O75503
PR
Gene name |
CLN5 |
Protein name |
Ceroid-lipofuscinosis neuronal protein 5 |
Names |
Protein CLN5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1203 |
EC number |
3.1.2.22: Thiolester hydrolases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for O75503
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6R99 | X-ray | 270 A | A | 1-358 | PDB |
| AF-O75503-F1 | Predicted | AlphaFoldDB |
375 variants for O75503
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000672217 rs201615354 RCV000187058 RCV002054194 |
1 | M>K | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001438116 rs1268502139 RCV000670614 RCV002422455 |
1 | M>L | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1268502139 RCV000668577 |
1 | M>V | Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs146993892 CA313861 RCV001111458 RCV001727624 RCV001082301 RCV000726511 RCV002317080 RCV000395302 |
2 | A>V | Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1064795659 RCV001828507 RCV000487383 CA16619819 |
5 | V>I | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555273567 RCV000664744 |
6 | D>missing | Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1391354551 RCV000819120 |
6 | D>L | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs541501705 CA7007103 RCV000461315 |
7 | T>A | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000814647 rs762873839 RCV000187045 RCV002513988 RCV001109123 |
8 | A>R | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7007109 RCV001272139 rs563306322 RCV000688642 RCV000482274 |
11 | A>S | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1555273571 RCV000672283 |
12 | E>missing | Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000485941 RCV002341140 rs769990158 |
17 | A>A | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001059306 rs769990158 |
17 | A>E | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001785511 rs773979248 RCV000187060 RCV000686964 RCV002516985 |
18 | G>K | Neuronal ceroid lipofuscinosis Inborn genetic diseases Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1287993760 RCV001048474 |
18 | G>R | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000553078 RCV000306509 rs376454715 RCV001111459 RCV000187066 CA313909 |
21 | R>W | Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1057516814 RCV000410812 |
25 | S>missing | Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000489434 rs1085307868 CA388306480 RCV001829404 |
25 | S>F | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs764790770 CA388306486 RCV000668838 |
26 | W>* | Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000689128 rs104894385 CA340000 RCV000002674 |
26 | W>* | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7007119 RCV001241884 rs104894385 |
26 | W>C | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs794726928 RCV000173408 RCV002408752 |
26 | W>E | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA313867 RCV000711259 RCV000187050 RCV000755716 RCV000989148 VAR_066895 rs199727787 RCV002314701 |
26 | W>R | Neuronal ceroid lipofuscinosis Inborn genetic diseases Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7007118 RCV001280030 RCV001871589 rs764790770 RCV001556431 |
26 | W>S | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000187051 rs796052344 CA313870 RCV001248410 RCV001785508 |
27 | C>Y | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001070707 RCV001729791 rs1242337070 |
28 | W>* | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7007121 RCV000984156 RCV000521345 RCV001858008 rs200348035 |
28 | W>* | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2034189535 RCV001280031 |
30 | L>P | Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs766858440 RCV001213414 CA7007122 |
31 | A>E | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA313912 rs778982551 RCV001336971 RCV000473058 RCV000726582 RCV002311261 |
36 | A>P | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001729815 rs2034190303 RCV001217019 |
38 | V>missing | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000632674 rs1555273604 |
38 | V>missing | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001729446 rs61504484 RCV002327011 RCV001852446 RCV000187063 |
39 | P>* | Neuronal ceroid lipofuscinosis Inborn genetic diseases Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA388306634 RCV000632707 rs1285996011 |
39 | P>L | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001729445 RCV000187047 RCV001058811 rs61504484 |
39 | P>W | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555273609 RCV000672485 |
40 | G>missing | Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs780198002 RCV000409209 |
45 | S>missing | Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs776490903 CA7007131 RCV001113460 |
45 | S>P | Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001272140 rs775102823 RCV000523521 CA7007134 RCV000807315 |
46 | G>C | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000494519 rs1131691423 CA388306764 RCV001829409 |
48 | P>T | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001527017 rs386833970 RCV000049945 |
49 | S>missing | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001246493 CA7007137 rs763892391 |
50 | R>W | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001047274 RCV000725568 rs367952803 CA7007139 RCV001275302 RCV002314014 |
51 | R>H | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7007138 rs374080049 RCV001308570 RCV002543240 |
51 | R>S | Neuronal ceroid lipofuscinosis Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
RCV000410399 RCV003114526 rs1057517134 |
52 | H>missing | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000520270 CA388307652 RCV001785653 RCV001226921 rs765773686 |
59 | R>C | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002537054 RCV001272142 CA7007161 rs753197537 RCV000797759 |
59 | R>H | Neuronal ceroid lipofuscinosis Inborn genetic diseases Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555273881 RCV000632695 RCV001729667 |
63 | R>missing | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000170441 rs786205211 RCV002321680 RCV001054069 CA274758 |
63 | R>C | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV003128567 rs104894386 VAR_042700 CA252330 RCV000002676 RCV000698933 |
63 | R>H | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 CLN5; retained in the endoplasmic reticulum rather than reaching the lysosome [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA263884 VAR_042702 rs104894386 RCV000049946 RCV000989149 |
63 | R>P | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 CLN5; Retained in the endoplasmic reticulum rather than reaching the lysosome [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000674770 rs1555273882 |
64 | P>missing | Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000791202 rs1593910113 CA388307755 |
70 | C>R | Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000632717 rs376336781 CA252176337 |
75 | T>I | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001307415 rs2034242824 |
77 | C>S | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000002678 VAR_066896 rs267606738 CA252336 RCV001039257 |
77 | C>Y | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 CLN5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001326340 CA7007166 rs750283603 |
83 | I>V | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000698534 RCV002314702 rs138110438 RCV001272143 CA313873 RCV000726905 |
89 | D>N | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA252176357 rs898862493 RCV001350472 |
90 | D>E | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA263887 RCV000049947 rs386833971 RCV001058589 |
96 | R>* | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs143759121 RCV001060053 CA7007176 |
99 | A>V | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000699621 rs1048147140 CA252176367 |
102 | W>G | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001244760 rs368672718 CA7007177 |
108 | D>A | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2034245418 RCV001237972 |
112 | H>Q | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA252176375 RCV001327392 rs147214555 |
113 | L>F | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001241255 rs1231886495 |
120 | I>V | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000989150 RCV000184038 rs794729218 |
124 | S>missing | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000693093 RCV000766777 rs369122820 RCV000187068 CA313915 RCV001272144 |
124 | S>N | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002265586 CA263891 RCV000049949 rs386833972 |
126 | L>* | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000049950 rs386833973 |
128 | G>missing | Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000801114 RCV000784980 rs1419308949 CA388308817 |
133 | M>R | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA243394 RCV000724376 rs794727507 RCV001028014 |
139 | F>L | Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA263895 rs386833974 RCV000049951 |
140 | Q>* | Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs201464545 RCV001275303 CA7007202 RCV000414655 RCV000686723 |
142 | G>R | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs386833975 RCV000989151 RCV000049952 CA263898 VAR_066897 |
143 | N>S | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 CLN5; loss of glycosylation; effectively transported to the lysosome [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA388309013 RCV001272145 rs1593911055 RCV000819484 |
144 | C>R | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000761545 CA388309019 rs1566219136 |
144 | C>Y | Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000674313 RCV001049322 rs1555273992 |
148 | H>missing | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs752563013 RCV001245677 CA7007203 |
148 | H>Y | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000049953 RCV001044966 rs386833976 VAR_066898 CA263901 |
149 | L>P | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 CLN5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000613275 rs546989392 RCV000187069 CA313918 RCV000556663 |
150 | R>* | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA313921 RCV001113463 RCV000536823 RCV000367115 RCV002314705 RCV000724910 rs144656959 |
153 | M>I | Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive Neuronal ceroid lipofuscinosis Inborn genetic diseases Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7007206 rs780802058 RCV001207364 |
156 | P>L | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_066899 RCV001853061 CA263904 RCV000049954 rs386833977 |
156 | P>S | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 CLN5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_066900 CA7007207 rs147065248 |
158 | W>R | CLN5 [UniProt] | Yes |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
VAR_066901 rs386833978 CA263907 RCV000049955 |
158 | W>S | Neuronal ceroid lipofuscinosis 5 CLN5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001239747 CA313897 RCV001272146 rs148544801 RCV000187061 |
163 | A>T | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001272147 RCV000685999 CA7007209 rs748549252 |
164 | A>S | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1393893027 CA388309412 RCV000632713 |
167 | F>S | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000557447 CA388309441 rs1420822940 |
169 | G>R | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000501228 rs1555274005 |
172 | D>missing | Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001036078 RCV001008713 rs587780315 RCV002316300 RCV000116757 |
174 | H>* | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs386833979 RCV000049956 RCV000690321 |
175 | W>missing | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000818212 RCV000049957 CA263911 rs386833980 RCV000187071 |
175 | W>* | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA313924 RCV000711261 rs142870036 RCV000702222 RCV001785512 |
176 | K>E | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001337190 rs2034263363 |
179 | G>W | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16619820 rs1064795474 RCV001834565 RCV000478503 |
182 | V>I | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA353480 RCV002282043 rs869312751 RCV000210062 |
183 | Q>* | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000686101 rs1566219289 CA388309562 |
184 | V>I | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000669036 rs1555274012 |
185 | A>missing | Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000473641 RCV000187073 RCV001275304 rs369100769 CA313927 |
190 | N>S | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7007232 RCV001113465 RCV001368365 rs771119692 |
191 | M>T | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555274325 RCV000632697 CA388311174 |
192 | F>V | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_066902 RCV000178274 RCV000603044 RCV002312551 CA302986 RCV001082459 rs138611001 RCV000675521 |
193 | N>K | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001251943 rs2034339472 RCV001879837 |
196 | A>V | Intellectual disability Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1593914689 RCV000790375 |
197 | K>* | Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002318292 CA388311301 rs1566221309 |
199 | V>A | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs386833981 CA263914 RCV000049958 VAR_042701 |
209 | Y>D | Neuronal ceroid lipofuscinosis 5 CLN5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000690486 RCV002406554 CA388311597 rs1312706135 |
213 | N>K | Neuronal ceroid lipofuscinosis Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001280032 RCV000459548 RCV000498752 CA7007241 rs11842935 RCV002318527 VAR_059031 |
219 | E>A | Neuronal ceroid lipofuscinosis Inborn genetic diseases Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001785509 RCV000187053 RCV002415803 rs368428437 CA313876 RCV001242834 |
221 | G>E | Neuronal ceroid lipofuscinosis Inborn genetic diseases Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000808669 CA7007242 RCV000481649 RCV001785626 rs755669847 |
221 | G>R | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555274337 RCV000675014 |
225 | W>missing | Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA388311935 rs1555274338 RCV000625737 RCV000627363 RCV001868156 |
225 | W>* | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA388311940 RCV000812653 rs1555274338 |
225 | W>C | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000989152 CA252327 VAR_005137 RCV000002675 rs28940280 |
230 | D>N | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 CLN5; creates a new N-glycosylation site; retained in the endoplasmic reticulum rather than reaching the lysosome [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001046654 rs200419110 CA7007246 |
231 | C>Y | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000805601 CA388312257 rs1593914834 |
234 | F>L | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000550237 rs535755345 RCV001272148 CA7007247 |
235 | V>A | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000674631 rs1555274343 RCV001861846 |
236 | L>missing | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555274344 RCV000667867 RCV001855490 |
238 | T>missing | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001206726 rs1439976492 CA388312887 |
252 | I>T | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001303897 rs1232560552 CA388312901 |
253 | E>Q | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs929479143 CA252177615 RCV002541727 RCV001280033 RCV002269357 |
255 | N>T | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs386833982 RCV001853062 RCV000049959 |
258 | R>missing | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs376675270 CA252177619 RCV001114858 RCV002556251 |
258 | R>I | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7007255 rs376675270 RCV000485873 RCV001834569 |
258 | R>K | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000468638 RCV000169429 RCV000413943 rs786204644 RCV002372061 |
260 | F>missing | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1262072010 CA388313181 RCV001298054 |
262 | Y>H | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA273763 RCV002515118 RCV000161918 rs730882146 |
263 | S>N | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000412162 RCV001850973 CA16041688 rs764495616 |
265 | E>* | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs2034345372 RCV001114859 |
269 | L>R | Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000049960 RCV000675522 RCV001390094 rs386833983 |
270 | G>missing | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001114860 RCV000230950 rs199609750 CA7007264 RCV000481695 |
271 | N>S | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1555274365 RCV001861806 RCV000671450 |
280 | G>missing | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001243960 CA7007267 rs768449493 RCV001729819 |
280 | G>* | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001222281 rs2034346369 |
283 | T>missing | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1375890703 RCV001114861 CA388313836 |
288 | I>M | Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001785630 CA7007269 RCV000483654 RCV000814083 rs770688728 |
290 | R>I | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA263873 rs386833963 RCV000049938 |
293 | Y>* | Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000187055 RCV001827995 rs772050001 CA313882 |
295 | F>L | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA388314086 rs1298505272 RCV001060411 |
301 | T>N | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000479788 rs1060502320 RCV001785619 RCV000469030 CA16614338 RCV002523317 |
302 | K>E | Neuronal ceroid lipofuscinosis Inborn genetic diseases Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555274369 RCV000672807 |
303 | E>missing | Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs121908292 RCV002512684 CA252333 RCV000002677 |
303 | E>* | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555274373 RCV002544673 RCV000674729 |
305 | L>* | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555274374 CA388314195 RCV000658319 RCV001280034 |
307 | S>N | Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs386833964 RCV000049939 RCV000724349 RCV001389657 |
309 | L>missing | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs386833965 RCV000049940 |
309 | L>missing | Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000803462 rs386833966 RCV000049941 |
312 | F>missing | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201767993 RCV001275305 RCV002424701 RCV000704165 RCV001585653 CA7007274 |
312 | F>S | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001239670 CA7007275 rs182060681 |
316 | I>T | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000049942 rs386833967 RCV001664236 RCV000632714 |
319 | K>missing | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000372934 RCV002312074 RCV000116751 RCV000610127 CA152426 VAR_005138 rs1800209 RCV000675523 RCV001273177 |
319 | K>R | Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs750935331 CA16041689 RCV000411598 |
320 | Q>* | Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000799157 rs1455002686 CA388314489 |
320 | Q>H | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2034349431 RCV001064628 RCV001336970 |
322 | Y>missing | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs148862100 CA252339 VAR_066903 RCV001318349 RCV000002679 RCV000493479 |
325 | Y>C | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 CLN5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC dbSNP gnomAD |
|
rs386833968 VAR_059032 RCV000049943 RCV000823474 CA263880 RCV001092076 |
330 | W>C | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 CLN5; retained in the endoplasmic reticulum rather than reaching the lysosome [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000668417 rs1555274387 |
332 | L>missing | Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs745767054 RCV001114862 RCV002314703 RCV000532983 RCV000187057 CA313885 |
340 | K>T | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000684967 rs386833969 RCV000002673 RCV000484812 |
342 | T>* | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000667852 rs1555274391 |
347 | P>missing | Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs41287036 RCV000319549 RCV000678298 RCV000543328 CA288738 RCV000116753 |
349 | P>S | Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002537470 RCV001275306 RCV000820427 RCV001546138 CA7007289 rs762333226 |
350 | I>V | Neuronal ceroid lipofuscinosis Inborn genetic diseases Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555274402 RCV000673636 |
351 | R>missing | Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs796052345 RCV000187074 RCV001852447 RCV001729447 |
356 | S>missing | Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA388315072 RCV000632683 rs1555274416 |
358 | L>F | Neuronal ceroid lipofuscinosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs146993892 CA388306202 |
2 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs796052342 RCV000187044 |
2 | A>P | No |
ClinVar dbSNP |
|
|
CA7007101 rs753237757 |
3 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759063887 CA7007102 |
6 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752389963 CA7007104 |
7 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752389963 CA388306269 |
7 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752389963 CA388306267 |
7 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388306282 rs1303027372 |
8 | A>E | No |
ClinGen gnomAD |
|
|
rs1230755416 CA388306293 |
9 | Q>R | No |
ClinGen gnomAD |
|
|
CA388306307 rs1203661848 |
10 | G>D | No |
ClinGen gnomAD |
|
|
rs750973360 CA7007107 |
10 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1462172395 CA388306323 |
11 | A>V | No |
ClinGen gnomAD |
|
|
CA7007112 rs779057868 CA7007113 |
12 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1007145426 CA252175652 |
13 | M>T | No |
ClinGen Ensembl |
|
|
CA388306360 rs1452146675 |
14 | R>L | No |
ClinGen gnomAD |
|
|
CA7007116 rs760626879 |
16 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7007117 rs770903467 |
18 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1254198866 CA388306400 |
18 | G>S | No |
ClinGen TOPMed |
|
|
CA388306411 rs1325612983 |
19 | A>T | No |
ClinGen gnomAD |
|
|
rs1369092318 CA388306418 |
19 | A>V | No |
ClinGen gnomAD |
|
|
CA252175659 rs1032818633 |
20 | A>V | No |
ClinGen gnomAD |
|
|
CA388306443 rs1246558543 |
22 | G>R | No |
ClinGen TOPMed |
|
|
CA388306457 rs1212872581 |
23 | R>H | No |
ClinGen gnomAD |
|
|
CA388306460 rs1212872581 |
23 | R>L | No |
ClinGen gnomAD |
|
|
CA388306518 rs200348035 |
28 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1242337070 CA388306511 |
28 | W>L | No |
ClinGen gnomAD |
|
|
rs768028774 CA7007120 |
28 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA388306533 rs1416644100 |
30 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA388306544 rs1566217136 |
31 | A>S | No |
ClinGen Ensembl |
|
|
CA388306549 rs766858440 |
31 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754352180 CA7007123 |
32 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA388306575 rs1392663300 |
34 | W>* | No |
ClinGen gnomAD |
|
|
rs1305741609 CA388306590 |
35 | L>F | No |
ClinGen TOPMed |
|
|
CA388306592 rs1428678260 |
35 | L>P | No |
ClinGen TOPMed |
|
|
CA388306615 rs1428774688 |
38 | V>F | No |
ClinGen gnomAD |
|
|
CA388306629 rs1285996011 |
39 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1233765131 CA388306640 |
40 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA7007125 rs748399349 |
40 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388306642 rs1233765131 |
40 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA388306658 rs1284580558 |
41 | W>C | No |
ClinGen gnomAD |
|
|
CA388306655 rs1210348348 |
41 | W>L | No |
ClinGen gnomAD |
|
|
CA388306648 rs1332500298 |
41 | W>R | No |
ClinGen gnomAD |
|
|
CA7007127 rs777949085 |
42 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777949085 CA388306670 |
42 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282649970 CA388306675 |
43 | R>P | No |
ClinGen TOPMed |
|
|
CA388306673 rs1213074445 |
43 | R>W | No |
ClinGen gnomAD |
|
|
rs775102823 CA7007135 |
46 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs958950934 CA252175702 |
48 | P>R | No |
ClinGen Ensembl |
|
|
rs1336264683 CA388306796 |
49 | S>C | No |
ClinGen gnomAD |
|
|
rs763892391 CA7007136 |
50 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388306847 rs1292661272 |
53 | W>* | No |
ClinGen gnomAD |
|
|
rs1353461395 CA388306886 |
54 | P>L | No |
ClinGen gnomAD |
|
|
CA388306901 rs1314189866 |
55 | V>A | No |
ClinGen TOPMed |
|
|
CA252175717 rs940819040 |
55 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7007144 rs547991726 CA7007143 |
57 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7007142 rs765252923 |
57 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1280128886 CA388306950 |
58 | K>* | No |
ClinGen gnomAD |
|
|
CA388307655 rs753197537 |
59 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765773686 CA7007160 |
59 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs948428149 CA252176334 |
74 | Y>F | No |
ClinGen Ensembl |
|
|
CA7007163 rs376336781 |
75 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs757462449 CA7007164 |
76 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA388307955 rs1290682648 |
81 | S>L | No |
ClinGen TOPMed |
|
|
CA252176345 rs1031686982 |
82 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA388307961 rs1031686982 |
82 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7007167 rs201967273 |
84 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7007169 rs749175734 |
86 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs780211160 CA7007168 |
86 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1361528081 CA388308045 |
87 | E>A | No |
ClinGen TOPMed |
|
|
CA7007171 rs747775956 |
90 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7007172 rs771803882 |
93 | E>Q | No |
ClinGen ExAC |
|
|
CA7007173 rs772707642 |
95 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs201068201 CA7007175 |
96 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7007174 rs201068201 |
96 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA252176369 rs745473360 |
107 | G>R | No |
ClinGen Ensembl |
|
|
rs1480674058 CA388308370 |
108 | D>Y | No |
ClinGen gnomAD |
|
|
CA388308380 rs1430940411 |
109 | L>P | No |
ClinGen TOPMed |
|
|
rs372785489 CA7007179 |
112 | H>Y | No |
ClinGen ESP ExAC TOPMed |
|
|
rs944357028 CA252176528 |
116 | M>L | No |
ClinGen gnomAD |
|
|
CA388308670 rs1231886495 |
120 | I>F | No |
ClinGen gnomAD |
|
|
CA252176530 rs138626269 |
121 | G>A | No |
ClinGen ESP TOPMed |
|
|
CA388308679 rs1309552809 |
121 | G>R | No |
ClinGen gnomAD |
|
|
rs374025536 CA252176533 |
122 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388308699 rs1259040736 |
124 | S>G | No |
ClinGen gnomAD |
|
|
rs1211662159 CA388308710 |
125 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA388308733 rs1485283917 |
128 | G>D | No |
ClinGen gnomAD |
|
|
rs1389865413 CA388308732 |
128 | G>S | No |
ClinGen TOPMed |
|
|
CA388308803 rs1305273453 |
132 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA7007195 rs762023630 |
133 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388308810 rs762023630 |
133 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388308839 rs1480555570 |
134 | E>A | No |
ClinGen TOPMed |
|
|
CA7007196 rs373164437 |
136 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388308870 rs1593910983 |
136 | Y>H | No |
ClinGen Ensembl |
|
|
rs767222025 CA7007197 |
138 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7007201 rs754786567 |
141 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs201464545 CA388308981 |
142 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388309037 rs1300275242 |
145 | T>A | No |
ClinGen gnomAD |
|
|
rs113944597 CA252176556 |
145 | T>I | No |
ClinGen Ensembl |
|
|
CA388309055 rs1374423178 |
146 | F>S | No |
ClinGen gnomAD |
|
|
CA388309068 rs1391171977 |
147 | P>A | No |
ClinGen gnomAD |
|
|
rs1014000261 CA388309121 |
150 | R>L | No |
ClinGen gnomAD |
|
|
rs1014000261 CA252176564 |
150 | R>Q | No |
ClinGen gnomAD |
|
|
CA7007204 rs777080820 |
151 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1566219174 CA388309170 |
153 | M>T | No |
ClinGen Ensembl |
|
|
CA388309189 rs1234529940 |
154 | D>G | No |
ClinGen gnomAD |
|
|
rs756856250 CA7007205 |
154 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1593911164 CA388309294 |
160 | N>S | No |
ClinGen Ensembl |
|
|
rs748549252 CA388309351 |
164 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA252176581 rs1027131967 |
171 | D>E | No |
ClinGen gnomAD |
|
|
CA7007210 rs772220707 |
171 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs773113834 CA7007211 |
173 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs142870036 CA388309509 |
176 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388309524 rs759460716 |
178 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA7007213 rs759460716 |
178 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1216393096 CA388309534 |
179 | G>E | No |
ClinGen gnomAD |
|
|
rs1307972704 CA388309560 |
183 | Q>H | No |
ClinGen gnomAD |
|
|
CA388309574 rs1203597595 |
186 | T>P | No |
ClinGen gnomAD |
|
|
CA388309582 rs1469542057 |
187 | I>L | No |
ClinGen gnomAD |
|
|
CA388309584 rs1193798878 |
187 | I>T | No |
ClinGen gnomAD |
|
|
rs778310133 CA7007231 |
190 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs759765950 CA7007233 |
195 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1402613512 CA388311274 |
197 | K>N | No |
ClinGen gnomAD |
|
|
rs1319075772 CA388311380 |
204 | E>D | No |
ClinGen gnomAD |
|
|
CA388311426 rs1398224239 |
206 | G>E | No |
ClinGen gnomAD |
|
|
CA7007235 rs775100164 |
208 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs775100164 CA388311462 |
208 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs762787810 CA7007236 |
209 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs140122775 CA252177566 |
213 | N>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs761373431 CA7007239 |
217 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA388311708 rs1284518638 |
217 | S>R | No |
ClinGen gnomAD |
|
|
rs1445978917 CA388311724 |
218 | P>R | No |
ClinGen gnomAD |
|
|
CA388311811 rs368428437 |
221 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1367021567 CA388311845 |
222 | A>V | No |
ClinGen gnomAD |
|
|
rs1159432395 CA388311913 |
225 | W>G | No |
ClinGen gnomAD |
|
|
CA388312023 rs753041170 |
228 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7007243 rs753041170 |
228 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388312203 rs1333269066 |
232 | S>C | No |
ClinGen gnomAD |
|
|
CA7007249 rs775752162 |
237 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA7007248 rs769960861 |
237 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA388312394 rs1593914854 |
238 | T>N | No |
ClinGen Ensembl |
|
|
CA7007251 rs768487375 |
239 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1057518562 CA16042830 RCV000412774 |
244 | E>G | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA7007252 rs372403801 |
251 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777477178 RCV000187039 CA313828 |
251 | N>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA252177602 rs777477178 |
251 | N>T | No |
ClinGen Ensembl |
|
|
CA7007253 rs761675809 |
252 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA222953 RCV000081419 rs398124228 |
254 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs767032477 CA7007254 |
254 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs398124228 CA252177612 |
254 | T>S | No |
ClinGen Ensembl |
|
|
CA388312993 rs1566221492 RCV000729890 |
255 | N>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA388313058 rs1185204060 |
258 | R>G | No |
ClinGen TOPMed |
|
|
rs760212878 CA7007256 |
259 | I>K | No |
ClinGen ExAC gnomAD |
|
|
RCV000178273 CA245323 rs794727641 |
259 | I>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA313879 rs794727641 RCV000187054 |
259 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1399956851 CA388313113 |
260 | F>L | No |
ClinGen gnomAD |
|
|
rs766007943 CA7007257 |
261 | L>V | No |
ClinGen ExAC |
|
|
CA7007258 rs368551639 |
262 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1329255995 RCV001269549 CA388313194 |
263 | S>G | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs764495616 CA7007259 |
265 | E>Q | No |
ClinGen ExAC |
|
|
rs1206456439 CA388313281 |
266 | P>A | No |
ClinGen TOPMed |
|
|
rs1444041608 CA388313299 |
266 | P>R | No |
ClinGen gnomAD |
|
|
rs752135206 CA7007261 |
267 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7007262 rs146885902 |
267 | T>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs752135206 CA7007260 |
267 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA388313495 rs1214896967 |
273 | T>S | No |
ClinGen TOPMed |
|
|
rs780204258 CA7007265 |
277 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1272672923 CA388313620 |
278 | P>S | No |
ClinGen gnomAD |
|
|
CA388313637 rs1456615074 |
279 | T>A | No |
ClinGen gnomAD |
|
|
rs1566221606 CA388313664 |
280 | G>A | No |
ClinGen Ensembl |
|
|
CA388313737 rs1380693312 |
284 | L>I | No |
ClinGen TOPMed |
|
|
rs140580715 CA7007268 |
287 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA388313809 rs1196811295 |
288 | I>V | No |
ClinGen gnomAD |
|
|
CA388313855 rs1476322252 |
289 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1399185839 CA388313906 |
291 | F>L | No |
ClinGen gnomAD |
|
|
CA388313963 rs1463859201 |
294 | P>S | No |
ClinGen gnomAD |
|
|
rs1463058420 CA388314012 |
297 | P>T | No |
ClinGen TOPMed |
|
|
rs557876713 CA7007270 |
298 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1385771148 CA388314059 |
299 | L>F | No |
ClinGen gnomAD |
|
|
CA7007272 rs149668314 |
307 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388314233 rs1409013015 |
309 | L>S | No |
ClinGen gnomAD |
|
|
CA7007273 rs371365721 |
310 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388314314 rs1337298559 |
313 | D>E | No |
ClinGen Ensembl |
|
|
CA388314309 rs1213830086 |
313 | D>V | No |
ClinGen TOPMed |
|
|
CA252177674 rs182060681 |
316 | I>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388314419 rs1288435022 |
318 | H>Y | No |
ClinGen TOPMed |
|
|
rs202171514 CA388314442 |
319 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1422809171 CA388314463 |
319 | K>N | No |
ClinGen gnomAD |
|
|
rs202171514 CA7007277 |
319 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750935331 CA7007278 |
320 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs756149425 CA7007279 |
321 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1364790443 CA388314525 |
322 | Y>C | No |
ClinGen TOPMed |
|
|
rs967290737 CA252177686 |
326 | N>Y | No |
ClinGen Ensembl |
|
|
rs1457052227 CA388314614 |
327 | F>S | No |
ClinGen gnomAD |
|
|
CA252177689 rs386833968 |
330 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs749490451 CA7007280 |
332 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA7007282 rs779088231 |
333 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7007281 rs755238050 |
333 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs771851983 CA7007284 |
334 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA252177699 rs747998609 |
334 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7007283 rs747998609 |
334 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773030124 CA7007285 |
335 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1321520247 CA388314758 |
337 | P>A | No |
ClinGen TOPMed |
|
|
rs1321362326 CA388314810 |
341 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA388314855 rs1262705264 |
344 | E>K | No |
ClinGen gnomAD |
|
|
rs1427557682 CA388314905 |
347 | P>S | No |
ClinGen TOPMed |
|
|
rs767924605 CA7007290 |
353 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423026364 CA388315014 |
355 | L>V | No |
ClinGen TOPMed gnomAD |
1 associated diseases with O75503
[MIM: 256731]: Ceroid lipofuscinosis, neuronal, 5 (CLN5)
A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 5 comprise mixed combinations of granular, curvilinear, and fingerprint profiles. {ECO:0000269|PubMed:15728307, ECO:0000269|PubMed:16814585, ECO:0000269|PubMed:17607606, ECO:0000269|PubMed:19309691, ECO:0000269|PubMed:20052765, ECO:0000269|PubMed:21990111, ECO:0000269|PubMed:24038957, ECO:0000269|PubMed:24058541, ECO:0000269|PubMed:26342652, ECO:0000269|PubMed:9662406}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 5 comprise mixed combinations of granular, curvilinear, and fingerprint profiles. {ECO:0000269|PubMed:15728307, ECO:0000269|PubMed:16814585, ECO:0000269|PubMed:17607606, ECO:0000269|PubMed:19309691, ECO:0000269|PubMed:20052765, ECO:0000269|PubMed:21990111, ECO:0000269|PubMed:24038957, ECO:0000269|PubMed:24058541, ECO:0000269|PubMed:26342652, ECO:0000269|PubMed:9662406}. Note=The disease is caused by variants affecting the gene represented in this entry.
3 regional properties for O75503
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.2.22 | Thiolester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
9 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. |
| 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). |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| 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. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| vacuolar lumen | The volume enclosed within the vacuolar membrane. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| hydrolase activity, acting on glycosyl bonds | Catalysis of the hydrolysis of any glycosyl bond. |
| mannose binding | Binding to mannose, a monosaccharide hexose, stereoisomeric with glucose, that occurs naturally only in polymerized forms called mannans. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| brain development | The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
| glycosylation | The covalent attachment and further modification of carbohydrate residues to a substrate molecule. |
| lysosomal lumen acidification | Any process that reduces the pH of the lysosomal lumen, measured by the concentration of the hydrogen ion. |
| lysosome organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a lysosome. A lysosome is a cytoplasmic, membrane-bounded organelle that is found in most animal cells and that contains a variety of hydrolases. |
| neurogenesis | Generation of cells within the nervous system. |
| neuron maturation | A developmental process, independent of morphogenetic (shape) change, that is required for a neuron to attain its fully functional state. |
| positive regulation of GTP binding | Any process that activates or increases the frequency, rate or extent of GTP binding. |
| protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds. |
| retrograde transport, endosome to Golgi | The directed movement of membrane-bounded vesicles from endosomes back to the trans-Golgi network where they are recycled for further rounds of transport. |
| signal peptide processing | The proteolytic removal of a signal peptide from a protein during or after transport to a specific location in the cell. |
| visual perception | The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q1ZYR0 | CLN5 | Ceroid-lipofuscinosis neuronal protein 5 | Bos taurus (Bovine) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAQEVDTAQG | AEMRRGAGAA | RGRASWCWAL | ALLWLAVVPG | WSRVSGIPSR | RHWPVPYKRF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DFRPKPDPYC | QAKYTFCPTG | SPIPVMEGDD | DIEVFRLQAP | VWEFKYGDLL | GHLKIMHDAI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GFRSTLTGKN | YTMEWYELFQ | LGNCTFPHLR | PEMDAPFWCN | QGAACFFEGI | DDVHWKENGT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LVQVATISGN | MFNQMAKWVK | QDNETGIYYE | TWNVKASPEK | GAETWFDSYD | CSKFVLRTFN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KLAEFGAEFK | NIETNYTRIF | LYSGEPTYLG | NETSVFGPTG | NKTLGLAIKR | FYYPFKPHLP |
| 310 | 320 | 330 | 340 | 350 | |
| TKEFLLSLLQ | IFDAVIVHKQ | FYLFYNFEYW | FLPMKFPFIK | ITYEEIPLPI | RNKTLSGL |