Q9BZE1
PR
Gene name |
MRPL37 (MRPL2, RPML2, HSPC235) |
Protein name |
39S ribosomal protein L37, mitochondrial |
Names |
L37mt, MRP-L37, 39S ribosomal protein L2, mitochondrial, L2mt, MRP-L2, Mitochondrial large ribosomal subunit protein mL37 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51253 |
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 Q9BZE1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3J7Y | EM | 340 A | 5 | 1-423 | PDB |
| 3J9M | EM | 350 A | 5 | 1-423 | PDB |
| 5OOL | EM | 306 A | 5 | 1-423 | PDB |
| 5OOM | EM | 303 A | 5 | 1-423 | PDB |
| 6I9R | EM | 390 A | 5 | 1-423 | PDB |
| 6NU2 | EM | 390 A | 5 | 31-422 | PDB |
| 6NU3 | EM | 440 A | 5 | 30-423 | PDB |
| 6VLZ | EM | 297 A | 5 | 1-423 | PDB |
| 6VMI | EM | 296 A | 5 | 1-423 | PDB |
| 6ZM5 | EM | 289 A | 5 | 1-423 | PDB |
| 6ZM6 | EM | 259 A | 5 | 1-423 | PDB |
| 6ZS9 | EM | 400 A | 5 | 1-423 | PDB |
| 6ZSA | EM | 400 A | 5 | 1-423 | PDB |
| 6ZSB | EM | 450 A | 5 | 1-423 | PDB |
| 6ZSC | EM | 350 A | 5 | 1-423 | PDB |
| 6ZSD | EM | 370 A | 5 | 1-423 | PDB |
| 6ZSE | EM | 500 A | 5 | 1-423 | PDB |
| 6ZSG | EM | 400 A | 5 | 1-423 | PDB |
| 7A5F | EM | 440 A | 53 | 1-423 | PDB |
| 7A5G | EM | 433 A | 53 | 1-423 | PDB |
| 7A5H | EM | 330 A | 5 | 1-423 | PDB |
| 7A5I | EM | 370 A | 53 | 1-423 | PDB |
| 7A5J | EM | 310 A | 5 | 1-423 | PDB |
| 7A5K | EM | 370 A | 53 | 1-423 | PDB |
| 7L08 | EM | 349 A | 5 | 1-423 | PDB |
| 7L20 | EM | 315 A | 5 | 1-423 | PDB |
| 7O9K | EM | 310 A | 5 | 1-423 | PDB |
| 7O9M | EM | 250 A | 5 | 1-423 | PDB |
| 7ODR | EM | 290 A | 5 | 1-423 | PDB |
| 7ODS | EM | 310 A | 5 | 1-423 | PDB |
| 7ODT | EM | 310 A | 5 | 1-423 | PDB |
| 7OF0 | EM | 220 A | 5 | 1-423 | PDB |
| 7OF2 | EM | 270 A | 5 | 1-423 | PDB |
| 7OF3 | EM | 270 A | 5 | 1-423 | PDB |
| 7OF4 | EM | 270 A | 5 | 1-423 | PDB |
| 7OF5 | EM | 290 A | 5 | 1-423 | PDB |
| 7OF6 | EM | 260 A | 5 | 1-423 | PDB |
| 7OF7 | EM | 250 A | 5 | 1-423 | PDB |
| 7OG4 | EM | 380 A | 5 | 1-423 | PDB |
| 7OI6 | EM | 570 A | 5 | 1-423 | PDB |
| 7OI7 | EM | 350 A | 5 | 1-423 | PDB |
| 7OI8 | EM | 350 A | 5 | 1-423 | PDB |
| 7OI9 | EM | 330 A | 5 | 1-423 | PDB |
| 7OIA | EM | 320 A | 5 | 1-423 | PDB |
| 7OIB | EM | 330 A | 5 | 1-423 | PDB |
| 7OIC | EM | 310 A | 5 | 1-423 | PDB |
| 7OID | EM | 370 A | 5 | 1-423 | PDB |
| 7OIE | EM | 350 A | 5 | 1-423 | PDB |
| 7PD3 | EM | 340 A | 5 | 1-423 | PDB |
| 7PO4 | EM | 256 A | 5 | 1-423 | PDB |
| 7QH6 | EM | 308 A | 5 | 1-423 | PDB |
| 7QH7 | EM | 289 A | 5 | 31-422 | PDB |
| 7QI4 | EM | 221 A | 5 | 1-423 | PDB |
| 7QI5 | EM | 263 A | 5 | 1-423 | PDB |
| 7QI6 | EM | 298 A | 5 | 1-423 | PDB |
| 8ANY | EM | 285 A | 5 | 1-423 | PDB |
| 8OIR | EM | 310 A | Bm | 1-423 | PDB |
| 8OIT | EM | 290 A | Bm | 1-423 | PDB |
| 8PK0 | EM | 303 A | 5 | 1-423 | PDB |
| 8QSJ | EM | 300 A | 5 | 1-423 | PDB |
| AF-Q9BZE1-F1 | Predicted | AlphaFoldDB |
382 variants for Q9BZE1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1198368826 CA340431058 |
2 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1316950251 CA340431045 |
2 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1198368826 CA340431052 |
2 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA864864 rs768838597 |
3 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs779067528 CA864865 |
4 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1305490434 CA340431093 |
5 | S>C | No |
ClinGen TOPMed |
|
|
rs1431452517 CA340431087 |
5 | S>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 6 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1424567539 CA340431098 COSM535579 |
6 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs748340829 CA864866 |
7 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748340829 CA864868 |
7 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA864867 rs748340829 |
7 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA864870 rs771622302 |
8 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA864869 rs761238599 |
8 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 9 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA864872 rs760014966 |
11 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA864873 rs765727547 |
12 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA864874 rs774096725 |
14 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs761384339 CA864875 |
16 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1256552701 CA340431266 |
17 | Q>K | No |
ClinGen gnomAD |
|
|
rs1434465763 CA340431277 |
17 | Q>R | No |
ClinGen TOPMed |
|
|
rs920502265 CA22688259 |
18 | L>P | No |
ClinGen TOPMed |
|
|
rs368894828 CA22688264 |
20 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA340431306 rs11544812 |
20 | L>P | No |
ClinGen gnomAD |
|
|
CA22688287 rs11544812 |
20 | L>R | No |
ClinGen gnomAD |
|
|
CA22688288 rs983215661 |
22 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs766984304 CA864876 |
22 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1481753085 CA340431319 |
23 | F>L | No |
ClinGen TOPMed |
|
|
rs763565128 CA340432274 COSM1215496 |
27 | R>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs763565128 CA22688293 |
27 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA864877 rs749961491 |
28 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340432292 rs749961491 |
28 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340432317 rs1285558409 |
29 | G>R | No |
ClinGen gnomAD |
|
|
rs950177013 CA22688319 |
30 | A>P | No |
ClinGen TOPMed |
|
| TCGA novel | 30 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340432383 rs1348014668 |
31 | Y>* | No |
ClinGen gnomAD |
|
|
CA864881 rs753804735 |
31 | Y>H | No |
ClinGen ExAC TOPMed |
|
|
CA340432459 rs1298257872 |
33 | W>* | No |
ClinGen gnomAD |
|
|
rs1397593279 CA340432527 |
35 | V>L | No |
ClinGen gnomAD |
|
|
rs1316203793 CA340432576 |
36 | R>C | No |
ClinGen TOPMed |
|
|
rs768836635 CA864883 |
37 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA864884 rs768836635 |
37 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340432680 rs1229207816 |
38 | T>M | No |
ClinGen gnomAD |
|
|
CA864885 rs758617382 |
38 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771530185 CA864888 |
42 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1311892154 CA340432815 |
42 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA864889 rs777232828 |
44 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs755799921 CA22688406 |
44 | P>L | No |
ClinGen TOPMed |
|
|
rs774146743 CA864890 |
45 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA340432888 rs1487972253 |
45 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs375873167 CA22688427 |
47 | D>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA864893 CA864892 rs200221315 |
49 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22688457 rs142672756 |
50 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1193715225 CA340433031 |
50 | Y>C | No |
ClinGen gnomAD |
|
|
CA340433015 rs1570133738 |
50 | Y>D | No |
ClinGen Ensembl |
|
| TCGA novel | 51 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA22688462 rs534430418 |
52 | I>V | No |
ClinGen 1000Genomes |
|
|
CA340433094 rs33946834 |
53 | P>A | No |
ClinGen gnomAD |
|
|
rs139501829 CA864896 |
53 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA22688497 rs33946834 |
53 | P>S | No |
ClinGen gnomAD |
|
|
rs370817567 CA864898 |
54 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA864900 rs373004778 |
55 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA864899 rs754918106 |
55 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1570133809 CA340433149 |
56 | E>* | No |
ClinGen Ensembl |
|
|
rs1377341284 CA340433164 |
57 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 58 | I>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340433226 rs1242781427 |
59 | T>N | No |
ClinGen gnomAD |
|
|
rs1353655064 CA340433240 |
60 | F>V | No |
ClinGen gnomAD |
|
|
rs1401674702 CA340433265 |
61 | A>T | No |
ClinGen gnomAD |
|
|
CA864901 rs200948036 |
61 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs11544810 CA864902 |
62 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA22688591 rs983329878 |
64 | M>K | No |
ClinGen TOPMed |
|
|
CA340433449 rs747283178 |
68 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA864904 rs747283178 |
68 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22688601 rs971192110 |
69 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
CA340433468 rs971192110 |
69 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA22688611 rs772955541 |
70 | L>V | No |
ClinGen gnomAD |
|
|
CA864905 rs760506338 |
71 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746309363 CA864907 |
72 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770488000 CA864908 |
73 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340433542 rs1425342374 |
75 | F>V | No |
ClinGen gnomAD |
|
|
CA864910 rs749656095 |
76 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA864913 rs760337070 |
77 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA864912 rs772691342 |
77 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA340433565 rs1570134017 |
78 | W>G | No |
ClinGen Ensembl |
|
|
CA340433575 rs1570134027 |
79 | D>A | No |
ClinGen Ensembl |
|
| TCGA novel | 79 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 79 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1332505986 CA340433583 |
80 | R>C | No |
ClinGen gnomAD |
|
|
rs770365522 CA864914 |
81 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA864916 rs142946413 |
82 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776194008 CA864915 |
82 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs765134043 CA864917 |
83 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs763967659 CA864920 |
85 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA864919 rs762612404 |
85 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA864922 rs757556247 |
86 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1247228611 CA340433629 |
86 | R>K | No |
ClinGen gnomAD |
|
|
CA864923 rs781415689 |
87 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1570134117 CA340433637 |
87 | F>V | No |
ClinGen Ensembl |
|
|
CA22688777 rs371086863 |
88 | Y>C | No |
ClinGen ESP |
|
|
rs371086863 CA340433646 |
88 | Y>S | No |
ClinGen ESP |
|
|
CA340433654 rs1374262615 |
89 | R>H | No |
ClinGen gnomAD |
|
|
CA340433651 rs1421160266 |
89 | R>S | No |
ClinGen gnomAD |
|
|
CA340433665 rs1557729578 |
90 | S>L | No |
ClinGen Ensembl |
|
|
CA340433673 rs1171820208 |
91 | P>L | No |
ClinGen gnomAD |
|
|
rs1465857599 CA340433669 |
91 | P>T | No |
ClinGen gnomAD |
|
|
CA340433681 rs146793580 |
92 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146793580 CA864924 |
92 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1464399705 CA340433686 |
93 | L>F | No |
ClinGen gnomAD |
|
|
rs889352213 CA340433711 |
95 | E>D | No |
ClinGen gnomAD |
|
|
rs756659431 CA864925 |
98 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 101 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM217078 rs749824318 CA864927 |
105 | Y>C | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1336553472 CA340433800 |
106 | I>T | No |
ClinGen TOPMed |
|
|
CA864928 rs768849502 |
106 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA340433813 rs1315769521 |
107 | F>L | No |
ClinGen gnomAD |
|
|
rs746663853 CA864930 |
107 | F>S | No |
ClinGen ExAC |
|
|
rs765997118 CA22688834 |
109 | H>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 111 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340433923 rs1225776844 |
112 | R>C | No |
ClinGen TOPMed |
|
|
rs776094949 CA340433963 |
114 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA864933 rs759083908 |
114 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA864932 rs776094949 |
114 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA340433978 rs1225266612 |
115 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs748563137 CA864950 |
116 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775237303 CA864935 |
116 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA340435797 rs1412156122 |
117 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs770537499 CA864951 |
120 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA340435832 rs770537499 |
120 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA340435843 rs1420339509 |
120 | A>V | No |
ClinGen gnomAD |
|
|
CA864953 rs745538389 |
122 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs769123671 CA864954 |
122 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1358832018 CA340435865 |
122 | W>R | No |
ClinGen gnomAD |
|
|
rs923480403 CA22692287 |
124 | T>P | No |
ClinGen TOPMed |
|
| TCGA novel | 125 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1242364212 CA340435969 |
126 | T>I | No |
ClinGen gnomAD |
|
|
CA864956 rs145134957 |
127 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774264524 CA864958 |
129 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767444048 CA864960 |
130 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA864959 rs761662902 |
130 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs773512249 CA864961 |
132 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22692328 rs1015380346 |
133 | P>A | No |
ClinGen Ensembl |
|
|
rs1255065299 CA340436159 |
133 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA864964 rs754010664 |
134 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143156198 CA864963 |
134 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755420468 CA864965 |
136 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs186982095 CA340436299 |
139 | L>F | No |
ClinGen 1000Genomes |
|
|
rs186982095 CA22692381 |
139 | L>I | No |
ClinGen 1000Genomes |
|
|
rs186982095 CA22692383 |
139 | L>V | No |
ClinGen 1000Genomes |
|
|
rs1467655368 CA340436325 |
140 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA864969 rs753232301 |
142 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA864970 rs758709773 |
144 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1394031205 CA340436471 |
145 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA22692437 rs929619168 |
145 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA864971 rs142769241 |
147 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 148 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201702221 CA22692467 |
148 | E>G | No |
ClinGen 1000Genomes |
|
|
rs552435929 CA22692459 |
148 | E>K | No |
ClinGen Ensembl |
|
|
rs745455760 CA864972 |
149 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA340436622 rs1306450742 |
150 | Q>E | No |
ClinGen gnomAD |
|
|
COSM681737 rs112294124 CA22692504 |
152 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA340436744 rs370161335 |
153 | C>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA864975 rs370161335 |
153 | C>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1255010466 CA340436734 |
153 | C>Y | No |
ClinGen gnomAD |
|
|
CA864976 rs375324336 |
154 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA340436775 rs1386497910 |
155 | L>V | No |
ClinGen TOPMed |
|
|
CA340436852 rs1458599455 |
158 | I>M | No |
ClinGen gnomAD |
|
|
rs1282628160 CA340436892 |
160 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs774383463 CA864977 |
160 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA864980 rs771926988 |
161 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA864979 rs771926988 |
161 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs201357587 CA864981 |
162 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA864982 rs766675748 |
162 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340436987 rs1222328936 |
164 | W>C | No |
ClinGen TOPMed |
|
|
rs776544889 CA864983 |
165 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1172538342 CA340437002 |
165 | Q>H | No |
ClinGen gnomAD |
|
|
rs548228179 CA22692555 |
166 | T>S | No |
ClinGen 1000Genomes |
|
|
rs1360289263 CA340437098 |
172 | K>R | No |
ClinGen TOPMed |
|
|
CA864986 rs759618256 |
173 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs765321475 CA864987 |
174 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA340437133 rs1386813968 |
175 | T>S | No |
ClinGen gnomAD |
|
|
rs1328982586 CA340437151 |
176 | Y>S | No |
ClinGen gnomAD |
|
|
rs763437881 CA340437217 |
177 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA865008 rs764632084 |
178 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA22692651 rs980561447 |
178 | P>T | No |
ClinGen Ensembl |
|
|
CA865011 rs767788408 |
179 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762190717 CA865010 |
179 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs955170364 CA340437255 |
180 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1488113793 CA340437265 |
181 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA865012 rs753464818 |
181 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA865013 rs754745506 |
182 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340437312 rs1480468062 |
185 | I>V | No |
ClinGen TOPMed |
|
|
rs752309021 CA865015 |
189 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22692740 rs896390230 |
194 | K>R | No |
ClinGen Ensembl |
|
|
rs758380442 CA340437474 |
195 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs758380442 CA865016 |
195 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA865017 rs556138314 |
196 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1321180211 CA340437524 |
197 | S>C | No |
ClinGen TOPMed |
|
|
CA340437589 rs1397372865 |
201 | R>G | No |
ClinGen gnomAD |
|
|
rs746940280 CA865018 CA865019 |
201 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22692775 rs199615607 |
202 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA865021 rs199615607 |
202 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770059090 CA865022 |
203 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs775524972 CA865023 |
204 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA340437655 rs1229265161 |
205 | Q>* | No |
ClinGen gnomAD |
|
|
rs1312583159 CA340437666 |
205 | Q>H | No |
ClinGen gnomAD |
|
|
CA865024 rs763059387 |
208 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374255167 CA865026 |
209 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA865027 rs368972450 |
215 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA865028 rs767919330 |
215 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340438563 rs1260133123 |
216 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1237509891 CA340438572 |
217 | S>A | No |
ClinGen gnomAD |
|
| rs751691987 | 220 | L>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM232814 CA865053 rs775221495 |
223 | R>C | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA340438646 rs775221495 |
223 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA865054 rs762696753 |
223 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340438651 rs762696753 |
223 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762696753 CA340438649 |
223 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340438674 rs1374107022 |
225 | S>F | No |
ClinGen gnomAD |
|
|
rs1411892699 CA340438678 |
226 | G>R | No |
ClinGen TOPMed |
|
|
CA22696974 rs927974617 |
226 | G>V | No |
ClinGen Ensembl |
|
|
rs763651710 CA340438708 |
228 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs763651710 CA865055 |
228 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA865057 rs538909595 |
229 | R>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs552354591 CA865058 |
229 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340438724 rs1332571031 |
230 | L>Q | No |
ClinGen gnomAD |
|
|
CA865060 rs755853293 |
231 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA865059 rs568920280 |
231 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs538038047 CA865061 |
232 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed |
|
| TCGA novel | 234 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA865062 rs749509782 |
235 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA340438766 rs1368563251 |
237 | P>S | No |
ClinGen gnomAD |
|
|
CA22697019 rs375651262 |
239 | I>V | No |
ClinGen gnomAD |
|
|
CA865064 rs200481103 |
240 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs370189677 CA22697039 |
242 | R>T | No |
ClinGen ESP |
|
|
rs1257311089 CA340438799 |
243 | E>K | No |
ClinGen gnomAD |
|
|
CA340438812 rs1484489821 |
244 | E>V | No |
ClinGen TOPMed |
|
|
CA865067 rs772228962 |
246 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA340438829 rs1254983312 |
247 | A>T | No |
ClinGen TOPMed |
|
|
CA340438834 rs1246851315 |
247 | A>V | No |
ClinGen gnomAD |
|
|
CA865068 rs140065383 |
248 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA865069 rs140065383 |
248 | T>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA865070 rs771350664 |
249 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs762650782 CA865072 |
255 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs773879342 CA865074 |
256 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs761188343 CA22697083 |
257 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1318931332 CA340439002 |
257 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA865076 rs767076360 |
258 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA865077 rs200024104 |
259 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA865078 rs756111032 |
261 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151008980 CA865079 |
262 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs753684039 CA865080 |
263 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs577122434 CA865082 |
264 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA340439142 rs1337363417 |
266 | H>R | No |
ClinGen gnomAD |
|
|
CA865083 rs752990649 |
267 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA865084 rs758355760 |
269 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA340439280 rs1236112186 |
274 | K>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 277 | T>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA22697160 rs898988861 |
277 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA340439311 rs1490028434 |
277 | T>P | No |
ClinGen gnomAD |
|
| TCGA novel | 278 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1370659052 CA340439628 |
278 | G>V | No |
ClinGen TOPMed |
|
|
CA865105 rs140904219 |
281 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1191164267 CA340439667 |
281 | E>K | No |
ClinGen TOPMed |
|
|
COSM361089 rs1046110349 CA22698544 |
283 | Y>C | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA22698545 rs959281511 |
284 | P>L | No |
ClinGen Ensembl |
|
|
CA340439716 rs1376925487 |
285 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs757807185 CA865106 |
286 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA340439728 rs757807185 |
286 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 286 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs147830832 CA865108 |
287 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA865109 rs549747478 |
288 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA865111 rs780535700 |
289 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs772680388 CA865115 |
291 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1222888917 CA340439774 |
292 | Y>H | No |
ClinGen TOPMed |
|
|
rs200041624 CA865117 |
293 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs760140836 CA865116 |
293 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758903373 CA340439807 |
294 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22698598 rs939683941 |
295 | D>H | No |
ClinGen Ensembl |
|
|
rs566358489 CA865120 |
296 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752592027 CA865121 |
297 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1400982309 CA340439855 |
297 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA865122 rs763243378 |
300 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146947397 CA865124 |
300 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340439923 rs1378658873 |
301 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA865125 rs757361373 |
302 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA865126 rs778184863 |
303 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340439946 rs1425650834 |
303 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs868146960 CA22698615 |
306 | P>L | No |
ClinGen Ensembl |
|
|
rs201548603 CA865129 |
310 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA865128 rs149457371 |
310 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374733630 CA22698641 |
311 | A>S | No |
ClinGen ESP gnomAD |
|
|
CA22698639 rs374733630 |
311 | A>T | No |
ClinGen ESP gnomAD |
|
|
CA340440025 rs1200338673 |
312 | K>E | No |
ClinGen gnomAD |
|
|
CA22698654 rs751951328 |
312 | K>N | No |
ClinGen Ensembl |
|
|
CA865130 rs749703731 |
312 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA865131 rs749703731 |
312 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200125721 CA865134 CA865135 |
313 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1268396984 CA340440063 |
314 | I>F | No |
ClinGen TOPMed |
|
| TCGA novel | 315 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199932160 CA340440087 |
315 | L>P | No |
ClinGen TOPMed |
|
|
rs1453093778 CA340440094 |
316 | F>L | No |
ClinGen TOPMed |
|
|
rs776275466 CA865137 |
321 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs2275408 VAR_025269 CA865138 |
322 | L>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA340440236 rs1570148941 |
325 | A>G | No |
ClinGen Ensembl |
|
|
rs146317865 CA865140 |
326 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA865139 COSM1215495 rs146160180 |
326 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 327 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1302093781 CA340440261 |
327 | L>P | No |
ClinGen gnomAD |
|
|
rs369314865 CA865141 CA22698672 |
330 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1258149931 CA340441682 |
331 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA340441702 rs1445223121 |
332 | D>G | No |
ClinGen gnomAD |
|
|
CA865159 rs775447739 |
334 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA865160 rs149980693 |
334 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144251283 CA865161 |
336 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774354565 CA865162 |
337 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs765483797 CA22701233 |
339 | P>L | No |
ClinGen Ensembl |
|
|
rs762106293 CA865163 |
339 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA340441834 rs184402036 |
340 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA865165 COSM910857 rs184402036 |
340 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs760761405 CA865166 |
341 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA340441863 rs1157672838 |
342 | V>M | No |
ClinGen TOPMed |
|
|
rs542529022 CA22701279 |
343 | Q>* | No |
ClinGen Ensembl |
|
|
CA865170 rs147853646 |
345 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369065705 COSM191756 CA865169 |
345 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM175202 rs753105572 CA865171 |
347 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs145269794 CA865174 |
350 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1212016201 CA340442005 |
350 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA340442039 rs1486881285 |
353 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 356 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779434744 CA865176 |
357 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1570152430 CA340442114 |
357 | F>L | No |
ClinGen Ensembl |
|
|
rs1282379836 CA340442119 |
358 | Q>E | No |
ClinGen TOPMed |
|
|
rs1570152439 CA340442127 |
358 | Q>R | No |
ClinGen Ensembl |
|
|
CA865177 rs150955584 |
359 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 363 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340442218 rs1440958398 |
364 | L>V | No |
ClinGen gnomAD |
|
|
rs13571 CA865182 |
366 | C>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA22701444 rs962954550 |
366 | C>R | No |
ClinGen TOPMed |
|
|
rs13571 CA865181 VAR_025270 |
366 | C>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA865184 rs760815521 |
368 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA22701502 rs886329373 |
370 | V>G | No |
ClinGen gnomAD |
|
|
CA865186 rs776754665 |
370 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA340442333 rs1416356897 |
371 | K>* | No |
ClinGen TOPMed |
|
|
CA865188 rs765769890 |
371 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs749458749 CA865187 |
371 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA865189 rs753230630 |
375 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs187763654 CA865190 |
378 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs764377869 CA865191 |
379 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs750023821 CA340442486 |
380 | Q>* | No |
ClinGen ExAC TOPMed |
|
|
CA865193 rs750023821 |
380 | Q>E | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 382 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 384 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA865195 rs779697949 |
385 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753438955 CA340442584 |
386 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753438955 CA865196 |
386 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754567542 CA865197 |
387 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340442637 rs1192517973 |
389 | L>F | No |
ClinGen gnomAD |
|
|
CA340442674 rs1429591397 |
392 | I>F | No |
ClinGen gnomAD |
|
|
rs974460084 CA22701565 |
395 | R>T | No |
ClinGen Ensembl |
|
|
rs1480947948 CA340442752 |
396 | V>A | No |
ClinGen gnomAD |
|
|
rs1215636201 CA340442767 |
397 | V>A | No |
ClinGen gnomAD |
|
|
rs1476364675 CA340442762 |
397 | V>F | No |
ClinGen TOPMed |
|
|
rs1408939937 CA340443758 |
400 | P>T | No |
ClinGen TOPMed |
|
|
CA22703572 rs898724796 |
403 | P>L | No |
ClinGen gnomAD |
|
|
CA865226 rs746101291 |
403 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA865227 rs769797412 |
405 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA340443818 rs1194396336 |
409 | E>D | No |
ClinGen gnomAD |
|
|
rs749789100 CA865229 |
409 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1462022084 CA340443824 |
410 | T>I | No |
ClinGen gnomAD |
|
|
CA340443887 rs1185499506 |
416 | A>P | No |
ClinGen gnomAD |
|
|
CA340443889 rs1185499506 |
416 | A>S | No |
ClinGen gnomAD |
|
|
rs1413334760 CA340443915 |
418 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 419 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762036316 CA340443940 |
420 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA865232 rs762036316 |
420 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22703605 rs958097492 |
420 | H>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 421 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA865233 rs768008636 |
421 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA22703609 rs1020923975 |
422 | A>S | No |
ClinGen TOPMed |
|
|
rs1317445147 CA340443960 |
423 | A>T | No |
ClinGen gnomAD |
|
|
CA865236 rs759331730 |
424 | A>L | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9BZE1
No regional properties for Q9BZE1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9BZE1 | |||
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 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). |
| mitochondrial ribosome | A ribosome found in the mitochondrion of a eukaryotic cell; contains a characteristic set of proteins distinct from those of cytosolic ribosomes. |
| 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. |
2 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. |
| 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. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MALASGPARR | ALAGSGQLGL | GGFGAPRRGA | YEWGVRSTRK | SEPPPLDRVY | EIPGLEPITF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AGKMHFVPWL | ARPIFPPWDR | GYKDPRFYRS | PPLHEHPLYK | DQACYIFHHR | CRLLEGVKQA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LWLTKTKLIE | GLPEKVLSLV | DDPRNHIENQ | DECVLNVISH | ARLWQTTEEI | PKRETYCPVI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VDNLIQLCKS | QILKHPSLAR | RICVQNSTFS | ATWNRESLLL | QVRGSGGARL | STKDPLPTIA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SREEIEATKN | HVLETFYPIS | PIIDLHECNI | YDVKNDTGFQ | EGYPYPYPHT | LYLLDKANLR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PHRLQPDQLR | AKMILFAFGS | ALAQARLLYG | NDAKVLEQPV | VVQSVGTDGR | VFHFLVFQLN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TTDLDCNEGV | KNLAWVDSDQ | LLYQHFWCLP | VIKKRVVVEP | VGPVGFKPET | FRKFLALYLH |
| GAA |