P83111
Gene name |
LACTB |
Protein name |
Serine beta-lactamase-like protein LACTB, mitochondrial |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:114294 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
5 structures for P83111
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7ULW | EM | 310 A | A/B/C/D/E/F | 97-547 | PDB |
| 7V1Y | EM | 282 A | A/B/C/D | 63-547 | PDB |
| 7V1Z | EM | 298 A | A/B/C/D | 63-547 | PDB |
| 7V21 | EM | 308 A | A/B/C/D | 63-547 | PDB |
| AF-P83111-F1 | Predicted | AlphaFoldDB |
451 variants for P83111
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA392719283 rs1318497200 |
2 | Y>* | No |
ClinGen gnomAD |
|
|
rs745611187 CA7601219 |
2 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1260013052 CA392719289 |
3 | R>Q | No |
ClinGen gnomAD |
|
|
rs771795019 CA392719288 |
3 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775466256 CA392719296 |
4 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA7601221 rs775466256 |
4 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA392719312 CA7601223 rs556450517 |
5 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs34317102 CA392719305 CA7601222 |
5 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA392719308 rs1453922185 |
5 | M>T | No |
ClinGen gnomAD |
|
|
CA392719303 rs34317102 |
5 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1410523635 CA392719320 CA392719319 |
6 | S>* | No |
ClinGen gnomAD |
|
|
CA392719322 rs1410523635 |
6 | S>L | No |
ClinGen gnomAD |
|
|
rs776188282 CA7601224 |
7 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA392719346 rs1350934455 |
9 | T>A | No |
ClinGen gnomAD |
|
|
CA392719361 rs1368111153 |
10 | A>D | No |
ClinGen gnomAD |
|
|
rs1324528387 CA392719357 |
10 | A>T | No |
ClinGen gnomAD |
|
|
CA392719364 rs1368111153 |
10 | A>V | No |
ClinGen gnomAD |
|
|
CA7601225 rs761314159 |
11 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA272039337 rs1019486651 |
11 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs761314159 CA392719368 |
11 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1595712120 CA392719379 |
12 | A>G | No |
ClinGen Ensembl |
|
|
CA7601226 rs764809586 |
12 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7601227 rs750094530 |
13 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392719389 rs1215464278 |
13 | A>V | No |
ClinGen gnomAD |
|
|
CA7601229 rs767825159 |
14 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392719408 rs1468824714 |
15 | P>H | No |
ClinGen gnomAD |
|
|
rs1234763364 CA392719403 |
15 | P>T | No |
ClinGen gnomAD |
|
|
RCV000957298 CA210225 RCV000201410 CA7601230 rs34925488 |
16 | G>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7601232 rs778350908 |
17 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA7601231 rs139879323 |
17 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7601233 rs753912650 |
21 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757436737 CA392719482 |
21 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA7601234 rs757436737 |
21 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 24 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs34297800 CA7601235 RCV000957299 |
25 | R>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7601236 rs34297800 |
25 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs926506385 CA272039425 |
27 | V>I | No |
ClinGen TOPMed |
|
|
CA392719540 rs1439603440 |
30 | R>C | No |
ClinGen gnomAD |
|
|
CA392719557 rs1048982587 |
33 | L>V | No |
ClinGen TOPMed |
|
|
CA7601238 rs779768860 |
34 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392719561 rs1409806641 |
34 | P>T | No |
ClinGen TOPMed |
|
|
CA392719581 rs1334088859 |
37 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA392719579 rs1291347840 |
37 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA392719578 rs1291347840 |
37 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA392719588 rs1487375349 |
38 | H>R | No |
ClinGen TOPMed |
|
|
CA392719604 CA7601240 rs768408264 |
40 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275231905 CA392719598 |
40 | W>R | No |
ClinGen gnomAD |
|
|
CA272039456 rs908723529 |
41 | V>G | No |
ClinGen Ensembl |
|
|
rs1330668515 CA392719641 |
47 | G>R | No |
ClinGen TOPMed |
|
|
CA272039474 rs1040216846 |
51 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1417685394 CA392719665 |
51 | A>V | No |
ClinGen gnomAD |
|
|
CA392719667 rs1454778096 |
52 | L>I | No |
ClinGen gnomAD |
|
|
CA272039502 rs901669698 |
53 | G>A | No |
ClinGen gnomAD |
|
|
CA392719674 rs901669698 |
53 | G>E | No |
ClinGen gnomAD |
|
|
rs761260684 CA7601242 CA392719673 |
53 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761260684 CA272039497 |
53 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392719679 rs1595712251 |
54 | V>A | No |
ClinGen Ensembl |
|
|
rs1009327150 CA272039503 |
57 | A>G | No |
ClinGen Ensembl |
|
|
CA272039504 rs1009327150 |
57 | A>V | No |
ClinGen Ensembl |
|
|
CA392719707 rs1421003653 |
59 | G>R | No |
ClinGen gnomAD |
|
|
CA392719716 rs1455519051 |
61 | R>G | No |
ClinGen TOPMed |
|
|
rs1566988356 CA392719731 |
63 | A>P | No |
ClinGen Ensembl |
|
|
rs1021095638 CA272039509 |
63 | A>V | No |
ClinGen Ensembl |
|
|
rs769320798 CA7601243 |
64 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA272039517 rs1008166998 |
65 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 66 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA272039550 rs966582560 |
68 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs966582560 CA392719761 |
68 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1000558324 CA272039548 |
68 | S>P | No |
ClinGen Ensembl |
|
|
CA7601245 rs762573699 |
70 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs772833685 CA7601244 |
70 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA392719774 rs1337522339 |
71 | A>S | No |
ClinGen gnomAD |
|
|
CA392719777 rs1214119006 |
71 | A>V | No |
ClinGen gnomAD |
|
|
CA272039559 rs1033334829 |
72 | P>L | No |
ClinGen gnomAD |
|
|
rs1434681792 CA392719779 |
72 | P>T | No |
ClinGen gnomAD |
|
|
rs1209124514 CA392719783 |
73 | D>N | No |
ClinGen gnomAD |
|
|
rs1257289041 CA392719791 |
74 | P>T | No |
ClinGen gnomAD |
|
|
CA392719800 rs1595712310 |
75 | E>A | No |
ClinGen Ensembl |
|
|
CA272039573 rs992409261 |
77 | S>* | No |
ClinGen Ensembl |
|
|
CA272039568 rs959647146 |
77 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1240934900 CA392719822 |
79 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1465997745 CA392719826 |
80 | A>T | No |
ClinGen TOPMed |
|
|
CA392719831 rs1371217657 |
80 | A>V | No |
ClinGen gnomAD |
|
|
rs1474135633 CA392719832 |
81 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1231666157 CA392719858 |
84 | Q>H | No |
ClinGen TOPMed |
|
|
rs1258352731 CA392719856 |
84 | Q>L | No |
ClinGen TOPMed |
|
| TCGA novel | 84 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1330933766 CA392719877 |
87 | S>P | No |
ClinGen TOPMed |
|
|
CA392719890 rs1395243046 |
89 | A>S | No |
ClinGen gnomAD |
|
|
rs1566988427 CA392719893 |
89 | A>V | No |
ClinGen Ensembl |
|
|
CA392719898 rs767923145 |
90 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7601246 rs767923145 |
90 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7601248 rs761116317 |
92 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA392719914 rs1320187078 |
93 | P>A | No |
ClinGen gnomAD |
|
|
CA392719918 rs1324631782 |
93 | P>R | No |
ClinGen gnomAD |
|
|
CA392719913 rs1320187078 |
93 | P>T | No |
ClinGen gnomAD |
|
|
CA272039655 rs931376974 |
95 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA272039684 rs943328168 |
96 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA272039683 rs943328168 |
96 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs757381709 CA272039675 |
96 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs757381709 CA7601251 |
96 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA392719939 rs1354862239 |
97 | A>E | No |
ClinGen gnomAD |
|
|
CA392719937 rs1354862239 |
97 | A>V | No |
ClinGen gnomAD |
|
|
rs1282705282 CA392719948 |
99 | P>S | No |
ClinGen gnomAD |
|
|
CA7601253 rs750643781 |
101 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs992430035 CA272039723 |
103 | C>W | No |
ClinGen TOPMed |
|
|
rs780326976 CA7601255 |
103 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1319732758 CA392719988 |
105 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs917770897 CA272039734 |
105 | A>V | No |
ClinGen TOPMed |
|
|
CA7601256 rs746721789 |
106 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA7601258 rs781063730 |
107 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1160089168 CA392720151 |
108 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1400065234 CA392720155 |
108 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA392720154 rs1382642791 |
108 | I>S | No |
ClinGen gnomAD |
|
|
CA392720153 rs1382642791 |
108 | I>T | No |
ClinGen gnomAD |
|
|
rs748119566 CA7601259 |
109 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA392720164 rs1396751227 |
110 | S>G | No |
ClinGen gnomAD |
|
|
CA392720174 rs1344931866 |
111 | S>N | No |
ClinGen TOPMed |
|
|
CA392720187 rs1302936074 |
113 | D>Y | No |
ClinGen gnomAD |
|
|
CA392720207 rs748838431 |
116 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA7601262 rs748838431 |
116 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA272039777 rs201581882 |
117 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201581882 CA7601263 |
117 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1214827658 CA392720217 |
118 | I>V | No |
ClinGen gnomAD |
|
|
rs1236422103 CA392720223 |
119 | K>E | No |
ClinGen gnomAD |
|
|
rs1275670265 CA392720228 |
119 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA392720256 rs1368705030 |
122 | V>M | No |
ClinGen TOPMed |
|
|
CA7601291 rs553328061 |
123 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA392720279 rs1229053497 |
126 | G>S | No |
ClinGen gnomAD |
|
|
CA7601294 rs775511153 |
127 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456599781 CA392720289 |
127 | I>M | No |
ClinGen TOPMed |
|
|
CA272040331 rs775511153 |
127 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 129 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 131 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1595712790 CA392720313 |
131 | V>G | No |
ClinGen Ensembl |
|
|
CA272040360 rs910930306 |
134 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA392720330 rs1211288563 |
134 | D>V | No |
ClinGen gnomAD |
|
|
rs1259387551 CA392720336 |
135 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 137 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458834497 CA392720373 |
140 | S>* | No |
ClinGen TOPMed |
|
|
CA7601296 rs767735544 |
141 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1194766963 CA392721233 |
144 | G>S | No |
ClinGen TOPMed |
|
|
CA7601313 rs759627744 |
144 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA7601314 rs767680456 |
146 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1472079411 CA392721333 |
147 | D>E | No |
ClinGen gnomAD |
|
|
rs752950180 CA7601315 |
147 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA392721378 rs1347424920 |
149 | E>D | No |
ClinGen gnomAD |
|
|
CA392721367 rs1444806023 |
149 | E>Q | No |
ClinGen TOPMed |
|
|
rs760433188 CA7601316 |
151 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 152 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA272044169 rs528872860 |
152 | V>I | No |
ClinGen 1000Genomes |
|
|
rs1387240178 CA392721439 |
153 | P>A | No |
ClinGen gnomAD |
|
|
CA392721468 rs1419045863 |
154 | C>W | No |
ClinGen gnomAD |
|
|
rs1261729823 CA392721471 |
155 | K>E | No |
ClinGen TOPMed |
|
|
CA272044179 rs994505528 |
157 | E>A | No |
ClinGen gnomAD |
|
|
CA392721489 rs1368336615 |
157 | E>D | No |
ClinGen gnomAD |
|
|
CA392721487 rs994505528 |
157 | E>G | No |
ClinGen gnomAD |
|
|
rs1223247483 CA392721496 |
158 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 160 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392721508 rs1218382630 |
160 | M>T | No |
ClinGen gnomAD |
|
|
rs763998435 CA7601317 |
161 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392721515 rs1318554352 |
161 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA272044196 rs141345466 |
163 | A>V | No |
ClinGen ESP |
|
|
CA392721529 rs1213516285 |
164 | S>G | No |
ClinGen gnomAD |
|
|
CA392721543 rs1428842499 |
166 | S>R | No |
ClinGen TOPMed |
|
|
CA7601318 rs753707105 |
167 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 168 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 169 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1408206470 CA392721586 |
171 | M>I | No |
ClinGen TOPMed |
|
|
CA392721579 rs1215652228 |
171 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs757284857 CA7601319 |
175 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1488296899 CA392721614 |
176 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA392721615 rs1488296899 |
176 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs778720573 CA7601320 |
177 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 181 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 185 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 187 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1020479854 CA272044293 |
188 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs753526102 CA7601322 |
188 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA392721703 rs1327364159 |
189 | V>A | No |
ClinGen gnomAD |
|
|
CA7601323 rs779810437 |
189 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347702142 CA392721728 |
193 | V>I | No |
ClinGen gnomAD |
|
|
CA7601324 rs746697600 |
195 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 197 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7601326 rs376443763 |
200 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA272044305 rs76611228 |
201 | Y>* | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1319073824 CA392721788 |
201 | Y>C | No |
ClinGen TOPMed |
|
|
rs1260320609 CA392721796 |
202 | E>G | No |
ClinGen TOPMed |
|
|
CA7601328 rs771415441 |
203 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA7601327 rs749623514 |
203 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs774864003 CA7601329 |
205 | K>N | No |
ClinGen ExAC |
|
|
CA392721833 rs1416524119 |
206 | V>A | No |
ClinGen gnomAD |
|
|
CA392721853 rs1291411758 |
210 | T>A | No |
ClinGen gnomAD |
|
|
rs368829983 CA7601343 |
211 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs766032294 CA7601344 |
211 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA392721863 rs751240045 |
211 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754596627 CA7601346 |
213 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7601347 rs780725423 |
216 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA392721934 COSM963664 rs1486880436 |
221 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs142422927 CA7601348 |
221 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755533365 CA272044559 |
222 | H>P | No |
ClinGen gnomAD |
|
|
CA392721948 rs755533365 |
222 | H>R | No |
ClinGen gnomAD |
|
|
CA7601349 rs757597249 |
223 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA7601350 rs779362563 |
223 | Y>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 224 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746424994 CA7601351 |
225 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA7601352 rs772125791 |
228 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392722096 rs1339821752 |
233 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA392722097 rs1339821752 |
233 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA392722129 rs1291212766 |
235 | A>D | No |
ClinGen TOPMed |
|
|
CA7601355 rs768865373 |
235 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776738955 CA7601356 |
236 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA392722161 rs1227904284 |
238 | A>T | No |
ClinGen gnomAD |
|
|
CA392722168 rs1304528542 |
238 | A>V | No |
ClinGen gnomAD |
|
|
CA7601357 rs761627317 |
239 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317496435 CA392722195 |
240 | K>R | No |
ClinGen TOPMed |
|
|
CA7601358 rs765161553 |
241 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA7601359 rs773258779 |
242 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA272044614 rs930437390 |
243 | K>Q | No |
ClinGen TOPMed |
|
|
CA272044615 rs113115012 |
245 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 247 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7601360 rs763038053 |
249 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs763038053 CA392722390 |
249 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7601361 rs765980175 |
250 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs984588886 CA272044640 |
251 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs751058328 CA7601362 |
252 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 253 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1595714841 CA392722491 |
253 | E>K | No |
ClinGen Ensembl |
|
|
rs754471151 CA7601363 |
254 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA7601364 rs34536322 |
255 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752336094 CA7601365 |
255 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA272044691 rs966323504 |
256 | S>N | No |
ClinGen Ensembl |
|
|
rs750803911 CA272044703 |
257 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401193349 CA618954928 |
259 | K>N | No |
ClinGen gnomAD |
|
|
rs779309517 CA7601368 |
259 | K>N | No |
ClinGen ExAC |
|
|
rs1566990528 CA392722627 |
259 | K>T | No |
ClinGen Ensembl |
|
|
rs746371664 CA7601369 |
260 | N>K | No |
ClinGen ExAC |
|
|
rs758834671 CA7601370 |
261 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA392722655 rs1386537785 |
261 | D>V | No |
ClinGen gnomAD |
|
|
CA392722648 rs758834671 |
261 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7601371 rs780550541 |
262 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA392722679 rs1486870661 |
264 | K>R | No |
ClinGen gnomAD |
|
|
CA7601373 rs182421897 |
265 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA272044798 rs140622762 |
267 | T>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs896127135 CA272044807 |
267 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs748363340 CA7601375 |
268 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA272044813 rs535481475 |
269 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7601376 rs535481475 |
269 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773205311 CA7601377 |
270 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs375272227 CA272044815 |
270 | E>D | No |
ClinGen Ensembl |
|
|
CA7601378 rs762857350 |
271 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1400570916 CA392722741 |
273 | A>V | No |
ClinGen TOPMed |
|
|
CA7601381 rs201235539 |
276 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774191436 CA7601380 |
276 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7601382 rs766986822 |
277 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA272044925 rs531768271 |
279 | K>E | No |
ClinGen Ensembl |
|
|
rs1160210142 CA392722805 |
283 | K>R | No |
ClinGen gnomAD |
|
|
rs572687558 CA7601384 |
284 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763742169 CA7601385 |
288 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1385287756 CA392722853 |
289 | Q>H | No |
ClinGen gnomAD |
|
|
rs750727023 CA7601386 |
289 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs758783221 CA7601387 |
290 | G>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1373922 CA7601390 rs755059722 |
291 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA392722910 rs1595714928 |
297 | K>N | No |
ClinGen Ensembl |
|
|
CA392722918 rs1486906885 |
298 | F>L | No |
ClinGen TOPMed |
|
|
CA7601394 rs770071147 |
300 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA392722937 rs1357893330 |
301 | S>* | No |
ClinGen gnomAD |
|
|
rs142381405 CA7601397 |
302 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142381405 CA7601396 |
302 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 306 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392722967 rs1183728548 |
306 | R>T | No |
ClinGen gnomAD |
|
|
CA392722971 rs1249478616 |
307 | L>I | No |
ClinGen gnomAD |
|
|
rs1225087331 CA392723006 |
311 | D>G | No |
ClinGen TOPMed |
|
|
CA392723012 rs1343308021 |
312 | P>H | No |
ClinGen TOPMed |
|
|
CA272045016 rs926728684 |
312 | P>S | No |
ClinGen Ensembl |
|
|
rs774327364 CA7601399 |
316 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774327364 CA7601398 |
316 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA272045053 rs889186456 |
317 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs771607460 CA7601400 |
317 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs199835006 CA7601412 |
318 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs146546670 CA7601413 |
319 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs111861955 CA272046497 |
319 | S>N | No |
ClinGen gnomAD |
|
|
rs1281724293 CA392723496 |
319 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1595715548 CA392723528 |
321 | F>V | No |
ClinGen Ensembl |
|
|
rs778114499 CA7601414 |
322 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs370595558 CA7601416 |
328 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392723646 rs1186944065 |
328 | Y>H | No |
ClinGen gnomAD |
|
|
CA392723684 rs1166988026 |
329 | T>N | No |
ClinGen gnomAD |
|
|
rs1595715568 CA392723672 |
329 | T>P | No |
ClinGen Ensembl |
|
|
CA7601419 rs139183549 |
332 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775519108 CA7601420 |
333 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs915088572 CA392723746 |
334 | I>L | No |
ClinGen TOPMed |
|
|
rs915088572 CA272046549 |
334 | I>V | No |
ClinGen TOPMed |
|
|
rs1261449932 CA392723768 |
335 | V>I | No |
ClinGen gnomAD |
|
|
CA392723791 rs1400694052 |
336 | E>A | No |
ClinGen gnomAD |
|
|
rs746480283 CA392723809 |
337 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746480283 CA7601421 |
337 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7601422 rs186932521 |
338 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA392723921 rs1453297412 |
343 | Y>F | No |
ClinGen gnomAD |
|
|
rs930221220 CA272046575 |
346 | Y>H | No |
ClinGen gnomAD |
|
|
CA7601426 rs533248895 |
347 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs368235977 CA392723999 |
348 | Q>* | No |
ClinGen gnomAD |
|
|
rs368235977 CA272046594 |
348 | Q>E | No |
ClinGen gnomAD |
|
|
CA7601427 rs759955286 |
348 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1199898241 CA392724056 |
350 | I>M | No |
ClinGen gnomAD |
|
|
rs1396651361 CA392724080 |
352 | H>R | No |
ClinGen TOPMed |
|
|
CA7601430 rs756244410 |
358 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7601432 rs754109761 |
360 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1454926520 CA392724186 |
361 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1454926520 CA392724184 |
361 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs757488085 CA7601433 |
362 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs912011979 CA272046675 |
363 | E>K | No |
ClinGen gnomAD |
|
|
CA7601434 rs779210852 |
364 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA392724235 rs745599979 |
364 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7601436 rs368633373 |
365 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1005141365 CA272046731 |
366 | P>S | No |
ClinGen TOPMed |
|
|
CA7601437 rs779823983 |
367 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs148264247 CA7601438 |
370 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7601462 rs777272720 |
375 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1246443177 CA392725308 |
375 | Y>C | No |
ClinGen TOPMed |
|
|
rs749030611 CA7601463 |
376 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA392725404 rs1216816022 COSM963667 |
382 | R>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs772322623 CA7601464 |
382 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282311705 CA392725453 |
386 | T>R | No |
ClinGen TOPMed |
|
|
rs1026377051 CA272056344 |
387 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs775930879 CA7601465 |
387 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1352977343 CA392725463 |
388 | Y>N | No |
ClinGen TOPMed |
|
|
CA392725480 rs1238624473 |
389 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA7601467 rs566925626 COSM288441 |
389 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA7601468 rs777310393 |
390 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs761766710 CA7601469 |
391 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA392725503 rs1347758143 |
391 | N>I | No |
ClinGen gnomAD |
|
|
CA392725515 rs1457182235 |
392 | S>F | No |
ClinGen gnomAD |
|
|
rs765406619 CA7601470 |
394 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA7601471 rs750598000 |
395 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA392725559 rs1365248997 |
396 | A>V | No |
ClinGen TOPMed |
|
|
rs1287723878 CA392725613 |
402 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs766589039 CA7601473 |
403 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1230115734 CA392725631 |
404 | V>A | No |
ClinGen gnomAD |
|
|
rs1346572766 CA392725680 |
409 | K>R | No |
ClinGen TOPMed |
|
|
CA392725724 rs1156366533 |
412 | N>S | No |
ClinGen TOPMed |
|
|
rs754787506 CA7601475 |
413 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs200127857 CA7601476 COSM216347 |
414 | M>I | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA392725749 rs1418566096 |
414 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs752732965 CA7601477 |
415 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1482304544 CA392725780 |
416 | Y>S | No |
ClinGen gnomAD |
|
|
CA7601478 rs755570176 |
417 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs966030279 CA272056425 |
417 | G>D | No |
ClinGen gnomAD |
|
|
rs748753368 CA7601480 |
418 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs770651278 CA7601481 CA392725836 |
421 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778731900 CA7601482 |
423 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1372171353 CA392725856 |
423 | F>L | No |
ClinGen gnomAD |
|
|
CA392725908 rs1307276532 |
426 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7601483 rs747339663 |
427 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA392725928 rs1216086833 |
429 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 430 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777253275 CA7601485 |
433 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA392725959 rs1215356924 |
434 | Y>C | No |
ClinGen gnomAD |
|
|
CA7601488 rs773272640 |
438 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA7601489 rs144012110 |
439 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392726000 rs1566994557 |
440 | M>T | No |
ClinGen Ensembl |
|
|
CA392725997 rs1310337345 |
440 | M>V | No |
ClinGen TOPMed |
|
|
rs766535919 CA7601490 |
441 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766535919 CA392726006 |
441 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 442 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7601491 rs751809066 |
443 | M>L | No |
ClinGen ExAC |
|
|
CA392726022 rs1281616840 |
443 | M>T | No |
ClinGen gnomAD |
|
|
rs759306733 CA7601492 |
444 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA392726058 rs1208693558 |
448 | P>L | No |
ClinGen gnomAD |
|
|
CA392726070 rs1214927582 |
450 | T>K | No |
ClinGen TOPMed |
|
|
CA392726078 rs1482676416 |
451 | E>D | No |
ClinGen gnomAD |
|
|
rs767361464 CA7601493 |
451 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA392726087 rs1188799070 |
452 | M>I | No |
ClinGen gnomAD |
|
|
rs1033243434 CA272056539 |
452 | M>V | No |
ClinGen Ensembl |
|
|
rs1363719580 CA392726107 |
455 | D>G | No |
ClinGen TOPMed |
|
|
rs1391635467 CA392726117 |
456 | K>N | No |
ClinGen gnomAD |
|
|
rs1161209543 CA392726125 |
457 | E>D | No |
ClinGen gnomAD |
|
|
rs1295977948 CA392726130 |
458 | G>D | No |
ClinGen TOPMed |
|
|
CA7601495 rs756017281 |
461 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA392726155 rs1375553290 |
462 | M>V | No |
ClinGen TOPMed |
|
|
rs1314145412 CA392726168 |
463 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA392726180 rs1416066398 |
465 | G>C | No |
ClinGen gnomAD |
|
|
CA392726181 rs753340432 |
465 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA7601497 rs753340432 |
465 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA7601498 rs756859717 |
466 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1465023956 CA392726189 |
467 | V>M | No |
ClinGen TOPMed |
|
|
VAR_018299 rs2729835 CA7601499 |
469 | R>K | does not affect serine protease activity; shows reduced tumor suppressor activity; shows reduced ability to down-regulate phosphatidylethanolamine (PtdEtn) levels [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA392726204 rs2729835 |
469 | R>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2729835 CA392726205 |
469 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1171636891 CA392726215 |
470 | K>N | No |
ClinGen TOPMed |
|
|
rs1363318456 CA392726212 |
470 | K>R | No |
ClinGen gnomAD |
|
|
CA7601501 rs746733829 |
472 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217965488 CA392726232 |
473 | Y>F | No |
ClinGen gnomAD |
|
|
rs1278619260 CA392726238 |
474 | G>R | No |
ClinGen gnomAD |
|
|
CA392726237 rs1278619260 |
474 | G>S | No |
ClinGen gnomAD |
|
|
rs1441269797 CA392726242 |
474 | G>V | No |
ClinGen gnomAD |
|
|
CA7601503 rs556545187 |
475 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1463291764 CA392726253 |
476 | C>F | No |
ClinGen gnomAD |
|
|
CA392726249 rs1259751471 |
476 | C>R | No |
ClinGen TOPMed |
|
|
CA7601506 rs773611217 |
479 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs148995972 CA7601509 |
480 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7601508 rs771050457 |
480 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs565191477 CA272056609 |
483 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA392726301 rs1276022933 |
483 | A>V | No |
ClinGen TOPMed |
|
|
CA7601512 rs767735522 |
484 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1213945081 CA392726325 |
487 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 488 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7601513 rs200480788 |
489 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7601515 rs764053537 |
491 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7601514 rs367940459 |
491 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs756804133 CA7601517 |
492 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs753760490 CA392726349 |
492 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7601516 rs753760490 |
492 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392726355 rs1330450786 |
493 | S>N | No |
ClinGen gnomAD |
|
|
rs369446060 CA7601520 |
493 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 496 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1326516034 CA392726441 COSM257261 |
502 | E>* | large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1207694084 CA392726449 |
502 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1290225341 CA392726452 |
503 | L>M | No |
ClinGen gnomAD |
|
|
CA392726468 rs1463939302 |
504 | D>G | No |
ClinGen TOPMed |
|
|
rs372475477 CA7601524 |
504 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7601527 rs770997369 |
506 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs778310160 CA7601526 |
506 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7601525 rs778310160 |
506 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7601528 rs377555615 |
507 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs377555615 CA392726496 |
507 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA392726512 rs1566994689 |
508 | I>T | No |
ClinGen Ensembl |
|
|
CA392726506 rs1184322607 |
508 | I>V | No |
ClinGen gnomAD |
|
|
CA392726554 rs1163985910 |
511 | K>N | No |
ClinGen gnomAD |
|
|
CA392726548 rs1456842586 |
511 | K>T | No |
ClinGen gnomAD |
|
|
CA272056674 rs1040866866 |
512 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1040866866 CA392726557 |
512 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1566994705 CA392726569 |
513 | P>S | No |
ClinGen Ensembl |
|
| rs1566994708 | 514 | P>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7601532 rs760488771 |
514 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs775607481 CA7601531 |
514 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA392726623 rs1185596927 |
519 | V>I | No |
ClinGen TOPMed |
|
|
CA392726626 rs1185596927 |
519 | V>L | No |
ClinGen TOPMed |
|
|
rs1287065271 CA392726656 |
522 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs761908040 CA7601535 |
526 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1358070384 CA392726720 |
527 | S>F | No |
ClinGen gnomAD |
|
|
rs749890606 CA7601538 |
530 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1483294303 CA392726796 |
532 | S>C | No |
ClinGen gnomAD |
|
|
rs1483294303 CA392726799 |
532 | S>G | No |
ClinGen gnomAD |
|
|
CA272056776 rs991619952 |
535 | L>V | No |
ClinGen TOPMed |
|
|
rs199868189 CA272056782 |
543 | K>T | No |
ClinGen Ensembl |
|
|
rs1370376699 CA392727059 |
545 | R>I | No |
ClinGen gnomAD |
|
|
CA392727067 rs1471914250 |
545 | R>S | No |
ClinGen gnomAD |
|
|
CA392727081 rs1242081508 |
546 | S>* | No |
ClinGen TOPMed |
|
|
CA7601541 rs766012269 |
547 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA272056794 rs1024403619 |
547 | D>N | No |
ClinGen TOPMed |
No associated diseases with P83111
2 regional properties for P83111
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Beta-lactamase-related | 116 - 233 | IPR001466-1 |
| domain | Beta-lactamase-related | 302 - 524 | IPR001466-2 |
2 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. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
| 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. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| lipid metabolic process | The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. |
| proteolysis | The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. |
| regulation of lipid metabolic process | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipids. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9EP89 | Lactb | Serine beta-lactamase-like protein LACTB, mitochondrial | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MYRLMSAVTA | RAAAPGGLAS | SCGRRGVHQR | AGLPPLGHGW | VGGLGLGLGL | ALGVKLAGGL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RGAAPAQSPA | APDPEASPLA | EPPQEQSLAP | WSPQTPAPPC | SRCFARAIES | SRDLLHRIKD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EVGAPGIVVG | VSVDGKEVWS | EGLGYADVEN | RVPCKPETVM | RIASISKSLT | MVALAKLWEA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GKLDLDIPVQ | HYVPEFPEKE | YEGEKVSVTT | RLLISHLSGI | RHYEKDIKKV | KEEKAYKALK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MMKENVAFEQ | EKEGKSNEKN | DFTKFKTEQE | NEAKCRNSKP | GKKKNDFEQG | ELYLREKFEN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SIESLRLFKN | DPLFFKPGSQ | FLYSTFGYTL | LAAIVERASG | CKYLDYMQKI | FHDLDMLTTV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QEENEPVIYN | RARFYVYNKK | KRLVNTPYVD | NSYKWAGGGF | LSTVGDLLKF | GNAMLYGYQV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GLFKNSNENL | LPGYLKPETM | VMMWTPVPNT | EMSWDKEGKY | AMAWGVVERK | QTYGSCRKQR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| HYASHTGGAV | GASSVLLVLP | EELDTETINN | KVPPRGIIVS | IICNMQSVGL | NSTALKIALE |
| FDKDRSD |