P51398
Gene name |
DAP3 (MRPS29) |
Protein name |
28S ribosomal protein S29, mitochondrial |
Names |
MRP-S29, S29mt, Death-associated protein 3, DAP-3, Ionizing radiation resistance conferring protein, Mitochondrial small ribosomal subunit protein mS29 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7818 |
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
43 structures for P51398
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3J9M | EM | 350 A | AX | 1-398 | PDB |
| 6NU2 | EM | 390 A | AX | 51-398 | PDB |
| 6NU3 | EM | 440 A | AX | 1-398 | PDB |
| 6RW4 | EM | 297 A | X | 1-398 | PDB |
| 6RW5 | EM | 314 A | X | 1-398 | PDB |
| 6VLZ | EM | 297 A | AX | 1-398 | PDB |
| 6VMI | EM | 296 A | AX | 1-398 | PDB |
| 6ZM5 | EM | 289 A | AX | 1-398 | PDB |
| 6ZM6 | EM | 259 A | AX | 1-398 | PDB |
| 6ZS9 | EM | 400 A | AX | 51-398 | PDB |
| 6ZSA | EM | 400 A | AX | 51-398 | PDB |
| 6ZSB | EM | 450 A | AX | 51-398 | PDB |
| 6ZSC | EM | 350 A | AX | 51-398 | PDB |
| 6ZSD | EM | 370 A | AX | 51-398 | PDB |
| 6ZSE | EM | 500 A | AX | 51-398 | PDB |
| 6ZSG | EM | 400 A | AX | 51-398 | PDB |
| 7A5F | EM | 440 A | X6 | 1-398 | PDB |
| 7A5G | EM | 433 A | X6 | 1-398 | PDB |
| 7A5I | EM | 370 A | X6 | 1-398 | PDB |
| 7A5K | EM | 370 A | X6 | 1-398 | PDB |
| 7L08 | EM | 349 A | AX | 1-398 | PDB |
| 7OG4 | EM | 380 A | AX | 1-398 | PDB |
| 7P2E | EM | 240 A | X | 1-398 | PDB |
| 7PNX | EM | 276 A | X | 1-398 | PDB |
| 7PNY | EM | 306 A | X | 1-398 | PDB |
| 7PNZ | EM | 309 A | X | 1-398 | PDB |
| 7PO0 | EM | 290 A | X | 1-398 | PDB |
| 7PO1 | EM | 292 A | X | 1-398 | PDB |
| 7PO2 | EM | 309 A | X | 1-398 | PDB |
| 7PO3 | EM | 292 A | X | 1-398 | PDB |
| 7QI4 | EM | 221 A | AX | 1-398 | PDB |
| 7QI5 | EM | 263 A | AX | 1-398 | PDB |
| 7QI6 | EM | 298 A | AX | 1-398 | PDB |
| 8ANY | EM | 285 A | AX | 1-398 | PDB |
| 8CSP | EM | 266 A | X | 1-398 | PDB |
| 8CSQ | EM | 254 A | X | 1-398 | PDB |
| 8CSR | EM | 254 A | X | 1-398 | PDB |
| 8CSS | EM | 236 A | X | 1-398 | PDB |
| 8CST | EM | 285 A | X | 1-398 | PDB |
| 8CSU | EM | 303 A | X | 1-398 | PDB |
| 8OIR | EM | 310 A | AX | 1-398 | PDB |
| 8OIS | EM | 300 A | AX | 1-398 | PDB |
| AF-P51398-F1 | Predicted | AlphaFoldDB |
333 variants for P51398
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA30989433 rs372811843 |
2 | M>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs61755343 CA1149136 |
5 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1410395608 CA342775069 COSM243954 |
5 | G>R | prostate [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs61755343 CA1149137 |
5 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772166563 CA1149139 |
7 | T>I | No |
ClinGen ExAC |
|
|
rs1432674029 CA342775098 |
8 | R>G | No |
ClinGen gnomAD |
|
|
rs775495982 CA1149140 |
10 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs760898731 CA1149141 |
12 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342775152 rs1470221997 |
13 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA342775159 rs1397911722 |
14 | H>D | No |
ClinGen gnomAD |
|
|
CA1149142 rs764152940 |
14 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1345656156 CA342763540 |
17 | D>V | No |
ClinGen gnomAD |
|
|
CA342763559 rs1278123325 |
18 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 19 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770793096 COSM243953 CA1149159 |
20 | R>C | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM896969 rs1274099843 CA342763578 |
20 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs560216710 CA342763627 |
23 | H>P | No |
ClinGen 1000Genomes |
|
|
CA30936823 rs560216710 |
23 | H>R | No |
ClinGen 1000Genomes |
|
|
rs775549205 CA1149160 |
24 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342763639 rs1557781464 |
24 | M>V | No |
ClinGen Ensembl |
|
|
CA342763687 rs1571507494 |
26 | T>I | No |
ClinGen Ensembl |
|
|
CA342763678 rs1333441738 |
26 | T>S | No |
ClinGen Ensembl |
|
|
CA342763692 rs1490553650 |
27 | Q>* | No |
ClinGen gnomAD |
|
|
CA1149164 rs145929335 |
29 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1149165 rs369774038 |
29 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1149166 rs370992701 |
31 | S>G | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 31 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200523835 CA1149167 |
32 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1149168 rs763561074 |
32 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs200523835 CA30936958 |
32 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1019811247 CA30936959 |
34 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA342763815 rs1418571902 |
35 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1365737302 CA342763810 COSM3802125 |
35 | H>Y | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1295753368 CA342763831 |
36 | L>R | No |
ClinGen gnomAD |
|
|
rs752102492 CA1149170 |
38 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs755677116 CA30936990 |
39 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755677116 CA342763871 |
39 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1149173 COSM896970 rs752327968 |
39 | Q>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs755677116 CA1149171 |
39 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1149172 rs146211768 |
39 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs925547082 CA30937004 |
40 | V>F | No |
ClinGen TOPMed |
|
|
CA342763900 rs1317435523 |
41 | P>A | No |
ClinGen gnomAD |
|
|
rs755738906 CA1149175 |
42 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs755738906 CA1149174 |
42 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA1149176 rs749012692 |
43 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs757038621 CA1149177 |
44 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs370236932 CA30937036 |
45 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1149179 rs373966776 |
45 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370236932 CA1149178 |
45 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA30937045 rs936896915 |
46 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1185138220 CA342764008 |
48 | I>V | No |
ClinGen gnomAD |
|
|
rs1385496823 CA342764034 |
49 | S>F | No |
ClinGen gnomAD |
|
|
CA1149182 rs377474444 |
50 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149919712 CA1149183 COSM1334693 |
50 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1319635829 CA342764058 |
51 | T>I | No |
ClinGen gnomAD |
|
|
CA1149184 rs773565559 |
51 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1571508083 CA342764132 |
55 | D>G | No |
ClinGen Ensembl |
|
|
CA30937095 rs201385663 |
56 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs774733542 CA1149205 |
58 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1321458708 CA342764968 |
59 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1149206 rs759970366 |
59 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1357449951 CA342764972 |
60 | G>R | No |
ClinGen TOPMed |
|
|
CA1149207 rs767996923 |
61 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1149208 rs775853011 |
61 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA342764994 rs1411226963 |
63 | H>Y | No |
ClinGen TOPMed |
|
|
rs1196459888 CA342765000 |
64 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA342765003 rs1443574435 |
64 | E>V | No |
ClinGen TOPMed |
|
|
CA342765010 rs763570884 |
65 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs879023821 CA342765008 |
65 | G>R | No |
ClinGen gnomAD |
|
|
CA30939461 rs879023821 |
65 | G>S | No |
ClinGen gnomAD |
|
|
rs763570884 CA1149210 |
65 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA342765016 rs1256281261 |
66 | Q>R | No |
ClinGen TOPMed |
|
|
CA342765032 rs1437998180 |
68 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 68 | Y>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753527370 CA1149211 |
69 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs112771778 CA1149215 |
71 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs112771778 CA1149214 |
71 | S>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1481123806 CA342765056 |
72 | P>S | No |
ClinGen gnomAD |
|
|
CA1149217 rs758124736 |
73 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1465445158 CA342765063 |
73 | Q>L | No |
ClinGen TOPMed gnomAD |
|
| rs757230517 | 73 | Q>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs757230517 | 73 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342765064 rs1465445158 |
73 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs751431768 CA1149219 |
80 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1391190094 CA342765120 |
81 | H>Q | No |
ClinGen TOPMed |
|
|
rs374151645 CA1149220 |
81 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs187192135 CA30939500 |
81 | H>Y | No |
ClinGen 1000Genomes TOPMed |
|
|
CA30939515 rs1802737 |
83 | L>F | No |
ClinGen Ensembl |
|
|
CA342765137 rs1283859728 |
84 | P>L | No |
ClinGen gnomAD |
|
|
rs749547998 CA1149222 |
86 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224997587 CA342765146 |
86 | R>H | No |
ClinGen gnomAD |
|
|
CA1149224 rs779146216 |
88 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs766255365 CA30939524 CA1149225 |
89 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342765171 rs1287295551 |
90 | Q>* | No |
ClinGen gnomAD |
|
|
rs1571538948 CA342766565 |
92 | K>E | No |
ClinGen Ensembl |
|
|
CA342766581 rs1239831582 |
93 | T>A | No |
ClinGen TOPMed |
|
|
CA1149268 rs747307421 |
94 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 95 | S>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1149269 rs755321949 |
98 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1149270 rs781700081 |
107 | E>K | No |
ClinGen ExAC |
|
|
CA1149271 rs748621976 |
108 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA1149272 rs769374598 |
110 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772546005 CA1149273 |
111 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs748979582 CA1149274 |
112 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA342766821 rs1330274964 |
115 | T>S | No |
ClinGen gnomAD |
|
|
rs1557790875 CA342766839 |
116 | S>N | No |
ClinGen Ensembl |
|
|
CA1149275 rs147691190 |
117 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1392652652 CA342766871 |
118 | A>V | No |
ClinGen gnomAD |
|
|
rs548531604 CA1149277 |
120 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 121 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342766904 rs1223493932 |
121 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 121 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1149278 rs138952726 |
122 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342766914 rs1440910600 |
122 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA30941951 rs916908988 |
123 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs567143323 CA1149279 |
124 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1204642983 CA342766933 |
124 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 127 | Y>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342766966 rs1479757419 |
127 | Y>H | No |
ClinGen gnomAD |
|
|
CA30942357 rs200299293 |
129 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1244860052 CA342767313 |
130 | K>R | No |
ClinGen gnomAD |
|
|
rs751809259 CA1149303 |
131 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA1149304 rs759703250 |
132 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1149305 rs759703250 |
132 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342767334 rs1288779045 |
134 | K>E | No |
ClinGen gnomAD |
|
|
CA1149306 rs752934883 |
134 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA342767336 rs1360393656 |
134 | K>R | No |
ClinGen gnomAD |
|
|
rs1024150834 CA30942388 |
135 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA342767347 rs1243912189 |
136 | L>P | No |
ClinGen gnomAD |
|
|
rs1358938352 CA342767345 |
136 | L>V | No |
ClinGen gnomAD |
|
|
CA1149307 rs756492236 |
138 | L>F | No |
ClinGen ExAC |
|
|
rs1294098843 CA342767374 |
140 | H>R | No |
ClinGen gnomAD |
|
|
CA1149308 rs778205623 |
141 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs971530058 CA30942400 |
142 | I>T | No |
ClinGen Ensembl |
|
|
rs756760074 CA1149310 |
144 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs756760074 CA342767400 |
144 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1186832758 CA342767416 |
146 | A>G | No |
ClinGen gnomAD |
|
|
rs1486728831 CA342767413 |
146 | A>P | No |
ClinGen gnomAD |
|
|
rs778529321 CA1149311 |
147 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369933128 CA1149312 |
148 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA30942430 rs926948524 |
149 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1149314 rs771793968 |
151 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 152 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1343886243 CA342767460 |
153 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA342767481 rs568206981 |
156 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs953049679 CA30942444 |
156 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs953049679 CA342767483 |
156 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs568206981 CA1149317 |
156 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs12096547 CA30942447 |
157 | D>N | No |
ClinGen Ensembl |
|
|
rs768367176 CA1149338 |
158 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA1149337 rs768367176 |
158 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1362816967 CA342767523 |
161 | W>G | No |
ClinGen TOPMed |
|
|
rs1362816967 CA342767522 |
161 | W>R | No |
ClinGen TOPMed |
|
|
CA1149340 rs769648994 |
162 | V>M | No |
ClinGen ExAC TOPMed |
|
|
CA1149342 rs759666299 |
165 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs772121458 CA1149344 |
166 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1149345 rs760914706 |
166 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772121458 CA1149343 |
166 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA30943448 rs200493494 |
169 | L>P | No |
ClinGen 1000Genomes |
|
|
rs202169688 CA30943449 |
170 | Q>R | No |
ClinGen 1000Genomes |
|
|
rs146215312 CA1149347 |
172 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342767618 rs1429125945 |
175 | K>R | No |
ClinGen gnomAD |
|
|
CA342767617 rs1429125945 |
175 | K>T | No |
ClinGen gnomAD |
|
|
rs762415303 CA1149348 |
176 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1178975472 CA342767629 |
177 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1149349 rs141747463 |
177 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1149350 rs141747463 COSM3979878 |
177 | R>L | ovary [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| TCGA novel | 180 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1149351 rs758021996 |
181 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1149352 rs765872809 |
182 | L>* | No |
ClinGen ExAC |
|
|
rs1327083426 CA342767669 |
183 | E>Q | No |
ClinGen gnomAD |
|
|
rs751192310 CA1149353 |
186 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30943491 rs946995325 |
189 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs754599105 CA1149354 |
189 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs201777168 CA1149355 |
192 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1232488909 CA342767746 |
194 | T>I | No |
ClinGen TOPMed |
|
|
rs748000917 CA1149356 |
194 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA1149357 rs755886022 |
196 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150553683 CA1149359 |
197 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772079263 CA1149360 |
197 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1149361 rs775592927 |
198 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA342767815 rs1451536392 |
202 | I>M | No |
ClinGen gnomAD |
|
|
CA1149395 rs752381978 |
207 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1149396 rs371263118 |
207 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752381978 CA1149394 |
207 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs545683945 CA30944391 |
208 | Y>C | No |
ClinGen Ensembl |
|
| TCGA novel | 210 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA30944400 rs975191251 |
212 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA30944409 rs760795857 |
212 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 213 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1149398 rs756999098 COSM3728009 |
213 | R>T | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs778968624 CA1149399 |
214 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA1149402 rs781370831 |
217 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1188280780 CA342767932 |
219 | G>E | No |
ClinGen gnomAD |
|
|
rs748394462 CA1149403 |
221 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748394462 CA1149404 |
221 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342767955 rs1571553195 |
223 | G>E | No |
ClinGen Ensembl |
|
|
rs1186080468 CA342767970 |
225 | V>A | No |
ClinGen TOPMed |
|
|
CA1149406 rs749717538 |
226 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452874782 CA342767972 |
226 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 227 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 228 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA30944579 rs552936757 |
231 | T>A | No |
ClinGen Ensembl |
|
|
CA342768018 rs757669207 |
231 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1149427 rs757669207 |
231 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145328544 CA342768021 |
232 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1149429 rs145328544 |
232 | R>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA30944612 rs145328544 |
232 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1149428 rs200984755 |
232 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373985177 CA1149430 |
233 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA30944628 rs867839385 |
235 | N>S | No |
ClinGen Ensembl |
|
|
CA30944632 rs868612639 |
236 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA342768055 rs1250903021 |
238 | D>V | No |
ClinGen gnomAD |
|
|
CA1149432 rs147699097 |
239 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342768062 rs1431045753 |
239 | A>S | No |
ClinGen TOPMed |
|
|
CA342768064 rs147699097 |
239 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776387238 CA1149435 |
240 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000974037 CA1149434 rs57692591 VAR_061811 |
240 | V>F | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1149436 rs761333313 |
246 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1437091159 CA342768119 |
248 | K>N | No |
ClinGen gnomAD |
|
|
CA1149439 rs371226776 |
248 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1149440 rs766481911 |
250 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA30944703 rs1802736 |
253 | L>F | No |
ClinGen Ensembl |
|
|
rs751517938 CA342768155 |
254 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1149441 rs751517938 |
254 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1149442 rs756299657 |
254 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA30944712 rs1025391605 |
255 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs764225657 CA1149443 |
257 | H>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 261 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs536698370 CA1149448 |
262 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA30944760 rs750472379 |
263 | D>G | No |
ClinGen Ensembl |
|
|
rs1305941570 CA342768222 |
264 | G>V | No |
ClinGen gnomAD |
|
|
rs780589326 CA1149449 |
266 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA342768241 rs1275503948 |
267 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1275503948 CA342768242 |
267 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs754890180 CA1149450 |
268 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1149451 rs754890180 |
268 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 271 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 271 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747840157 CA1149454 |
274 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1259275986 CA342768301 |
277 | E>Q | No |
ClinGen gnomAD |
|
|
rs1450992107 CA342768324 |
278 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs375689451 CA1149456 |
281 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1149455 rs375689451 |
281 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748905247 CA1149476 |
282 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1571562477 CA342769023 |
282 | I>T | No |
ClinGen Ensembl |
|
|
rs774233914 CA1149478 |
285 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200201625 CA342769070 |
289 | L>H | No |
ClinGen 1000Genomes TOPMed |
|
|
CA30946130 rs200201625 |
289 | L>P | No |
ClinGen 1000Genomes TOPMed |
|
|
rs947849567 CA30946133 |
291 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA342769092 rs1330963248 COSM1319909 |
292 | N>K | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA342769099 rs1557799139 |
293 | L>F | No |
ClinGen Ensembl |
|
|
rs137992488 CA30946134 |
294 | R>S | No |
ClinGen ESP gnomAD |
|
|
rs775488543 CA1149481 |
295 | K>E | No |
ClinGen ExAC |
|
|
CA1149482 rs200594001 |
296 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342769124 rs1459731258 |
297 | M>T | No |
ClinGen gnomAD |
|
|
CA342769123 rs1571562723 |
297 | M>V | No |
ClinGen Ensembl |
|
|
CA1149483 rs765328982 |
300 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs750677739 CA1149484 |
301 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1149499 rs745719677 |
303 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342769193 rs369936772 |
305 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369936772 CA1149501 |
305 | A>T | Variant assessed as Somatic; 4.675e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1477244495 CA342769197 |
306 | I>V | No |
ClinGen gnomAD |
|
|
rs769788706 CA1149503 |
307 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371707774 CA1149504 |
308 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA30946534 rs1021780329 |
309 | A>P | No |
ClinGen Ensembl |
|
|
rs79717735 CA30946552 |
310 | L>F | No |
ClinGen gnomAD |
|
|
CA342769284 rs1571564446 |
319 | P>L | No |
ClinGen Ensembl |
|
|
rs766644128 CA1149506 |
320 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759857997 CA1149508 |
320 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs766644128 CA1149507 |
320 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1149510 rs753162108 |
322 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1041724474 CA342769306 |
323 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA30946576 rs1041724474 |
323 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1228497740 CA342769310 |
324 | L>V | No |
ClinGen TOPMed |
|
|
rs1571564561 CA342769318 |
325 | P>L | No |
ClinGen Ensembl |
|
|
rs373125599 CA30946588 |
325 | P>S | No |
ClinGen Ensembl |
|
|
rs767022342 CA1149512 |
326 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA342769324 rs1276218579 |
326 | Q>H | No |
ClinGen gnomAD |
|
|
CA1149532 rs539027947 |
333 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1254239988 CA342769797 |
335 | D>N | No |
ClinGen gnomAD |
|
|
CA1149533 rs750065441 |
336 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs758012904 CA1149534 |
337 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA342769831 rs1161147412 |
340 | F>C | No |
ClinGen gnomAD |
|
|
CA342769828 rs1471502421 |
340 | F>L | No |
ClinGen gnomAD |
|
|
rs984834933 CA30949222 |
342 | P>L | No |
ClinGen Ensembl |
|
|
rs930724668 CA342769841 |
342 | P>S | No |
ClinGen gnomAD |
|
|
rs930724668 CA30949217 |
342 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1149536 rs41264967 |
345 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1300706225 CA342769869 |
347 | N>D | No |
ClinGen gnomAD |
|
|
rs1403724735 CA342769880 |
348 | Y>C | No |
ClinGen gnomAD |
|
|
rs1557805320 CA342769896 |
350 | P>R | No |
ClinGen Ensembl |
|
|
CA342769913 rs373938510 |
352 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 352 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1350365247 CA342769920 |
353 | F>L | No |
ClinGen gnomAD |
|
|
CA342769919 rs1557805366 |
353 | F>S | No |
ClinGen Ensembl |
|
|
rs940706352 CA30949229 |
356 | C>R | No |
ClinGen Ensembl |
|
|
rs771017753 CA342769949 |
357 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1149540 rs771017753 |
357 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1149541 rs150623601 |
358 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1149543 rs772402501 |
364 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342770010 rs1254420128 COSM896975 |
365 | W>* | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 366 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA30949251 rs901113004 |
367 | Q>* | No |
ClinGen Ensembl |
|
|
rs1411968226 CA342770034 |
369 | E>K | No |
ClinGen TOPMed |
|
|
CA342770436 rs1571586421 |
374 | E>A | No |
ClinGen Ensembl |
|
|
rs772026004 CA1149564 |
374 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs772026004 CA342770431 |
374 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 379 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342770572 rs1431035105 COSM529253 |
382 | F>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs747163345 CA1149566 |
382 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs769165051 CA1149568 |
383 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs148826948 CA1149570 |
385 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773568256 CA1149571 |
386 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1149572 rs762562887 |
386 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342770650 rs1571586563 |
387 | N>T | No |
ClinGen Ensembl |
|
|
CA30949762 rs953474208 |
388 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA30949756 rs1802733 |
388 | P>T | No |
ClinGen Ensembl |
|
|
CA1149576 rs575591189 |
389 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759126801 CA1149575 |
389 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA1149579 rs777818536 |
390 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 390 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA30949770 rs559561890 |
391 | L>P | No |
ClinGen Ensembl |
|
|
rs536103220 CA1149580 |
392 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1149582 rs779948728 |
393 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1149581 rs758540792 |
393 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1450821688 CA342770708 |
394 | H>Y | No |
ClinGen gnomAD |
|
|
CA1149584 rs111463064 |
395 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1149585 rs781562698 |
395 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1466143859 CA342770725 |
396 | A>V | No |
ClinGen TOPMed |
|
|
CA342770730 rs1423798192 |
397 | Y>C | No |
ClinGen gnomAD |
|
|
CA342770736 rs1351987058 |
398 | L>H | No |
ClinGen gnomAD |
|
|
CA1149586 rs748570143 |
398 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with P51398
No regional properties for P51398
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P51398 | |||
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
| mitochondrial small ribosomal subunit | The smaller of the two subunits of a mitochondrial ribosome. |
| 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. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTP binding | Binding to GTP, guanosine triphosphate. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| structural constituent of ribosome | The action of a molecule that contributes to the structural integrity of the ribosome. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| apoptotic signaling pathway | The series of molecular signals which triggers the apoptotic death of a cell. The pathway starts with reception of a signal, and ends when the execution phase of apoptosis is triggered. |
| mitochondrial translation | The chemical reactions and pathways resulting in the formation of a protein in a mitochondrion. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein; the mitochondrion has its own ribosomes and transfer RNAs, and uses a genetic code that differs from the nuclear code. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MMLKGITRLI | SRIHKLDPGR | FLHMGTQARQ | SIAAHLDNQV | PVESPRAISR | TNENDPAKHG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DQHEGQHYNI | SPQDLETVFP | HGLPPRFVMQ | VKTFSEACLM | VRKPALELLH | YLKNTSFAYP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AIRYLLYGEK | GTGKTLSLCH | VIHFCAKQDW | LILHIPDAHL | WVKNCRDLLQ | SSYNKQRFDQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PLEASTWLKN | FKTTNERFLN | QIKVQEKYVW | NKRESTEKGS | PLGEVVEQGI | TRVRNATDAV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GIVLKELKRQ | SSLGMFHLLV | AVDGINALWG | RTTLKREDKS | PIAPEELALV | HNLRKMMKND |
| 310 | 320 | 330 | 340 | 350 | 360 |
| WHGGAIVSAL | SQTGSLFKPR | KAYLPQELLG | KEGFDALDPF | IPILVSNYNP | KEFESCIQYY |
| 370 | 380 | 390 | |||
| LENNWLQHEK | APTEEGKKEL | LFLSNANPSL | LERHCAYL |