P20933
PR
Gene name |
AGA |
Protein name |
N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase |
Names |
Aspartylglucosaminidase, Glycosylasparaginase, N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:175 |
EC number |
3.5.1.26: In linear amides |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
3 structures for P20933
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1APY | X-ray | 200 A | PDB | ||
| 1APZ | X-ray | 230 A | PDB | ||
| AF-P20933-F1 | Predicted | AlphaFoldDB |
365 variants for P20933
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1054938291 RCV000411846 |
1 | M>? | Variant assessed as Somatic; impact. Aspartylglucosaminuria [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV000666296 rs937973897 |
1 | M>I | Aspartylglucosaminuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000938792 rs149092606 RCV001251881 CA3147085 |
4 | K>Q | Intellectual disability Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1057517062 RCV000411313 |
10 | L>missing | Aspartylglucosaminuria [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3147075 RCV001148284 rs753394137 |
10 | L>V | Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs74626221 CA3147072 RCV000675822 RCV001246873 RCV000169339 VAR_015427 CA199105 |
12 | V>L | Aspartylglucosaminuria (agu) Aspartylglucosaminuria AGU; uncertain pathological significance [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD UniProt |
|
RCV000049357 CA144025 rs386833429 |
15 | L>R | Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000409106 rs1057517239 |
24 | S>missing | Aspartylglucosaminuria [ClinVar] | Yes |
ClinVar dbSNP |
|
rs764598121 RCV000668122 |
29 | L>missing | Aspartylglucosaminuria [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886059263 CA10620600 RCV000315146 |
31 | V>A | Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000276418 rs886059262 CA10618347 |
32 | N>T | Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs386833417 RCV000000248 |
33 | T>* | Aspartylglucosaminuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001574484 RCV000587664 rs759063638 |
34 | W>missing | Aspartylglucosaminuria [ClinVar] | Yes |
ClinVar dbSNP |
|
rs763326444 CA3147047 RCV000791039 |
39 | A>T | Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1560952256 CA358784992 RCV000721973 |
41 | E>* | Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA114058 RCV000000246 VAR_005069 rs121964907 |
60 | G>D | Aspartylglucosaminuria (agu) Variant assessed as Somatic; impact. Aspartylglucosaminuria AGU [Ensembl, NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs1489211352 RCV001147343 CA358784514 |
60 | G>S | Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1553994830 RCV000665880 |
64 | C>missing | Aspartylglucosaminuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000049347 CA144012 rs386833419 |
64 | C>* | Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000049348 rs386833420 RCV000724147 |
67 | E>missing | Aspartylglucosaminuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001229528 rs1736955435 |
70 | D>missing | Aspartylglucosaminuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000761415 rs1560950739 |
72 | S>* | Aspartylglucosaminuria [ClinVar] | Yes |
ClinVar dbSNP |
|
CA114062 RCV000000253 VAR_005070 rs121964909 |
72 | S>P | Aspartylglucosaminuria (agu) Aspartylglucosaminuria AGU; specifically prevents the proteolytic activation cleavage of AGA in the endoplasmic reticulum [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs757065230 RCV001280251 |
75 | F>S | Aspartylglucosaminuria [ClinVar] | Yes |
ClinVar dbSNP |
|
CA110790721 RCV001147342 rs903884327 |
83 | G>E | Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs386833421 VAR_015428 RCV000049349 CA144015 |
100 | G>E | Aspartylglucosaminuria (agu) Aspartylglucosaminuria AGU [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs121964908 RCV000000247 CA114059 VAR_005071 RCV001532508 |
101 | A>V | Aspartylglucosaminuria (agu) Aspartylglucosaminuria AGU [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs1736932419 RCV001248152 |
103 | G>E | Aspartylglucosaminuria [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553994762 RCV000669303 |
103 | G>missing | Aspartylglucosaminuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000634563 rs76491548 CA3146955 |
105 | L>I | Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000984239 CA3146954 rs765070743 RCV000364848 |
107 | R>* | Aspartylglucosaminuria (agu) Aspartylglucosaminuria [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs764357395 RCV001265847 |
110 | N>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057517223 RCV000410049 |
112 | I>missing | Aspartylglucosaminuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000049350 rs386833422 |
112 | I>missing | Aspartylglucosaminuria [ClinVar] | Yes |
ClinVar dbSNP |
|
rs925345330 RCV001280250 COSM732994 CA110790293 |
112 | I>V | lung Variant assessed as Somatic; impact. prostate Aspartylglucosaminuria [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000049351 rs386833423 COSM1053482 CA144017 |
116 | R>W | Aspartylglucosaminuria (agu) Variant assessed as Somatic; 0.0 impact. endometrium Aspartylglucosaminuria [Ensembl, NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs771563230 RCV000673721 CA3146945 RCV001092652 |
122 | T>K | Aspartylglucosaminuria (agu) Aspartylglucosaminuria [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001060563 rs1736928101 |
123 | T>missing | Aspartylglucosaminuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000049352 rs386833424 |
124 | H>missing | Aspartylglucosaminuria [ClinVar] | Yes |
ClinVar dbSNP |
|
rs386833425 RCV000049353 |
125 | T>missing | Aspartylglucosaminuria [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553994755 RCV000672589 |
126 | L>missing | Aspartylglucosaminuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001036043 rs386833425 |
126 | L>missing | Aspartylglucosaminuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001251880 RCV002279539 CA3146942 rs200420067 RCV000805244 |
126 | L>V | Aspartylglucosaminuria (agu) Intellectual disability Aspartylglucosaminuria Neurodevelopmental disorder [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001230536 rs770240412 CA3146941 |
130 | E>D | Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA144022 RCV000049355 rs386833427 VAR_015429 |
135 | F>S | Aspartylglucosaminuria AGU [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000489452 RCV000634564 CA3146914 rs146381591 RCV001251883 |
146 | L>V | Intellectual disability Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs386833428 RCV002254908 RCV000049356 CA144023 |
147 | S>P | Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
VAR_033533 RCV000394488 RCV000675818 RCV000077944 CA145609 rs2228119 |
149 | T>S | Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA358783309 RCV001145410 rs1202403932 |
150 | A>V | Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000409315 CA3146912 rs745976989 |
158 | W>* | Aspartylglucosaminuria (agu) Aspartylglucosaminuria [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_005072 RCV000998324 RCV001512519 rs192195150 CA3146910 |
161 | R>Q | Aspartylglucosaminuria AGU [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000000243 VAR_005073 rs121964904 RCV000410114 CA114055 |
163 | C>S | Aspartylglucosaminuria, finnish type Aspartylglucosaminuria (agu) Aspartylglucosaminuria AGU; most frequent mutation; abolishes autocatalytic cleavage and enzyme activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
CA16040933 rs1057517329 RCV000410299 |
164 | Q>* | Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002513680 RCV000049358 rs386833430 CA144027 |
168 | W>* | Aspartylglucosaminuria (agu) Aspartylglucosaminuria Inborn genetic diseases [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000675817 RCV001559242 rs745924498 CA3146895 |
172 | I>T | Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001060299 rs367968495 CA3146893 |
175 | P>S | Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs748171793 RCV000410452 CA16040932 |
179 | C>* | Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1187962299 RCV001145409 |
179 | C>R | Aspartylglucosaminuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000487843 rs373865451 CA220246 RCV000805387 |
180 | G>R | Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1736861131 RCV001036199 |
186 | G>missing | Aspartylglucosaminuria [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3146889 rs766110192 RCV000336820 |
191 | D>H | Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA3146885 rs761243441 RCV001145408 |
200 | D>N | Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs386833431 CA144029 RCV000049359 RCV000300295 |
226 | G>D | Aspartylglucosaminuria (agu) Aspartylglucosaminuria [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA358782388 RCV000803800 rs1579042146 |
231 | I>M | Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000049361 RCV002222374 rs386833433 VAR_015430 RCV001509243 CA144032 |
252 | G>E | Aspartylglucosaminuria AGU [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
VAR_015431 rs386833432 RCV000049360 CA144031 COSM387509 |
252 | G>R | lung Aspartylglucosaminuria AGU [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1736735409 RCV001296393 |
253 | A>T | Aspartylglucosaminuria [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_015432 RCV000049362 CA144033 rs386833434 |
257 | T>I | Aspartylglucosaminuria AGU [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs1306999394 CA358782148 RCV001280248 |
259 | N>S | Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs386833435 RCV000049363 |
262 | I>* | Aspartylglucosaminuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001280247 CA3146806 rs369967348 |
264 | M>I | Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs146710132 RCV000796287 RCV000077946 CA220248 |
265 | R>C | Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000381875 rs375663828 RCV002520230 CA3146804 |
265 | R>H | Aspartylglucosaminuria Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000000252 rs794728009 |
267 | L>missing | Aspartylglucosaminuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002512599 rs386833436 RCV000000249 |
268 | P>missing | Aspartylglucosaminuria Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001148172 rs1254844989 CA358781519 |
275 | Y>C | Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002509648 RCV001280246 rs764622951 |
279 | G>missing | Aspartylglucosaminuria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001233217 rs763018918 CA3146771 |
285 | A>V | Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1736687730 RCV001057308 |
287 | Q>* | Aspartylglucosaminuria [ClinVar] | Yes |
ClinVar dbSNP |
|
rs35916166 RCV002549087 CA3146763 RCV000998323 |
301 | F>C | Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001082435 rs35916166 CA3146762 RCV000438429 |
301 | F>S | Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000000244 rs121964905 VAR_005074 CA114056 |
302 | G>R | Aspartylglucosaminuria (agu) Aspartylglucosaminuria AGU [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs121964906 RCV000000245 VAR_005075 CA114057 |
306 | C>R | Aspartylglucosaminuria (agu) Aspartylglucosaminuria AGU [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000528449 RCV002374686 CA3146732 RCV000421522 VAR_061026 rs56849061 |
322 | T>I | Aspartylglucosaminuria Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1736643790 RCV001251882 |
324 | T>I | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3146728 RCV001280245 rs373878347 |
326 | F>L | Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002279970 rs369035792 RCV001280244 CA3146727 |
327 | S>G | Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3146724 RCV001325463 rs774051527 |
329 | M>I | Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA358780158 RCV000667648 rs1201784742 |
331 | Y>* | Aspartylglucosaminuria (agu) Aspartylglucosaminuria [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs776865078 CA3146717 RCV000703347 |
344 | D>H | Aspartylglucosaminuria [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1308534107 CA358785209 |
2 | A>E | No |
ClinGen gnomAD |
|
|
CA358785210 rs1173083209 |
2 | A>T | No |
ClinGen TOPMed |
|
|
rs1560952569 CA358785205 |
3 | R>W | No |
ClinGen Ensembl |
|
|
CA3147083 rs749352651 |
5 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs771150593 CA3147084 |
5 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749352651 CA358785191 |
5 | S>W | No |
ClinGen ExAC gnomAD |
|
|
rs537097287 CA3147080 CA110791883 |
7 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3147081 rs754837208 |
7 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs376176025 CA110791876 |
8 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376176025 CA3147078 |
8 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779876912 CA3147079 |
8 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA3147074 rs753394137 |
10 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1455250192 CA358785163 |
11 | L>V | No |
ClinGen gnomAD |
|
|
CA3147070 rs759832068 |
13 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3147071 rs767943976 |
13 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3147069 rs774714950 |
14 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA358785143 rs149921310 |
15 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1304530458 CA358785138 |
16 | L>F | No |
ClinGen gnomAD |
|
|
rs1304530458 CA358785140 |
16 | L>V | No |
ClinGen gnomAD |
|
|
CA3147066 rs533283043 |
17 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3147065 rs201701066 |
18 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3147064 rs201701066 |
18 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779972747 CA3147063 |
18 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358785120 rs1454861916 |
19 | A>T | No |
ClinGen TOPMed |
|
|
CA3147061 rs758423275 |
20 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs758423275 CA358785116 |
20 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1138833 CA110791806 |
21 | V>A | No |
ClinGen Ensembl |
|
|
CA3147059 rs778918082 |
21 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs756941180 CA3147058 |
24 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs763679698 CA110791787 |
26 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA3147056 rs763679698 |
26 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs755612270 CA3147055 |
28 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs755612270 CA358785068 |
28 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA358785070 rs1419134108 |
28 | P>S | No |
ClinGen gnomAD |
|
|
rs1476405751 CA358785066 |
29 | L>V | No |
ClinGen TOPMed |
|
|
CA3147053 rs752156485 |
30 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA110791763 rs752156485 |
30 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1394828381 CA358785042 |
33 | T>S | No |
ClinGen TOPMed |
|
|
rs760099526 CA3147051 |
35 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA3147048 rs766776902 |
37 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1016029425 CA110791747 |
37 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs375737342 CA358784998 |
40 | T>P | No |
ClinGen gnomAD |
|
|
CA110791746 rs375737342 |
40 | T>S | No |
ClinGen gnomAD |
|
|
CA358784990 rs1323425438 |
41 | E>G | No |
ClinGen TOPMed |
|
|
CA358784980 rs1416362585 |
43 | A>T | No |
ClinGen gnomAD |
|
|
rs1054743624 CA110790820 |
43 | A>V | No |
ClinGen TOPMed |
|
|
CA358784714 rs1394584340 |
44 | W>* | No |
ClinGen gnomAD |
|
|
CA358784639 rs1347456058 |
50 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1390593660 CA358784612 |
52 | S>F | No |
ClinGen gnomAD |
|
|
CA358784609 rs1168891401 |
53 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs750098973 CA110790813 |
53 | A>V | No |
ClinGen Ensembl |
|
|
CA3147002 rs780480789 |
54 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA3147001 rs758886928 |
56 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA110790787 rs554359822 |
57 | V>L | No |
ClinGen Ensembl |
|
|
CA3146999 rs560547845 |
59 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3146995 rs200195689 |
61 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs1272126260 CA358784480 |
62 | A>D | No |
ClinGen gnomAD |
|
|
rs1579045437 CA358784472 |
63 | M>L | No |
ClinGen Ensembl |
|
|
CA3146994 rs760773119 |
63 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 63 | M>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358784419 rs765934592 |
66 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3146993 rs765934592 |
66 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1560950756 CA358784392 |
68 | Q>E | No |
ClinGen Ensembl |
|
|
rs1433635506 CA358784352 |
70 | D>G | No |
ClinGen gnomAD |
|
|
CA3146988 rs769423815 |
74 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs757065230 CA110790729 |
75 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1435599043 CA358784236 |
79 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 79 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748002607 CA3146987 |
80 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1579045359 CA358784197 |
81 | E>D | No |
ClinGen Ensembl |
|
|
CA358784174 rs903884327 |
83 | G>A | No |
ClinGen gnomAD |
|
|
CA358784173 rs903884327 |
83 | G>V | No |
ClinGen gnomAD |
|
|
CA3146985 rs776196445 COSM3428359 |
84 | E>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA358784137 rs1182439839 |
86 | T>I | No |
ClinGen gnomAD |
|
|
rs139812241 CA3146984 |
88 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1298610588 CA358784092 |
90 | M>V | No |
ClinGen gnomAD |
|
|
rs150912713 CA3146982 |
92 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746506859 CA3146983 |
92 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA3146981 rs758907500 |
94 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA358783918 rs1455689608 |
95 | T>A | No |
ClinGen gnomAD |
|
|
CA358783901 rs1242624085 |
96 | T>S | No |
ClinGen TOPMed |
|
|
rs184672077 CA3146959 |
96 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1158333127 CA358783890 |
97 | M>T | No |
ClinGen gnomAD |
|
|
rs1442787869 CA358783864 |
98 | D>E | No |
ClinGen TOPMed |
|
|
CA358783879 rs1475457077 |
98 | D>N | No |
ClinGen gnomAD |
|
|
CA3146958 rs756377339 |
99 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs752914246 CA3146957 |
101 | A>T | Aspartylglucosaminuria (agu) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs944233648 CA110790324 |
102 | V>I | No |
ClinGen TOPMed |
|
|
CA358783792 rs1463151836 |
104 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA358783797 rs1156626784 |
104 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 104 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761804469 CA3146953 |
107 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA358783741 rs1311067831 |
108 | I>M | No |
ClinGen gnomAD |
|
|
CA3146952 rs753599179 |
110 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300076945 CA358783706 |
111 | A>P | No |
ClinGen gnomAD |
|
|
CA110790280 rs978065417 |
112 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3146950 rs763926046 |
113 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763926046 CA358783676 |
113 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358783663 rs1351511330 |
114 | V>G | No |
ClinGen gnomAD |
|
|
CA3146949 rs760486007 |
114 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA3146948 rs774967157 |
116 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs771762718 CA3146947 |
120 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1282622869 CA358783580 |
121 | H>R | No |
ClinGen TOPMed |
|
|
rs771563230 CA3146944 |
122 | T>R | Aspartylglucosaminuria (agu) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
rs368617511 CA3146943 |
125 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200420067 CA358783553 |
126 | L>I | Aspartylglucosaminuria (agu) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1180560820 CA358783544 |
127 | L>* | No |
ClinGen TOPMed |
|
|
CA358783547 rs1460079524 |
127 | L>V | No |
ClinGen TOPMed |
|
|
CA358783529 rs1342320224 |
130 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 130 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1233423494 CA358783517 |
131 | S>L | No |
ClinGen TOPMed |
|
|
CA358783522 rs1278544012 |
131 | S>T | No |
ClinGen gnomAD |
|
|
CA3146920 rs773819054 |
132 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1467200206 CA358783468 |
137 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA3146918 rs748440983 |
137 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA358783456 rs1226029954 |
138 | S>N | No |
ClinGen TOPMed |
|
|
rs370524263 CA3146916 |
138 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1251282939 CA358783441 |
139 | M>L | No |
ClinGen TOPMed |
|
|
CA358783417 rs1473223295 |
140 | G>A | No |
ClinGen gnomAD |
|
|
rs1210604464 CA358783422 |
140 | G>R | No |
ClinGen Ensembl |
|
|
rs144349742 CA3146915 |
143 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358783347 rs1225301201 |
145 | D>H | No |
ClinGen TOPMed |
|
|
rs2228119 CA358783313 |
149 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA110789675 COSM177165 rs991950983 |
152 | Q>K | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
COSM140503 CA3146913 rs202033374 |
153 | A>T | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA358783253 rs1290123495 |
158 | W>C | No |
ClinGen gnomAD |
|
|
CA358783250 rs1226418187 |
159 | L>F | No |
ClinGen gnomAD |
|
|
CA358783246 rs1264111124 |
160 | A>S | No |
ClinGen TOPMed |
|
|
rs1264111124 CA358783244 |
160 | A>T | No |
ClinGen TOPMed |
|
|
rs777637637 CA3146911 |
161 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3146909 rs767409598 |
164 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs184031039 CA3146908 |
165 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 168 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769008313 CA110789265 |
170 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769008313 CA3146899 |
170 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747339055 CA3146898 |
171 | V>F | No |
ClinGen ExAC |
|
|
rs772303261 CA3146896 |
172 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772303261 CA3146897 |
172 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779002110 CA3146894 |
173 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA358782970 rs1208226480 |
174 | D>A | No |
ClinGen TOPMed |
|
|
rs1368180620 CA358782955 |
175 | P>L | No |
ClinGen gnomAD |
|
|
CA358782932 rs1189458949 |
177 | K>R | No |
ClinGen gnomAD |
|
|
rs1246288445 CA358782917 |
178 | Y>F | No |
ClinGen gnomAD |
|
|
rs1187962299 CA358782908 |
179 | C>G | No |
ClinGen gnomAD |
|
|
rs143049880 CA110789221 |
180 | G>E | No |
ClinGen ESP |
|
|
rs1314658888 CA358782869 |
182 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs754766505 CA3146891 |
184 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA110789218 rs918235027 |
185 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 187 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1366863689 CA358782781 |
189 | K>Q | No |
ClinGen gnomAD |
|
|
rs189159117 CA3146888 |
192 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1164015533 CA358782712 |
193 | P>L | No |
ClinGen TOPMed |
|
|
rs749950004 CA3146887 |
195 | H>D | No |
ClinGen ExAC |
|
|
rs370078048 CA3146886 |
199 | E>* | Aspartylglucosaminuria (agu) [Ensembl] | No |
ClinGen ESP ExAC gnomAD |
|
rs764539498 COSM1053477 CA3146883 |
202 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3146882 rs761050749 |
202 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs985359945 CA110789180 |
203 | G>A | No |
ClinGen gnomAD |
|
|
rs985359945 CA358782580 |
203 | G>V | No |
ClinGen gnomAD |
|
|
CA358782567 rs1385115799 |
205 | D>Y | No |
ClinGen TOPMed |
|
|
CA3146880 rs772248515 |
207 | I>T | No |
ClinGen ExAC TOPMed |
|
|
CA3146881 rs775880509 |
207 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1203389089 CA358782531 |
209 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs761124709 CA3146859 |
210 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA110788677 rs1052361578 |
211 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1323509010 CA358782513 |
212 | I>L | No |
ClinGen gnomAD |
|
|
CA3146857 rs767924247 |
213 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA3146856 rs759903678 |
214 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs774485932 CA3146855 |
215 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 216 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358782486 rs1449065951 |
216 | G>R | No |
ClinGen gnomAD |
|
|
CA3146852 rs773208051 |
217 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA3146853 rs763070208 |
217 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1560947999 CA358782471 |
218 | I>T | No |
ClinGen Ensembl |
|
|
CA3146851 rs768636689 |
220 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA110788631 rs369432133 |
222 | T>I | No |
ClinGen ESP TOPMed |
|
|
CA110788606 rs1039067399 |
223 | S>F | No |
ClinGen TOPMed |
|
|
CA358782444 rs1159814969 |
223 | S>T | No |
ClinGen gnomAD |
|
|
rs947410301 CA110788589 |
224 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1247327751 CA358782426 |
226 | G>C | No |
ClinGen TOPMed |
|
|
rs1488220002 CA358782422 |
227 | I>V | No |
ClinGen TOPMed |
|
|
rs1238822496 CA358782410 |
228 | K>N | No |
ClinGen gnomAD |
|
|
CA3146848 rs745689169 |
229 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs778579846 CA3146847 |
230 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA358782394 rs1211937031 |
231 | I>L | No |
ClinGen TOPMed |
|
|
CA358782390 rs1268136616 |
231 | I>T | No |
ClinGen gnomAD |
|
|
rs1211143576 CA358782381 |
232 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
COSM208377 rs572348048 CA3146824 |
234 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs572348048 CA358782360 |
234 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3146823 rs747683614 |
234 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1428755 CA358782340 rs1295588617 |
237 | D>G | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs376464768 CA110787575 |
237 | D>Y | No |
ClinGen ESP TOPMed |
|
|
rs1432964365 CA358782331 |
238 | S>L | No |
ClinGen gnomAD |
|
|
CA110787563 rs920075436 |
239 | P>S | No |
ClinGen Ensembl |
|
|
rs1288215227 CA358782321 |
240 | I>T | No |
ClinGen gnomAD |
|
|
CA3146819 rs140889732 |
241 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3146820 rs140889732 |
241 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358782291 rs1351420899 |
245 | A>V | No |
ClinGen gnomAD |
|
|
rs1161391721 CA358782290 |
246 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1161391721 CA358782289 |
246 | Y>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 248 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3146817 rs750546930 COSM1539831 |
248 | D>Y | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs574642737 CA3146815 |
249 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3146813 rs767529944 |
250 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3146814 rs767529944 |
250 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358782224 rs1489724730 |
254 | A>G | No |
ClinGen gnomAD |
|
|
CA3146810 rs770570725 |
255 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3146811 COSM1283305 rs770570725 |
255 | A>T | autonomic_ganglia [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1579040316 CA358782192 |
256 | A>G | No |
ClinGen Ensembl |
|
|
CA358782201 rs1483532649 |
256 | A>T | No |
ClinGen gnomAD |
|
|
CA358782187 rs1579040306 |
257 | T>P | No |
ClinGen Ensembl |
|
|
CA358782164 rs1374974841 |
258 | G>E | No |
ClinGen TOPMed |
|
|
CA358782172 rs1226362869 |
258 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA358782155 rs1579040290 |
259 | N>D | No |
ClinGen Ensembl |
|
|
CA110787504 rs112527169 |
260 | G>D | No |
ClinGen Ensembl |
|
|
COSM732996 CA3146809 rs140337260 |
261 | D>N | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs772697272 CA3146808 |
262 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1219765075 CA358782094 |
262 | I>V | No |
ClinGen gnomAD |
|
|
CA3146807 rs769488537 |
263 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs372752532 CA110787490 |
264 | M>L | No |
ClinGen ESP TOPMed |
|
|
CA358782036 rs1404090170 |
264 | M>T | No |
ClinGen gnomAD |
|
|
rs375663828 CA3146805 |
265 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 269 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358781921 rs1435464381 |
269 | S>N | No |
ClinGen gnomAD |
|
|
CA3146779 rs746186336 |
270 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1210212039 CA358781605 |
270 | Y>H | No |
ClinGen TOPMed |
|
|
CA110786930 rs143248176 |
271 | Q>K | No |
ClinGen ESP |
|
|
CA3146778 rs367768477 |
278 | R>K | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 279 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199214242 CA358781463 |
279 | G>R | No |
ClinGen TOPMed |
|
|
CA358781449 rs1240471082 |
280 | E>K | No |
ClinGen TOPMed |
|
|
CA3146775 rs558350983 |
281 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA358781428 rs558350983 |
281 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA110786916 rs1000716995 |
281 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1329728711 CA358781407 |
283 | T>A | No |
ClinGen gnomAD |
|
|
CA3146770 rs763018918 |
285 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752839702 CA358781378 |
285 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs752839702 CA3146772 |
285 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3146769 rs750208695 |
289 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397348410 CA358781304 |
290 | I>T | No |
ClinGen gnomAD |
|
|
rs764956911 CA3146768 |
292 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA358781273 rs1176949460 |
293 | I>L | No |
ClinGen TOPMed |
|
|
CA3146766 rs776228749 |
293 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs761602185 CA3146767 |
293 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1391434330 CA358781258 |
294 | Q>P | No |
ClinGen gnomAD |
|
|
CA358781201 rs1464516429 |
298 | P>L | No |
ClinGen TOPMed |
|
|
rs746442850 CA3146761 |
304 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs373616948 CA3146759 |
305 | I>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358781161 rs946073343 CA110786874 |
305 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs373616948 CA3146760 |
305 | I>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373616948 CA358781160 |
305 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs946073343 CA358781162 |
305 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3146757 rs778088042 |
307 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA358781140 rs1265753273 |
308 | N>K | No |
ClinGen gnomAD |
|
|
rs371221470 CA3146756 |
308 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA110786859 rs763568779 |
312 | S>N | No |
ClinGen Ensembl |
|
|
rs761594218 CA3146755 |
313 | Y>* | No |
ClinGen ExAC |
|
|
rs149870867 CA3146753 |
314 | G>S | Aspartylglucosaminuria (agu) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA3146735 rs545064055 |
315 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 316 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3146733 rs778799941 |
318 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA358780408 rs1343069025 |
320 | L>F | No |
ClinGen TOPMed |
|
|
rs777495746 CA110786263 |
321 | S>A | No |
ClinGen Ensembl |
|
|
CA358780231 rs1394220260 |
328 | F>C | No |
ClinGen gnomAD |
|
|
CA3146725 rs540935504 |
329 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767103696 CA3146726 |
329 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3146723 rs766959253 |
331 | Y>C | No |
ClinGen ExAC |
|
|
CA3146722 rs763615962 |
334 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151105390 CA110786219 |
336 | N>H | No |
ClinGen ESP |
|
| rs760478720 | 336 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773608824 CA358780066 |
338 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3146720 rs773608824 |
338 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358780027 rs1271457785 |
340 | E>D | No |
ClinGen gnomAD |
|
|
CA3146719 rs770133728 |
341 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 346 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1184630193 CA358779918 |
346 | I>V | No |
ClinGen TOPMed |
1 associated diseases with P20933
[MIM: 208400]: Aspartylglucosaminuria (AGU)
An inborn lysosomal storage disease causing excess accumulation of glycoasparagine in the body tissues and its increased excretion in urine. Clinical features include mild to severe intellectual disability manifesting from the age of two, coarse facial features and mild connective tissue abnormalities. {ECO:0000269|PubMed:11309371, ECO:0000269|PubMed:1703489, ECO:0000269|PubMed:1904874, ECO:0000269|PubMed:2011603, ECO:0000269|PubMed:8776587, ECO:0000269|PubMed:9137882}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An inborn lysosomal storage disease causing excess accumulation of glycoasparagine in the body tissues and its increased excretion in urine. Clinical features include mild to severe intellectual disability manifesting from the age of two, coarse facial features and mild connective tissue abnormalities. {ECO:0000269|PubMed:11309371, ECO:0000269|PubMed:1703489, ECO:0000269|PubMed:1904874, ECO:0000269|PubMed:2011603, ECO:0000269|PubMed:8776587, ECO:0000269|PubMed:9137882}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for P20933
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P20933 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 3.5.1.26 | In linear amides |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| azurophil granule lumen | The volume enclosed by the membrane of an azurophil granule, a primary lysosomal granule found in neutrophil granulocytes that contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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 region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity | Catalysis of the reaction: N(4)-(beta-N-acetyl-D-glucosaminyl)-L-asparagine + H(2)O = N-acetyl-beta-D-glucosaminylamine + L-aspartate + H(+). |
| peptidase activity | Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| protein deglycosylation | The removal of sugar residues from a glycosylated protein. |
| proteolysis | The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MARKSNLPVL | LVPFLLCQAL | VRCSSPLPLV | VNTWPFKNAT | EAAWRALASG | GSALDAVESG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CAMCEREQCD | GSVGFGGSPD | ELGETTLDAM | IMDGTTMDVG | AVGDLRRIKN | AIGVARKVLE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HTTHTLLVGE | SATTFAQSMG | FINEDLSTTA | SQALHSDWLA | RNCQPNYWRN | VIPDPSKYCG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PYKPPGILKQ | DIPIHKETED | DRGHDTIGMV | VIHKTGHIAA | GTSTNGIKFK | IHGRVGDSPI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PGAGAYADDT | AGAAAATGNG | DILMRFLPSY | QAVEYMRRGE | DPTIACQKVI | SRIQKHFPEF |
| 310 | 320 | 330 | 340 | ||
| FGAVICANVT | GSYGAACNKL | STFTQFSFMV | YNSEKNQPTE | EKVDCI |