Q9Y2R9
PR
Gene name |
MRPS7 |
Protein name |
28S ribosomal protein S7, mitochondrial |
Names |
MRP-S7, S7mt, Mitochondrial small ribosomal subunit protein uS7m, bMRP-27a, bMRP27a |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51081 |
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 Q9Y2R9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3J9M | EM | 350 A | AF | 1-242 | PDB |
| 6NU2 | EM | 390 A | AF | 35-242 | PDB |
| 6NU3 | EM | 440 A | AF | 1-242 | PDB |
| 6RW4 | EM | 297 A | F | 1-242 | PDB |
| 6RW5 | EM | 314 A | F | 1-242 | PDB |
| 6VLZ | EM | 297 A | AF | 1-242 | PDB |
| 6VMI | EM | 296 A | AF | 1-242 | PDB |
| 6ZM5 | EM | 289 A | AF | 1-242 | PDB |
| 6ZM6 | EM | 259 A | AF | 1-242 | PDB |
| 6ZS9 | EM | 400 A | AF | 1-242 | PDB |
| 6ZSA | EM | 400 A | AF | 1-242 | PDB |
| 6ZSB | EM | 450 A | AF | 1-242 | PDB |
| 6ZSC | EM | 350 A | AF | 1-242 | PDB |
| 6ZSD | EM | 370 A | AF | 1-242 | PDB |
| 6ZSE | EM | 500 A | AF | 1-242 | PDB |
| 6ZSG | EM | 400 A | AF | 1-242 | PDB |
| 7A5F | EM | 440 A | F6 | 1-242 | PDB |
| 7A5G | EM | 433 A | F6 | 1-242 | PDB |
| 7A5I | EM | 370 A | F6 | 1-242 | PDB |
| 7A5K | EM | 370 A | F6 | 1-242 | PDB |
| 7L08 | EM | 349 A | AF | 1-242 | PDB |
| 7OG4 | EM | 380 A | AF | 1-242 | PDB |
| 7P2E | EM | 240 A | F | 1-242 | PDB |
| 7PNX | EM | 276 A | F | 1-242 | PDB |
| 7PNY | EM | 306 A | F | 1-242 | PDB |
| 7PNZ | EM | 309 A | F | 1-242 | PDB |
| 7PO0 | EM | 290 A | F | 1-242 | PDB |
| 7PO1 | EM | 292 A | F | 1-242 | PDB |
| 7PO2 | EM | 309 A | F | 1-242 | PDB |
| 7PO3 | EM | 292 A | F | 1-242 | PDB |
| 7QI4 | EM | 221 A | AF | 1-242 | PDB |
| 7QI5 | EM | 263 A | AF | 1-242 | PDB |
| 7QI6 | EM | 298 A | AF | 1-242 | PDB |
| 8ANY | EM | 285 A | AF | 1-242 | PDB |
| 8CSP | EM | 266 A | F | 1-242 | PDB |
| 8CSQ | EM | 254 A | F | 1-242 | PDB |
| 8CSR | EM | 254 A | F | 1-242 | PDB |
| 8CSS | EM | 236 A | F | 1-242 | PDB |
| 8CST | EM | 285 A | F | 1-242 | PDB |
| 8CSU | EM | 303 A | F | 1-242 | PDB |
| 8OIR | EM | 310 A | AF | 1-242 | PDB |
| 8OIS | EM | 300 A | AF | 1-242 | PDB |
| AF-Q9Y2R9-F1 | Predicted | AlphaFoldDB |
222 variants for Q9Y2R9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA8760156 RCV002064923 RCV000421254 RCV001775790 rs8075276 VAR_030076 |
2 | A>V | Combined oxidative phosphorylation deficiency 34 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs115047866 VAR_080411 RCV001860020 RCV002252171 CA8760444 RCV000579388 |
184 | M>V | Combined oxidative phosphorylation deficiency 34 COXPD34; results in decreased mitochondrial protein synthesis and reduced levels of respiratory complexes; MRPS7 mRNA and protein levels are reduced [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA401005856 rs8075276 |
2 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401005857 rs8075276 |
2 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401005853 rs1470737783 |
2 | A>T | No |
ClinGen TOPMed |
|
|
CA401005859 rs1056759007 |
3 | A>P | No |
ClinGen gnomAD |
|
|
CA294032049 rs1056759007 |
3 | A>S | No |
ClinGen gnomAD |
|
|
rs1221500316 CA401005862 |
3 | A>V | No |
ClinGen Ensembl |
|
|
CA294032067 rs766883967 |
4 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8760160 rs766883967 |
4 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8760159 rs773321093 |
4 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs773321093 CA8760158 |
4 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs201375481 CA294032073 |
5 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA401005874 rs1460789361 |
6 | V>A | No |
ClinGen TOPMed |
|
|
CA8760163 rs376833953 |
7 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 9 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369793292 CA294032083 |
9 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369793292 CA8760165 |
9 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755590463 CA8760166 |
9 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA401005892 rs748923000 |
10 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1356706335 CA401005894 |
10 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA401005897 CA8760169 rs756852535 |
11 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA294032113 rs907472360 |
12 | W>* | No |
ClinGen TOPMed |
|
|
CA8760171 rs200842828 |
13 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1406020989 CA401005911 |
13 | S>P | No |
ClinGen gnomAD |
|
|
CA8760170 rs200842828 |
13 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1354152759 CA401005917 |
14 | G>D | No |
ClinGen gnomAD |
|
|
rs1213440774 CA401005926 |
16 | A>S | No |
ClinGen TOPMed |
|
|
rs148590649 CA8760173 RCV001703605 |
16 | A>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs773305495 CA401005934 CA294032122 |
17 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769770368 CA8760175 |
17 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA8760177 rs763109951 |
18 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401005949 rs774900439 |
20 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA8760179 rs774900439 |
20 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8760181 rs560582238 |
21 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753160103 CA8760182 |
22 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1475202853 CA401005954 |
22 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs753358709 CA8760185 |
24 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA294032141 rs1007556191 |
24 | L>S | No |
ClinGen TOPMed |
|
|
CA8760184 rs567029950 |
24 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA401005971 rs1374116167 |
25 | Q>* | No |
ClinGen gnomAD |
|
|
CA401005984 rs778523905 |
27 | P>A | Variant assessed as Somatic; 0.0001391 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778523905 CA8760187 |
27 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142091069 CA294032551 |
30 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 31 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401006372 rs1183158987 |
34 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8760290 rs756470821 |
35 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA294032593 rs779624560 |
35 | S>R | No |
ClinGen Ensembl |
|
|
CA8760291 rs778067834 |
36 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA401006395 rs1337846183 |
37 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs749836473 CA8760292 |
38 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401006408 rs1390625158 |
39 | P>A | No |
ClinGen gnomAD |
|
|
rs745357593 CA8760295 |
42 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745357593 CA401006428 |
42 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771918823 CA8760296 |
42 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 43 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775287024 CA8760297 |
44 | P>S | No |
ClinGen ExAC |
|
|
rs1360054465 CA401006453 |
45 | L>F | No |
ClinGen gnomAD |
|
|
rs994379817 CA294032623 |
46 | I>M | No |
ClinGen Ensembl |
|
|
rs1193468485 CA401006460 |
47 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1234331303 CA401006481 |
49 | E>V | No |
ClinGen TOPMed |
|
|
CA294032630 rs1047014280 |
50 | Y>C | No |
ClinGen Ensembl |
|
|
rs956089541 CA294032636 |
52 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs761847997 CA8760301 |
52 | R>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 55 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8760302 rs765062453 |
57 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA294032650 rs888458200 |
61 | E>G | No |
ClinGen TOPMed |
|
|
COSM3796078 CA401006557 rs1484684294 |
61 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM984329 CA401006571 rs1190170328 |
62 | E>D | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1191542007 CA401006590 |
65 | V>D | No |
ClinGen gnomAD |
|
|
CA8760306 rs752942368 |
65 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756292973 CA8760307 |
66 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1414979908 CA401006595 |
66 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1414979908 CA401006594 |
66 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA401006593 rs756292973 |
66 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA8760308 rs202207744 |
67 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8760310 rs757842968 |
69 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs779285429 CA8760311 |
71 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401006636 rs1439095877 |
72 | Q>H | No |
ClinGen gnomAD |
|
|
CA401006656 rs1368837022 |
75 | K>I | No |
ClinGen gnomAD |
|
|
CA294032669 rs922145650 |
76 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs779661343 CA8760314 |
78 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771722427 CA8760313 |
78 | P>S | No |
ClinGen ExAC |
|
|
rs746689847 CA8760315 |
81 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA8760316 rs768390702 |
82 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA8760317 rs776537156 |
83 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 83 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747880019 CA401006706 |
84 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs747880019 CA8760318 |
84 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA401006707 rs1211523502 |
84 | S>Y | No |
ClinGen gnomAD |
|
|
rs1478310288 CA401006720 |
86 | F>S | No |
ClinGen gnomAD |
|
|
rs1176600378 CA401006725 |
87 | E>Q | No |
ClinGen gnomAD |
|
|
rs773023880 CA8760320 |
89 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401006742 rs1233152837 |
89 | P>S | No |
ClinGen TOPMed |
|
|
rs762815699 CA8760322 |
92 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401006774 CA8760338 rs769485564 |
92 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA8760339 rs773024263 |
93 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA8760340 rs749267277 |
96 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA401006810 rs1168799780 |
97 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA401006805 rs1409707999 |
97 | M>L | No |
ClinGen gnomAD |
|
|
CA401006804 rs1409707999 |
97 | M>V | No |
ClinGen gnomAD |
|
|
rs770835857 CA8760342 |
98 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866729091 CA294032788 |
99 | M>I | No |
ClinGen TOPMed |
|
|
rs775608433 CA8760343 |
99 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1023466799 CA294032784 |
99 | M>T | No |
ClinGen TOPMed |
|
|
rs1187207115 CA401006834 |
101 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA401006842 rs1362561958 |
102 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA294032792 rs778819673 |
110 | L>F | No |
ClinGen Ensembl |
|
|
rs1598477173 CA401006896 |
111 | M>L | No |
ClinGen Ensembl |
|
|
rs764169104 CA8760346 |
112 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401006971 rs1173814294 |
120 | R>G | No |
ClinGen gnomAD |
|
|
CA8760366 rs761981206 |
120 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399731166 CA401006988 |
122 | Q>P | No |
ClinGen gnomAD |
|
|
rs573795644 CA401006996 |
123 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs573795644 CA8760368 |
123 | F>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8760369 rs536390961 |
124 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1302426515 CA401007024 |
127 | H>D | No |
ClinGen gnomAD |
|
|
CA8760370 rs766780610 |
127 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752123153 CA8760371 |
128 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs766979108 CA294033129 |
129 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA8760373 rs766979108 |
129 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1206943814 CA401007038 |
129 | A>V | No |
ClinGen gnomAD |
|
|
rs752232648 CA8760374 |
131 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8760375 rs755782422 |
133 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA401007068 rs1432882411 |
134 | Q>R | No |
ClinGen gnomAD |
|
|
CA294033143 rs939254476 |
135 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA401007074 rs1265789265 |
135 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs145217256 CA8760377 |
137 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778630266 CA8760379 |
138 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8760380 rs745836950 |
139 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772014277 CA8760381 |
139 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA401007110 rs1324960926 |
141 | P>A | No |
ClinGen gnomAD |
|
|
rs781177627 CA8760382 |
141 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA401007115 rs1324082427 |
142 | Y>D | No |
ClinGen gnomAD |
|
|
CA401007123 rs1354526548 |
143 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA8760385 rs114963701 |
143 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8760384 rs114963701 |
143 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763207681 CA8760386 |
144 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8760387 rs771440455 |
146 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8760388 rs774812560 |
149 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1010300781 CA294033194 |
149 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8760389 rs760013433 |
151 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1489692784 CA401007180 |
152 | C>R | No |
ClinGen gnomAD |
|
|
CA401007189 rs1210839179 |
153 | E>* | No |
ClinGen gnomAD |
|
|
CA401007199 rs1250372074 |
154 | P>L | No |
ClinGen gnomAD |
|
|
CA294033221 COSM1640801 rs769068329 |
154 | P>S | stomach [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA8760390 rs147648285 |
155 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8760392 rs760241093 |
156 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs752219732 CA8760391 |
156 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs763538121 CA401007225 |
159 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA8760393 rs763538121 |
159 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs202017298 CA294033243 |
163 | K>E | No |
ClinGen 1000Genomes |
|
|
CA401007258 rs1355484172 |
164 | G>E | No |
ClinGen TOPMed |
|
|
rs1464708919 CA401007255 |
164 | G>R | No |
ClinGen gnomAD |
|
|
CA401007264 rs1459209803 |
165 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
COSM1740312 rs535244092 CA8760394 |
166 | R>C | NS [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8760395 rs375615393 |
166 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8760396 rs778721975 |
167 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA401007275 rs1329297944 |
167 | F>S | No |
ClinGen TOPMed |
|
|
rs758323165 CA8760398 |
168 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA8760397 rs187565224 |
168 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8760399 rs780035982 |
169 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8760428 rs769130683 |
170 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142241790 CA8760429 |
172 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8760431 rs377096782 |
175 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377096782 CA401007423 |
175 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401007429 rs1598481627 |
176 | D>A | No |
ClinGen Ensembl |
|
|
CA8760433 rs762459794 |
176 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8760434 rs762459794 |
176 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8760435 rs751278486 |
177 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201710175 CA294034850 |
177 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs755012112 CA8760436 |
178 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1215528 rs370949988 CA8760437 |
178 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA294034864 rs1032310076 |
179 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs752619610 CA8760438 |
179 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374174412 CA8760439 |
180 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8760440 rs374174412 |
180 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1215527 CA8760441 rs750690518 |
180 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs780517457 CA8760443 |
183 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA401007481 rs1334629857 |
185 | K>N | No |
ClinGen TOPMed |
|
|
CA8760445 rs769216446 TCGA novel |
186 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
CA294034896 rs565223609 |
189 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8760446 rs781666546 |
191 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA8760449 rs200580965 |
192 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8760448 rs769364430 |
192 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1219139373 CA401007534 |
193 | D>E | No |
ClinGen gnomAD |
|
|
rs774272289 CA8760452 |
193 | D>N | No |
ClinGen ExAC |
|
|
CA8760453 rs759411552 |
194 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA8760454 rs558297993 |
195 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1156714248 CA401007555 |
196 | H>R | No |
ClinGen TOPMed |
|
|
rs35418346 CA8760456 |
198 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8760455 rs115547615 |
198 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8760459 rs541221529 CA294034998 |
201 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs780133586 CA8760462 |
202 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA8760463 rs781486322 |
202 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780133586 CA8760460 |
202 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8760461 rs780133586 |
202 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA401007605 rs1479497816 |
205 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 209 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8760467 rs748731229 COSM562104 |
212 | A>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA401007681 rs1412354704 |
216 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA8760470 rs759219286 |
217 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA401007694 rs1465545740 |
218 | P>S | No |
ClinGen gnomAD |
|
|
CA8760473 rs373944549 |
219 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1183009798 CA401007721 |
222 | R>T | No |
ClinGen gnomAD |
|
|
rs1346398850 CA401007735 |
224 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 225 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762944168 CA8760477 |
229 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA8760478 rs115093728 |
230 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8760479 rs751801208 |
232 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8760480 rs755150022 |
234 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs767905629 CA8760481 |
234 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA8760482 rs753034365 |
235 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs116788769 CA8760483 |
236 | L>Q | No |
ClinGen 1000Genomes ExAC |
|
|
rs1045564385 CA294035159 |
237 | A>T | No |
ClinGen Ensembl |
|
|
rs902559649 CA294035164 |
239 | Y>C | No |
ClinGen TOPMed |
|
|
CA401007835 rs902559649 |
239 | Y>S | No |
ClinGen TOPMed |
|
|
CA8760486 rs756743610 |
240 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8760487 rs778531303 |
240 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745556197 CA8760488 |
242 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA401007861 rs1567818350 |
243 | W>Q | No |
ClinGen Ensembl |
|
|
rs771828845 CA8760490 |
243 | W>W | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q9Y2R9
[MIM: 617872]: Combined oxidative phosphorylation deficiency 34 (COXPD34)
An autosomal recessive disorder caused by mitochondrial dysfunction and combined respiratory chain deficiencies of complexes I, III and IV. Clinical manifestations are variable and include congenital sensorineural deafness, lactic acidemia, and progressive hepatic and renal failure. {ECO:0000269|PubMed:25556185}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disorder caused by mitochondrial dysfunction and combined respiratory chain deficiencies of complexes I, III and IV. Clinical manifestations are variable and include congenital sensorineural deafness, lactic acidemia, and progressive hepatic and renal failure. {ECO:0000269|PubMed:25556185}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q9Y2R9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Ribosomal protein S7 domain | 82 - 234 | IPR023798 |
3 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. |
| ribosome | An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| mRNA binding | Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| rRNA binding | Binding to a ribosomal RNA. |
| structural constituent of ribosome | The action of a molecule that contributes to the structural integrity of the ribosome. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| ribosomal small subunit assembly | The aggregation, arrangement and bonding together of constituent RNAs and proteins to form the small ribosomal subunit. |
| translation | The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P47150 | RSM7 | 37S ribosomal protein S7, mitochondrial | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q3T040 | MRPS7 | 28S ribosomal protein S7, mitochondrial | Bos taurus (Bovine) | PR |
| Q24186 | RpS5a | 40S ribosomal protein S5a | Drosophila melanogaster (Fruit fly) | PR |
| Q9VFE4 | RpS5b | 40S ribosomal protein S5b | Drosophila melanogaster (Fruit fly) | PR |
| Q80X85 | Mrps7 | 28S ribosomal protein S7, mitochondrial | Mus musculus (Mouse) | PR |
| Q5I0K8 | Mrps7 | 28S ribosomal protein S7, mitochondrial | Rattus norvegicus (Rat) | PR |
| P49041 | rps-5 | 40S ribosomal protein S5 | Caenorhabditis elegans | PR |
| Q498Z6 | mrps7 | 28S ribosomal protein S7, mitochondrial | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAPAVKVAR | GWSGLALGVR | RAVLQLPGLT | QVRWSRYSPE | FKDPLIDKEY | YRKPVEELTE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EEKYVRELKK | TQLIKAAPAG | KTSSVFEDPV | ISKFTNMMMI | GGNKVLARSL | MIQTLEAVKR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KQFEKYHAAS | AEEQATIERN | PYTIFHQALK | NCEPMIGLVP | ILKGGRFYQV | PVPLPDRRRR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FLAMKWMITE | CRDKKHQRTL | MPEKLSHKLL | EAFHNQGPVI | KRKHDLHKMA | EANRALAHYR |
| WW |