Q7Z2W9
Gene name |
MRPL21 |
Protein name |
39S ribosomal protein L21, mitochondrial |
Names |
L21mt, MRP-L21, Mitochondrial large ribosomal subunit protein bL21m |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:219927 |
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
61 structures for Q7Z2W9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3J7Y | EM | 340 A | S | 1-205 | PDB |
| 3J9M | EM | 350 A | S | 1-205 | PDB |
| 5OOL | EM | 306 A | S | 1-205 | PDB |
| 5OOM | EM | 303 A | S | 1-205 | PDB |
| 6I9R | EM | 390 A | S | 1-205 | PDB |
| 6NU2 | EM | 390 A | S | 49-204 | PDB |
| 6NU3 | EM | 440 A | S | 1-205 | PDB |
| 6VLZ | EM | 297 A | S | 1-205 | PDB |
| 6VMI | EM | 296 A | S | 1-205 | PDB |
| 6ZM5 | EM | 289 A | S | 1-205 | PDB |
| 6ZM6 | EM | 259 A | S | 1-205 | PDB |
| 6ZS9 | EM | 400 A | XS | 1-205 | PDB |
| 6ZSA | EM | 400 A | XS | 1-205 | PDB |
| 6ZSB | EM | 450 A | XS | 1-205 | PDB |
| 6ZSC | EM | 350 A | XS | 1-205 | PDB |
| 6ZSD | EM | 370 A | XS | 1-205 | PDB |
| 6ZSE | EM | 500 A | XS | 1-205 | PDB |
| 6ZSG | EM | 400 A | XS | 1-205 | PDB |
| 7A5F | EM | 440 A | S3 | 1-205 | PDB |
| 7A5G | EM | 433 A | S3 | 1-205 | PDB |
| 7A5H | EM | 330 A | S | 1-205 | PDB |
| 7A5I | EM | 370 A | S3 | 1-205 | PDB |
| 7A5J | EM | 310 A | S | 1-205 | PDB |
| 7A5K | EM | 370 A | S3 | 1-205 | PDB |
| 7L08 | EM | 349 A | S | 1-205 | PDB |
| 7L20 | EM | 315 A | S | 1-205 | PDB |
| 7O9K | EM | 310 A | S | 1-205 | PDB |
| 7O9M | EM | 250 A | S | 1-205 | PDB |
| 7ODR | EM | 290 A | S | 1-205 | PDB |
| 7ODS | EM | 310 A | S | 1-205 | PDB |
| 7ODT | EM | 310 A | S | 1-205 | PDB |
| 7OF0 | EM | 220 A | S | 1-205 | PDB |
| 7OF2 | EM | 270 A | S | 1-205 | PDB |
| 7OF3 | EM | 270 A | S | 1-205 | PDB |
| 7OF4 | EM | 270 A | S | 1-205 | PDB |
| 7OF5 | EM | 290 A | S | 1-205 | PDB |
| 7OF6 | EM | 260 A | S | 1-205 | PDB |
| 7OF7 | EM | 250 A | S | 1-205 | PDB |
| 7OG4 | EM | 380 A | XS | 1-205 | PDB |
| 7OI6 | EM | 570 A | S | 1-205 | PDB |
| 7OI7 | EM | 350 A | S | 1-205 | PDB |
| 7OI8 | EM | 350 A | S | 1-205 | PDB |
| 7OI9 | EM | 330 A | S | 1-205 | PDB |
| 7OIA | EM | 320 A | S | 1-205 | PDB |
| 7OIB | EM | 330 A | S | 1-205 | PDB |
| 7OIC | EM | 310 A | S | 1-205 | PDB |
| 7OID | EM | 370 A | S | 1-205 | PDB |
| 7OIE | EM | 350 A | S | 1-205 | PDB |
| 7PD3 | EM | 340 A | S | 1-205 | PDB |
| 7PO4 | EM | 256 A | S | 1-205 | PDB |
| 7QH6 | EM | 308 A | S | 1-205 | PDB |
| 7QH7 | EM | 289 A | S | 49-204 | PDB |
| 7QI4 | EM | 221 A | S | 1-205 | PDB |
| 7QI5 | EM | 263 A | S | 1-205 | PDB |
| 7QI6 | EM | 298 A | S | 1-205 | PDB |
| 8ANY | EM | 285 A | S | 1-205 | PDB |
| 8OIR | EM | 310 A | BZ | 1-205 | PDB |
| 8OIT | EM | 290 A | BZ | 1-205 | PDB |
| 8PK0 | EM | 303 A | S | 1-205 | PDB |
| 8QSJ | EM | 300 A | S | 1-205 | PDB |
| AF-Q7Z2W9-F1 | Predicted | AlphaFoldDB |
189 variants for Q7Z2W9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1193657115 CA381641108 |
2 | A>V | No |
ClinGen gnomAD |
|
|
rs1288663243 CA381641097 |
3 | A>V | No |
ClinGen gnomAD |
|
|
rs764142098 CA6153106 |
4 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA223381399 rs1016987919 |
5 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA381641064 rs765147530 |
7 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA381641057 rs553560241 |
7 | T>M | No |
ClinGen gnomAD |
|
|
CA6153102 rs765147530 |
7 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA223381369 rs553560241 |
7 | T>R | No |
ClinGen gnomAD |
|
|
CA223381356 rs933595985 |
8 | V>D | No |
ClinGen TOPMed |
|
|
rs1344197380 CA381641053 |
8 | V>F | No |
ClinGen TOPMed |
|
|
CA6153098 rs200690672 |
9 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381641038 rs200690672 |
9 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6153099 rs570879590 |
9 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1022959231 CA223381307 |
10 | L>* | No |
ClinGen TOPMed gnomAD |
|
|
CA381641027 rs1022959231 |
10 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA381641011 rs1477151342 |
12 | R>W | No |
ClinGen gnomAD |
|
|
CA381640998 rs1266013993 |
13 | L>P | No |
ClinGen gnomAD |
|
|
rs1594411495 CA381640963 |
17 | C>G | No |
ClinGen Ensembl |
|
|
rs774637204 CA6153094 |
17 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA223381291 rs749609896 |
18 | S>R | No |
ClinGen Ensembl |
|
|
rs1168051714 CA381640931 |
19 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA381640911 rs1448204668 |
20 | S>N | No |
ClinGen TOPMed |
|
|
rs769010155 CA6153093 |
21 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA381640879 rs1168518857 |
22 | L>P | No |
ClinGen TOPMed |
|
|
CA381640856 rs1448251563 |
24 | P>L | No |
ClinGen Ensembl |
|
|
rs374343543 CA6153092 |
24 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138824749 CA6153091 |
25 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769739650 CA6153090 |
27 | P>L | No |
ClinGen ExAC |
|
|
rs1315478106 CA381640830 |
27 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs896386997 CA381640817 |
28 | G>A | No |
ClinGen TOPMed |
|
|
CA223381234 rs896386997 |
28 | G>E | No |
ClinGen TOPMed |
|
|
rs149488370 CA6153089 |
28 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1320965412 CA381640813 |
29 | A>T | No |
ClinGen TOPMed |
|
|
rs1216118522 CA381640250 |
32 | L>F | No |
ClinGen TOPMed |
|
|
rs541342052 CA6153070 |
35 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6153071 rs541342052 |
35 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs137864766 CA6153068 |
37 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs137864766 CA381640221 |
37 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146932385 CA381640220 |
37 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146932385 CA6153067 |
37 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754802573 CA6153066 |
38 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381640206 rs376576401 |
39 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753712080 CA6153065 |
39 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA6153063 rs755730762 |
40 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA6153062 rs750045430 |
40 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1239514766 CA381640193 |
42 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA6153061 rs767047685 |
42 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482621381 CA381640183 |
43 | S>N | No |
ClinGen gnomAD |
|
|
CA6153060 rs756815802 |
45 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA6153059 rs752038568 |
46 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381640166 rs1289582426 |
46 | Y>H | No |
ClinGen TOPMed |
|
|
rs763482916 CA6153057 |
49 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767865918 CA6153032 |
50 | Y>* | No |
ClinGen ExAC TOPMed |
|
|
CA6153034 rs371118102 |
50 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147848594 CA6153030 |
52 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6153031 rs773363270 |
52 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA223375818 rs1012846406 |
54 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA381640105 rs1336580784 |
54 | T>I | No |
ClinGen TOPMed |
|
|
rs1241617344 CA381640097 |
56 | L>V | No |
ClinGen TOPMed |
|
|
rs1313700004 CA381640081 |
58 | S>L | No |
ClinGen gnomAD |
|
|
CA6153027 rs769601533 |
59 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1350556027 CA381640070 |
60 | P>R | No |
ClinGen TOPMed |
|
|
rs745700362 CA6153026 |
61 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381640067 rs1262157252 |
61 | W>R | No |
ClinGen gnomAD |
|
|
CA6153025 rs148367955 |
64 | V>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6153024 rs747939629 |
68 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6153023 rs746668276 |
69 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381640015 rs1402327414 |
69 | P>Q | No |
ClinGen gnomAD |
|
|
CA6153022 rs777206792 |
72 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381639987 rs1385914356 |
73 | T>I | No |
ClinGen gnomAD |
|
|
rs371624461 CA223375795 |
73 | T>P | No |
ClinGen TOPMed |
|
|
rs371624461 CA381639990 |
73 | T>S | No |
ClinGen TOPMed |
|
|
CA381639984 rs368027804 |
74 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368027804 CA6153020 |
74 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1341918165 CA381639974 |
75 | H>Q | No |
ClinGen Ensembl |
|
|
rs1177004716 CA381639968 |
76 | H>R | No |
ClinGen TOPMed |
|
|
CA223375791 rs1006140882 |
77 | A>T | No |
ClinGen TOPMed |
|
|
CA381639944 rs1347658916 |
78 | E>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 80 | V>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140815939 CA6152992 |
80 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764238493 CA6152991 |
82 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6152990 rs759410925 |
83 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA223374725 rs1013100011 |
85 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6152987 rs760500617 |
88 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772825939 CA6152986 |
89 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6152985 rs150988778 |
89 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768274589 CA6152982 |
90 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6152983 rs200445060 |
90 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764557428 CA223374681 |
93 | G>A | No |
ClinGen Ensembl |
|
| TCGA novel | 93 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6152979 rs756526515 |
93 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs746187003 CA6152978 |
95 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381639838 rs1486930542 |
95 | L>V | No |
ClinGen gnomAD |
|
|
rs1566415792 CA381639825 |
97 | A>T | No |
ClinGen Ensembl |
|
|
CA6152976 rs757355551 |
98 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751820032 CA6152975 |
99 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs751820032 CA381639810 |
99 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 100 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381639806 rs1594405348 |
100 | H>P | No |
ClinGen Ensembl |
|
|
CA381639794 rs1225047141 |
101 | F>L | No |
ClinGen gnomAD |
|
|
rs764066653 CA6152974 |
102 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs564042523 CA6152972 |
104 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs148535951 COSM245773 CA6152971 |
104 | R>H | lung prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA381639765 rs1399177148 |
106 | W>* | No |
ClinGen gnomAD |
|
|
CA381639746 rs1358314498 |
108 | V>G | No |
ClinGen gnomAD |
|
|
CA381639751 rs1456010809 |
108 | V>M | No |
ClinGen gnomAD |
|
|
CA6152968 rs578139438 |
114 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6152967 rs553569438 |
116 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6152965 rs768253705 |
121 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs372240224 CA6152964 |
123 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA381639617 rs1566415696 |
128 | I>F | No |
ClinGen Ensembl |
|
|
CA223374612 COSM2043062 rs992841927 |
129 | R>* | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs143584803 CA6152961 |
129 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746382949 CA6152960 |
130 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1375362651 CA381639608 |
130 | L>Q | No |
ClinGen gnomAD |
|
|
rs1594405221 CA381639591 |
132 | K>N | No |
ClinGen Ensembl |
|
|
CA6152959 rs781353875 |
132 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1332146727 CA381639568 |
135 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1332146727 CA381639569 |
135 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6152940 rs373658531 |
136 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6152939 rs373658531 |
136 | V>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6152938 rs772240021 |
138 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA381639544 rs1330737365 |
139 | D>E | No |
ClinGen gnomAD |
|
|
rs748370669 CA6152937 |
139 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778903810 CA6152936 |
140 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755121519 CA381639537 |
140 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA381639540 rs1356813251 |
140 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM1298528 rs750300527 CA6152934 |
141 | F>L | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs750300527 CA223372996 |
141 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA6152932 rs757166826 COSM297129 |
142 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6152933 rs781241516 |
142 | T>P | No |
ClinGen ExAC |
|
|
CA6152928 rs752456287 |
144 | L>F | No |
ClinGen ExAC |
|
|
rs752456287 CA6152929 |
144 | L>I | No |
ClinGen ExAC |
|
|
CA6152925 rs771419233 |
145 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA6152924 rs771419233 |
145 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA223372961 rs1024986320 |
146 | K>E | No |
ClinGen Ensembl |
|
|
CA6152922 rs773495806 |
146 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs772435666 CA6152920 |
147 | P>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 147 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs370223908 | 149 | L>= | Variant assessed as Somatic; 0.000231 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381639495 rs1277909402 |
149 | L>V | No |
ClinGen gnomAD |
|
|
CA6152917 rs768600289 |
150 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 151 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773763327 CA223372772 |
152 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs773763327 CA6152904 |
152 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1594402703 CA381639451 |
154 | V>F | No |
ClinGen Ensembl |
|
|
rs374183424 CA6152902 |
155 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA381639447 rs374183424 |
155 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6152900 rs371171289 |
155 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371171289 CA6152901 |
155 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381639444 rs1256468753 |
156 | V>I | No |
ClinGen TOPMed |
|
|
CA223372760 rs887434660 |
157 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA381639425 rs1214752755 |
159 | T>A | No |
ClinGen TOPMed |
|
|
rs749477981 CA6152899 |
159 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6152898 rs775584446 |
161 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA381639414 rs1360218197 |
161 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA381639383 rs746939119 |
165 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA381639387 rs1365088180 |
165 | E>K | No |
ClinGen gnomAD |
|
|
CA6152896 rs746939119 |
165 | E>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 166 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747901180 CA6152893 |
167 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs528356268 CA6152894 |
167 | W>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA223372729 rs770518415 |
172 | M>K | No |
ClinGen gnomAD |
|
|
CA381639337 rs770518415 |
172 | M>T | No |
ClinGen gnomAD |
|
|
CA223372732 rs865881697 |
172 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs199675137 CA6152892 |
173 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381639315 rs1262185612 |
175 | R>K | No |
ClinGen gnomAD |
|
|
CA381639301 rs1203659803 |
177 | R>K | No |
ClinGen gnomAD |
|
|
rs1244182671 CA381639275 |
180 | F>L | No |
ClinGen gnomAD |
|
|
CA381639264 rs1332698133 |
182 | K>E | No |
ClinGen gnomAD |
|
|
rs140044531 CA6152891 |
183 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs35283923 CA6152834 |
186 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs986218392 CA223372041 |
187 | T>M | No |
ClinGen Ensembl |
|
|
rs762955978 CA6152832 |
188 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA381638634 rs1265903244 |
189 | P>L | No |
ClinGen gnomAD |
|
|
CA6152831 rs775093931 |
189 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA381638613 rs1346559514 |
193 | L>F | No |
ClinGen TOPMed |
|
|
rs201987235 CA223372026 |
194 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6152829 rs745515841 |
194 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs971909311 CA223372015 |
195 | I>R | No |
ClinGen Ensembl |
|
|
CA6152828 rs780865180 |
197 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA6152826 rs200169733 |
199 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1370409159 CA381638561 |
201 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA381638560 rs1370409159 |
201 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs758764572 CA6152824 |
202 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6152825 rs375095771 |
202 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs139341584 CA6152822 |
203 | C>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6152819 rs766753927 |
206 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA6152817 rs750406393 |
206 | L>W | No |
ClinGen ExAC gnomAD |
No associated diseases with Q7Z2W9
No regional properties for Q7Z2W9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q7Z2W9 | |||
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 large ribosomal subunit | The larger of the two subunits of a mitochondrial ribosome. Two sites on the ribosomal large subunit are involved in translation: the aminoacyl site (A site) and peptidyl site (P site). |
| 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 |
|---|---|
| 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. |
1 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. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAASSLTVTL | GRLASACSHS | ILRPSGPGAA | SLWSASRRFN | SQSTSYLPGY | VPKTSLSSPP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| WPEVVLPDPV | EETRHHAEVV | KKVNEMIVTG | QYGRLFAVVH | FASRQWKVTS | EDLILIGNEL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DLACGERIRL | EKVLLVGADN | FTLLGKPLLG | KDLVRVEATV | IEKTESWPRI | IMRFRKRKNF |
| 190 | 200 | ||||
| KKKRIVTTPQ | TVLRINSIEI | APCLL |