus epilepsy; unknown pathological significance [UniProt] | No | UniProt |
|
rs754564043 CA705286 |
98 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752459219 CA705287 |
98 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA705289 rs558022297 |
102 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA705290 rs749687768 |
102 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs368777591 CA705316 |
110 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1451080797 CA339142370 |
115 | G>E | No |
ClinGen Ensembl |
|
|
rs1305500892 CA339142362 |
115 | G>R | No |
ClinGen gnomAD |
|
|
CA19772230 rs994585545 |
118 | I>T | No |
ClinGen TOPMed |
|
|
rs1238106279 CA339142421 |
118 | I>V | No |
ClinGen TOPMed |
|
|
rs748347461 CA705318 |
119 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1360739054 CA339142439 |
119 | R>W | No |
ClinGen TOPMed |
|
|
rs140565871 CA705321 |
123 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339142505 rs140565871 |
123 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771905438 CA339142524 |
124 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1248022004 CA339142537 |
125 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA339142533 rs1233168370 |
125 | H>Y | No |
ClinGen TOPMed |
|
|
CA705323 rs775361226 |
126 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1363196858 CA339142593 |
129 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA19772240 rs1018882817 |
130 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1203971865 CA339142682 |
133 | E>G | No |
ClinGen gnomAD |
|
|
rs200277808 CA705325 |
135 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138350234 CA19772241 |
136 | A>V | No |
ClinGen ESP TOPMed |
|
|
CA339142768 rs1356542583 |
137 | Q>H | No |
ClinGen TOPMed |
|
|
rs1171354583 CA339142763 |
137 | Q>R | No |
ClinGen TOPMed |
|
|
CA705326 rs753558346 |
139 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs146277932 CA705327 |
140 | Q>E | No |
ClinGen ESP ExAC |
|
|
CA339142832 rs376339020 |
141 | A>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA705328 rs764886771 |
141 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA705329 rs376339020 |
141 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA705330 rs758751596 |
142 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1408851331 CA339142855 |
143 | K>E | No |
ClinGen gnomAD |
|
|
rs752088432 CA705332 |
143 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs755149113 CA705333 |
144 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA19772247 rs947016017 |
145 | Y>H | No |
ClinGen Ensembl |
|
|
CA339142936 rs1445287933 |
147 | K>Q | No |
ClinGen gnomAD |
|
|
CA705334 rs201280820 |
147 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752178339 CA705349 |
149 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339143083 rs1271877493 |
149 | F>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 149 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339143121 rs1221817690 |
152 | V>I | No |
ClinGen gnomAD |
|
|
CA19772555 rs1042805853 |
154 | F>S | No |
ClinGen gnomAD |
|
|
CA705352 rs752722280 |
159 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752722280 CA339143208 |
159 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA705354 rs369429285 COSM366890 |
159 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
COSM1341364 CA339143210 rs752722280 |
159 | R>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA705355 rs753960562 |
160 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA339143259 rs1198130816 |
162 | I>T | No |
ClinGen gnomAD |
|
|
rs1380154654 CA339143283 |
164 | N>H | No |
ClinGen TOPMed |
|
|
rs779814399 CA705357 |
165 | A>S | No |
ClinGen ExAC gnomAD |
|
|
COSM907672 rs1383907275 CA339143311 |
165 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1176720477 CA339143336 |
168 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1176720477 CA339143338 |
168 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs746749832 CA705358 |
170 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1320182117 CA339143377 |
171 | W>G | No |
ClinGen gnomAD |
|
|
rs367557625 CA19772564 |
171 | W>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs367557625 CA705359 |
171 | W>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA339143392 rs1403178101 |
172 | G>W | No |
ClinGen gnomAD |
|
|
RCV001172208 rs2075282182 |
173 | V>A | No |
ClinVar dbSNP |
|
| rs1272594778 | 173 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA19772568 rs375903302 |
174 | E>K | No |
ClinGen ESP |
|
|
rs1225532645 CA339143432 |
175 | Q>R | No |
ClinGen gnomAD |
|
|
rs1287822540 CA339143492 |
180 | P>L | No |
ClinGen TOPMed |
|
|
CA705362 rs769323514 |
181 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1294679503 CA339144525 |
183 | I>L | No |
ClinGen TOPMed |
|
|
rs367964869 CA705399 |
184 | S>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA705400 rs756090062 |
186 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA339144589 rs1262390450 |
189 | D>G | No |
ClinGen gnomAD |
|
|
CA705402 rs748833924 |
189 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs986577003 CA19774792 |
192 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1310199926 CA339144638 |
193 | Y>C | No |
ClinGen TOPMed |
|
|
rs778754350 CA339144661 |
195 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339144667 rs1427295345 |
196 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA19774796 rs912516570 |
196 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA705406 rs772379835 |
197 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA339144683 rs1288778858 |
198 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1047455657 CA19774804 |
198 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 200 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339144707 rs1385971219 |
200 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1386391151 CA339144718 |
201 | D>N | No |
ClinGen gnomAD |
|
|
rs887553803 CA19774808 |
204 | I>M | No |
ClinGen Ensembl |
|
|
CA705408 rs780598237 |
210 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1414247056 CA339144862 |
215 | F>S | No |
ClinGen TOPMed |
|
|
rs1006046545 CA19774814 |
218 | W>R | No |
ClinGen Ensembl |
|
|
CA705429 rs769918203 |
220 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1176847215 CA339145015 |
221 | S>C | No |
ClinGen gnomAD |
|
|
rs1249404902 CA339145010 |
221 | S>P | No |
ClinGen TOPMed |
|
|
rs1251624724 CA339145019 |
222 | H>Y | No |
ClinGen gnomAD |
|
|
rs773292741 CA705430 |
227 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs762874432 CA705431 |
228 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1424726101 CA339145102 |
229 | P>S | No |
ClinGen gnomAD |
|
|
CA705433 rs143075758 |
230 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372352032 CA705434 |
231 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA339145183 rs1450247661 |
236 | T>I | No |
ClinGen gnomAD |
|
|
CA19775240 rs1038914770 |
241 | F>C | No |
ClinGen gnomAD |
|
|
rs375378756 CA339145247 |
241 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339145284 rs1305856826 |
245 | L>V | No |
ClinGen gnomAD |
|
|
rs749988590 CA705439 |
247 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA339145301 rs1167039995 |
247 | F>Y | No |
ClinGen TOPMed |
|
|
rs373118655 CA705440 |
250 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA19775251 rs565600867 |
252 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs980888877 CA19775254 |
254 | L>F | No |
ClinGen TOPMed |
|
|
rs755439760 CA705443 |
254 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781521085 CA705444 |
255 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA339145500 rs1300986996 |
256 | K>E | No |
ClinGen Ensembl |
|
|
rs981664991 CA19777101 |
257 | A>G | No |
ClinGen gnomAD |
|
|
rs981664991 CA339145511 |
257 | A>V | No |
ClinGen gnomAD |
|
|
CA339145513 rs1267608571 |
258 | R>* | No |
ClinGen gnomAD |
|
|
rs150585934 CA705465 |
258 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19777106 rs867770558 |
259 | D>E | No |
ClinGen Ensembl |
|
|
CA339145523 rs1221427187 |
260 | M>V | No |
ClinGen TOPMed |
|
|
CA339145536 rs1262788062 |
261 | Y>C | No |
ClinGen TOPMed |
|
|
CA19777108 rs373218553 |
264 | E>K | No |
ClinGen ESP TOPMed |
|
|
rs749723641 CA705466 |
265 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1180408059 CA339145578 |
268 | Q>K | No |
ClinGen gnomAD |
|
|
rs1557455285 CA339145611 |
272 | R>M | No |
ClinGen Ensembl |
|
|
rs1162665829 CA339145613 |
272 | R>S | No |
ClinGen gnomAD |
|
|
rs1446489827 CA339145634 |
275 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 280 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761750566 CA705472 |
283 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1448050850 CA339145685 |
284 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 284 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs532852362 CA705474 |
285 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA705475 rs762788261 |
286 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1193686226 CA339145718 |
289 | S>I | No |
ClinGen gnomAD |
|
|
CA339145720 rs1570370878 |
289 | S>R | No |
ClinGen Ensembl |
|
|
CA705479 rs759006198 |
291 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1570370899 CA339145731 |
291 | D>G | No |
ClinGen Ensembl |
|
|
rs1458034796 CA339145727 |
291 | D>N | No |
ClinGen gnomAD |
|
|
CA705480 rs376234168 |
292 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339145747 rs1159937046 |
294 | L>F | No |
ClinGen TOPMed |
|
|
CA705481 rs756507458 |
295 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778103040 CA705482 |
298 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA705484 rs757711935 |
300 | H>P | No |
ClinGen ExAC |
|
|
rs1399920424 CA339145799 |
302 | L>R | No |
ClinGen gnomAD |
|
| TCGA novel | 303 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339145801 rs1173800083 |
303 | S>P | No |
ClinGen gnomAD |
|
|
rs543487813 CA339145819 |
306 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs139109356 CA705490 |
306 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339145845 rs1271715523 |
309 | R>* | No |
ClinGen TOPMed |
|
|
rs774295037 CA705494 |
309 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1570371079 CA339145855 |
310 | V>G | No |
ClinGen Ensembl |
|
|
CA705495 rs759092010 |
310 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs766979392 CA705496 |
311 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA339145877 rs1200936743 |
312 | G>A | No |
ClinGen gnomAD |
|
|
rs752410692 CA339145869 |
312 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs752410692 CA705497 |
312 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1258244086 CA339145906 |
315 | Q>E | No |
ClinGen gnomAD |
|
|
rs1191207249 CA339145925 |
316 | A>D | No |
ClinGen gnomAD |
|
|
CA705498 rs760304376 |
316 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754188985 CA705500 |
321 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA19777168 rs562974074 |
321 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339146021 rs1373017894 |
323 | D>E | No |
ClinGen Ensembl |
|
|
CA339146019 rs1253073797 |
323 | D>V | No |
ClinGen TOPMed |
|
|
CA19777170 rs868206879 |
324 | W>* | No |
ClinGen Ensembl |
|
|
rs1421234959 CA339146025 |
324 | W>R | No |
ClinGen TOPMed |
|
|
CA705503 rs750929046 |
326 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1362786890 CA339146058 |
326 | A>S | No |
ClinGen gnomAD |
|
|
rs758618507 CA705505 |
327 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758618507 CA705506 |
327 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780269059 CA705508 |
327 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758618507 CA339146065 |
327 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405064880 CA339146083 |
329 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA705509 rs769003252 |
330 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA705511 rs749055957 |
331 | A>S | No |
ClinGen ExAC |
|
|
rs770732789 CA705512 |
332 | S>* | No |
ClinGen ExAC gnomAD |
2 associated diseases with Q86SQ9
[MIM: 613861]: Retinitis pigmentosa 59 (RP59)
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:21295283}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 617836]: Developmental delay and seizures with or without movement abnormalities (DEDSM)
An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor. {ECO:0000269|PubMed:29100083}. Note=The disease may be caused by variants affecting the gene represented in this entry.
Without disease ID
- A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:21295283}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor. {ECO:0000269|PubMed:29100083}. Note=The disease may be caused by variants affecting the gene represented in this entry.
1 regional properties for Q86SQ9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Di-trans-poly-cis-decaprenylcistransferase-like, conserved site | 201 - 218 | IPR018520 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.5.1.87 | 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 | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| dehydrodolichyl diphosphate synthase complex | A protein complex which is capable of dehydrodolichyl diphosphate synthase activity. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| dehydrodolichyl diphosphate synthase activity | Catalysis of the condensation of isopentenyl diphosphate and farnesyl diphosphate in the cis-configuration to form dehydrodolichyl diphosphate. |
| metal ion binding | Binding to a metal ion. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| dolichyl diphosphate biosynthetic process | The chemical reactions and pathways resulting in the formation of dolichyl diphosphate, a diphosphorylated dolichol derivative. |
| polyprenol biosynthetic process | The chemical reactions and pathways resulting in the formation of polyprenols, prenols with more than 4 isoprenoid residues, which may be all-trans, or a mixture of cis and trans. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q03175 | SRT1 | Dehydrodolichyl diphosphate synthase complex subunit SRT1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P35196 | RER2 | Dehydrodolichyl diphosphate synthase complex subunit RER2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q56Y11 | At5g58770 | Dehydrodolichyl diphosphate synthase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O80458 | DPS | Dehydrodolichyl diphosphate synthase 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q570Q8 | At5g58784 | Dehydrodolichyl diphosphate synthase 5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8GY03 | At5g58782 | Dehydrodolichyl diphosphate synthase 4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8RX73 | At5g58780 | Dehydrodolichyl diphosphate synthase 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8LAR7 | At5g60510 | Dehydrodolichyl diphosphate synthase 8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSWIKEGELS | LWERFCANII | KAGPMPKHIA | FIMDGNRRYA | KKCQVERQEG | HSQGFNKLAE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TLRWCLNLGI | LEVTVYAFSI | ENFKRSKSEV | DGLMDLARQK | FSRLMEEKEK | LQKHGVCIRV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LGDLHLLPLD | LQELIAQAVQ | ATKNYNKCFL | NVCFAYTSRH | EISNAVREMA | WGVEQGLLDP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SDISESLLDK | CLYTNRSPHP | DILIRTSGEV | RLSDFLLWQT | SHSCLVFQPV | LWPEYTFWNL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FEAILQFQMN | HSVLQKARDM | YAEERKRQQL | ERDQATVTEQ | LLREGLQASG | DAQLRRTRLH |
| 310 | 320 | 330 | |||
| KLSARREERV | QGFLQALELK | RADWLARLGT | ASA |