Q6P1Q9
Gene name |
METTL2B |
Protein name |
tRNA N(3)-methylcytidine methyltransferase METTL2B |
Names |
Methyltransferase-like protein 2B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55798 |
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
1 structures for Q6P1Q9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6P1Q9-F1 | Predicted | AlphaFoldDB |
328 variants for Q6P1Q9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs754003835 CA4471381 |
2 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754003835 CA369165911 |
2 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755214059 CA4471382 |
3 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4471383 rs755214059 |
3 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755214059 CA369165923 |
3 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1293788812 CA369165947 |
3 | G>V | No |
ClinGen TOPMed |
|
|
CA369165998 rs1310043389 |
5 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 6 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144880655 CA4471385 |
6 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4471386 rs199977243 |
7 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4471387 rs747552289 |
9 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs747552289 CA4471388 |
9 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs550317475 CA4471391 |
10 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1394754844 CA369166144 |
11 | A>T | No |
ClinGen gnomAD |
|
|
CA369166163 rs1412966256 |
11 | A>V | No |
ClinGen gnomAD |
|
|
rs996729949 CA166137651 |
12 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA166137640 rs751924382 |
12 | I>V | No |
ClinGen Ensembl |
|
|
CA369166274 rs888039767 |
15 | D>A | No |
ClinGen TOPMed |
|
|
rs888039767 CA166137672 |
15 | D>G | No |
ClinGen TOPMed |
|
|
rs760621027 CA4471396 |
15 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA4471397 rs766150434 |
16 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA369166368 rs1442153563 |
17 | R>W | No |
ClinGen gnomAD |
|
|
CA4471399 rs368817993 |
18 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4471401 rs765429745 |
19 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369166468 rs1368465293 |
20 | F>S | No |
ClinGen TOPMed |
|
|
rs1315756716 CA369166483 |
21 | G>E | No |
ClinGen gnomAD |
|
|
rs752988826 CA4471402 |
21 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA369166533 rs1421788567 |
23 | R>Q | No |
ClinGen gnomAD |
|
|
rs143388299 CA4471404 |
25 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4471405 rs764272437 |
25 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1208379883 CA369166610 |
26 | S>N | No |
ClinGen TOPMed |
|
|
CA4471406 rs752051606 |
26 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369166597 rs1246366047 |
26 | S>R | No |
ClinGen TOPMed |
|
|
rs1244765041 CA369166635 |
27 | D>H | No |
ClinGen gnomAD |
|
|
CA4471408 rs781683949 |
28 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4471409 rs746258006 |
29 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4471410 rs754635858 |
29 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs969939104 CA166137818 |
30 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4471411 rs778379366 |
30 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA369166763 rs969939104 |
30 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA369166880 rs1325655959 |
34 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4471414 rs772768554 |
36 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369166940 rs771514640 |
36 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4471413 rs771514640 |
36 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4471415 rs772768554 |
36 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4471416 rs770895217 |
37 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1409074735 CA369167137 |
38 | D>G | No |
ClinGen TOPMed |
|
|
CA4471438 rs763259775 |
38 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs764446464 CA369167151 |
39 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764446464 CA4471439 |
39 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369167182 rs1467841190 |
40 | V>M | No |
ClinGen gnomAD |
|
|
rs201840388 CA166138109 |
41 | E>Q | No |
ClinGen 1000Genomes |
|
|
CA369167238 rs1584787303 |
42 | W>G | No |
ClinGen Ensembl |
|
|
rs747240198 CA4471441 |
42 | W>V | No |
ClinGen ExAC |
|
|
rs1409602134 CA369167312 |
43 | S>L | No |
ClinGen TOPMed |
|
|
rs1483559110 CA369167404 |
46 | Q>E | No |
ClinGen TOPMed |
|
|
CA4471443 rs774550663 |
47 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA369167508 rs1168918849 |
48 | A>V | No |
ClinGen gnomAD |
|
|
CA4471444 rs761934718 |
50 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA369167598 rs1244045658 |
52 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1427441452 CA369167616 |
52 | R>S | No |
ClinGen gnomAD |
|
|
CA166138157 rs542693830 |
53 | K>R | No |
ClinGen 1000Genomes |
|
|
rs1175079536 CA369167652 |
55 | Q>* | No |
ClinGen gnomAD |
|
|
rs767735930 CA4471445 |
55 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4471446 rs750826327 |
56 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA369167688 rs750826327 |
56 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs761304206 CA4471447 |
58 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1563025675 CA369167831 |
59 | I>N | No |
ClinGen Ensembl |
|
|
CA369167908 rs1339747271 |
61 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1269384472 CA369167885 |
61 | R>W | No |
ClinGen gnomAD |
|
|
CA4471449 rs754270290 |
62 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282784635 CA369168010 |
64 | Q>P | No |
ClinGen gnomAD |
|
|
rs758023816 CA4471450 |
65 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs777360306 CA4471451 |
66 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1449236159 CA369168118 |
67 | Q>* | No |
ClinGen gnomAD |
|
|
VAR_059465 CA4471452 rs2288557 |
68 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4471453 rs2288557 |
68 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA369169759 rs1307505150 |
69 | D>V | No |
ClinGen gnomAD |
|
|
CA4471480 rs772380517 |
70 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369169867 rs1584788301 |
71 | E>Q | No |
ClinGen Ensembl |
|
|
CA4471481 rs773144378 |
72 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA4471482 rs558538474 |
73 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4471483 rs770950888 |
74 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA369170064 rs1264450413 |
77 | Y>C | No |
ClinGen TOPMed |
|
|
CA4471485 rs760052603 |
78 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1480755207 CA369170137 |
80 | D>N | No |
ClinGen gnomAD |
|
|
rs1480755207 CA369170139 |
80 | D>Y | No |
ClinGen gnomAD |
|
|
rs1203919311 CA369170168 |
81 | F>C | No |
ClinGen gnomAD |
|
|
CA4471486 rs577815271 |
82 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4471488 rs761337639 |
84 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4471489 rs761337639 |
84 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775896759 CA4471487 |
84 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750061884 CA4471490 |
85 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750061884 CA369170278 |
85 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4471492 rs765990831 |
86 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs545309739 CA4471493 |
88 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4471494 rs755022379 |
90 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778821569 CA4471495 |
91 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA4471496 rs748007739 |
92 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 92 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 92 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758149529 CA4471497 |
93 | R>G | No |
ClinGen ExAC |
|
|
rs1452036402 CA369170739 |
94 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 94 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747204364 CA4471499 |
95 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA4471498 rs778016179 |
95 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA166139340 rs909946449 |
96 | L>F | No |
ClinGen TOPMed |
|
|
rs1159707216 CA369170826 |
97 | F>L | No |
ClinGen TOPMed |
|
|
CA4471502 rs776752874 |
99 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4471501 rs776752874 |
99 | E>K | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1227251220 CA369170984 |
100 | F>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 101 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770322966 CA4471503 |
101 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs370934585 CA4471506 |
104 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4471507 rs772854007 |
105 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760256690 CA4471508 |
106 | S>G | No |
ClinGen ExAC |
|
|
rs372947759 CA166139444 |
107 | Q>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA166139451 rs765973988 |
107 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1448606188 CA369171424 |
109 | Q>P | No |
ClinGen gnomAD |
|
|
rs1563026260 CA369171447 |
110 | N>T | No |
ClinGen Ensembl |
|
|
CA369171488 rs1218532117 |
111 | H>N | No |
ClinGen TOPMed |
|
|
rs754946655 CA4471511 |
112 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147091233 CA4471513 |
115 | W>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1465000373 CA369171637 |
116 | F>L | No |
ClinGen gnomAD |
|
|
CA369171650 rs1291101702 |
116 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4471514 rs758149729 |
117 | L>S | No |
ClinGen ExAC gnomAD |
|
|
COSM345898 rs777446288 CA4471515 |
118 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA369171702 rs1563026281 |
119 | N>Y | No |
ClinGen Ensembl |
|
|
CA369171779 rs1295847185 |
121 | S>N | No |
ClinGen gnomAD |
|
|
CA4471516 rs2896399 COSM1131716 VAR_042547 |
124 | C>R | prostate [Cosmic] | No |
ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1053120 CA4471517 COSM3662914 |
124 | C>S | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4471518 rs781215137 |
126 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1217904465 CA369172099 |
128 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs2023329 CA369172103 |
129 | N>D | No |
ClinGen gnomAD |
|
|
rs2023329 VAR_042548 CA166139564 |
129 | N>H | No |
ClinGen UniProt dbSNP gnomAD |
|
| TCGA novel | 130 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4471520 rs769881145 |
133 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA369172279 rs1206659231 |
133 | P>S | No |
ClinGen gnomAD |
|
|
CA4471522 rs749762340 |
134 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA369172302 rs749762340 |
134 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 134 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369172341 rs1424585878 |
135 | L>F | No |
ClinGen gnomAD |
|
|
rs138655370 CA4471523 |
136 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4471524 rs774634239 |
136 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1317297850 CA369172548 |
141 | H>Y | No |
ClinGen TOPMed |
|
|
CA4471525 rs542722736 |
142 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs138363960 CA4471527 |
143 | C>Y | No |
ClinGen ESP ExAC TOPMed |
|
|
COSM1085244 rs199814237 CA4471528 |
145 | S>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs370330757 CA4471533 |
149 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA369172908 rs1365015595 |
150 | H>D | No |
ClinGen gnomAD |
|
|
CA4471534 rs757446547 |
150 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA369172909 rs1365015595 |
150 | H>Y | No |
ClinGen gnomAD |
|
|
CA369172994 rs1242070922 |
152 | T>A | No |
ClinGen TOPMed |
|
|
rs781338814 CA4471535 |
152 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4471536 rs750671733 |
153 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA4471537 rs750671733 |
153 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs780011703 CA4471538 |
153 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA369173016 rs1223636203 |
153 | Q>R | No |
ClinGen TOPMed |
|
|
rs71376910 CA166139747 |
155 | P>L | No |
ClinGen Ensembl |
|
|
rs543399916 CA4471542 |
159 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs531322856 CA4471541 |
159 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200760710 CA4471543 |
162 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369173278 rs200760710 |
162 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369173283 rs1184525986 |
163 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs759278722 CA4471545 COSM1447893 |
166 | S>G | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1212891370 CA369173388 |
167 | D>G | No |
ClinGen TOPMed |
|
|
rs1065267 CA4471546 VAR_042549 |
169 | E>K | No |
ClinGen UniProt 1000Genomes TOPMed dbSNP gnomAD |
|
|
rs1269551545 CA369173522 |
174 | E>* | No |
ClinGen TOPMed |
|
|
CA4471548 rs374382100 |
174 | E>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376032047 CA4471549 |
176 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376032047 CA4471550 |
176 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs937655357 CA166139773 |
176 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1443838938 CA369173581 |
177 | G>R | No |
ClinGen gnomAD |
|
|
rs1349278312 CA369173640 COSM1312658 |
179 | S>L | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1226525990 CA369173659 |
180 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 182 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4471552 rs564898982 |
183 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs564898982 CA4471553 |
183 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767300402 CA4471554 |
183 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1054909731 CA166139788 |
186 | E>A | No |
ClinGen TOPMed |
|
|
rs1171845417 CA369173758 |
186 | E>Q | No |
ClinGen TOPMed |
|
|
CA4471568 rs748694427 |
187 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374470199 CA4471569 |
189 | C>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1203188545 CA369173887 |
190 | G>C | No |
ClinGen gnomAD |
|
|
CA4471571 rs761751374 |
191 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs368420732 CA4471570 |
191 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs570735134 CA4471574 |
193 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA369173926 rs570735134 |
193 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1451758127 CA369173939 |
194 | T>A | No |
ClinGen gnomAD |
|
|
rs1346963830 CA369173944 |
194 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 195 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1238049186 CA369173974 |
196 | F>L | No |
ClinGen gnomAD |
|
|
CA166140312 rs933745096 |
198 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs535064523 CA4471575 |
198 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4471576 rs766464173 |
201 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 202 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs547363955 CA4471579 |
203 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1390822237 CA369176283 |
204 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1173833068 CA369176314 |
206 | G>A | No |
ClinGen gnomAD |
|
|
rs1319658735 CA369176318 |
207 | L>V | No |
ClinGen gnomAD |
|
|
CA369176557 rs1383720205 |
213 | D>G | No |
ClinGen TOPMed |
|
|
CA369176829 rs1331872957 |
221 | L>V | No |
ClinGen gnomAD |
|
|
CA4471600 rs143926368 |
222 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4471601 rs143926368 |
222 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4471599 rs752867018 |
222 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs532613589 CA4471640 |
228 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4471641 rs184377510 |
229 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA369179033 rs1296412142 |
229 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 231 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4471642 rs201069711 |
232 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4471643 rs201069711 |
232 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1003182800 CA166145844 |
232 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs140437785 COSM110182 CA166145859 |
233 | C>G | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1275149315 CA369179190 |
234 | F>L | No |
ClinGen gnomAD |
|
|
rs1230094773 CA369179177 |
234 | F>S | No |
ClinGen gnomAD |
|
|
rs150648939 CA4471645 |
239 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1240633988 CA369179444 |
241 | C>F | No |
ClinGen gnomAD |
|
|
rs991406855 CA166145877 |
244 | E>* | No |
ClinGen TOPMed |
|
|
rs1247592921 CA369179537 |
245 | K>E | No |
ClinGen TOPMed |
|
|
rs756743733 CA4471647 |
246 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4471650 rs755911877 |
247 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs745794267 CA4471649 |
247 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA4471654 rs139684664 |
252 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769038355 CA4471653 |
252 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA4471655 rs748209056 |
253 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1343043459 CA369179872 |
256 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA369179934 rs1288961374 |
259 | L>V | No |
ClinGen gnomAD |
|
|
rs924164768 CA166145933 |
260 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs773711845 CA4471657 |
261 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 263 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 263 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761229854 CA4471658 |
264 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291674579 CA369180055 |
265 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4471659 VAR_042550 rs2562741 |
266 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4471661 rs762574753 |
268 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs751206752 CA4471663 |
269 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs763756064 CA4471662 |
269 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1268307356 CA369180154 |
269 | D>N | No |
ClinGen gnomAD |
|
|
rs756723202 CA4471664 |
270 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4471688 rs753857299 |
271 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA4471690 rs778630920 |
273 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752960141 CA4471691 |
274 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs752960141 CA4471692 |
274 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs369463525 CA166147397 |
275 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs372796185 CA4471693 |
276 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369182109 rs1230818152 |
276 | N>S | No |
ClinGen gnomAD |
|
|
CA369182172 rs1338785540 |
279 | S>N | No |
ClinGen gnomAD |
|
|
rs1398708341 CA369182188 |
280 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs771033957 CA4471695 |
282 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4471696 rs202185157 |
283 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369182296 rs1563031122 |
284 | P>L | No |
ClinGen Ensembl |
|
|
CA4471699 rs551970224 |
285 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4471698 rs746392126 |
285 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs376427235 CA4471701 |
286 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 287 | M>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4471703 rs773019533 |
288 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs760221605 CA4471704 |
290 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs567098989 CA4471705 |
291 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs375503082 CA166147458 |
291 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA369182476 rs1584797276 |
293 | Y>S | No |
ClinGen Ensembl |
|
|
CA4471707 rs759459489 |
294 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs549497239 CA4471708 |
295 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376529256 CA166147483 |
295 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4471709 rs376529256 |
295 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA369182522 rs376529256 |
295 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369182546 rs1346339708 |
296 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1223380353 CA369182560 |
297 | D>N | No |
ClinGen gnomAD |
|
|
CA4471711 rs758237793 |
300 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs73232665 CA4471715 |
302 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs73232665 CA4471714 |
302 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4471713 rs148691648 |
302 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 306 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369184167 rs1229469212 |
306 | G>V | No |
ClinGen gnomAD |
|
|
CA4471731 rs372175253 |
307 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1348116657 CA369184206 |
308 | C>W | No |
ClinGen gnomAD |
|
| TCGA novel | 309 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767549823 CA4471734 |
314 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139332186 CA4471737 |
315 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139332186 CA4471736 |
315 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 316 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369184344 rs1180835599 |
317 | G>R | No |
ClinGen gnomAD |
|
|
rs1451933725 CA369184437 |
322 | V>I | No |
ClinGen gnomAD |
|
|
CA4471741 rs746630236 |
323 | Y>H | No |
ClinGen ExAC |
|
|
CA369184499 rs1168686158 |
325 | F>S | No |
ClinGen TOPMed |
|
|
rs1366401568 CA369184523 |
326 | T>S | No |
ClinGen gnomAD |
|
|
rs1301369783 CA369184564 |
328 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs768625890 CA4471765 |
330 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA4471767 rs144033501 |
332 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372160652 CA4471769 |
333 | L>F | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1242244191 CA369184780 |
335 | T>P | No |
ClinGen gnomAD |
|
|
rs761016035 CA4471771 |
340 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs766337756 CA4471772 |
342 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA369184882 rs759709919 |
343 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs759709919 CA4471774 |
343 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA369184895 rs1053124 |
344 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758775623 CA4471777 |
348 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA4471778 rs376554951 |
348 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1381225752 CA369184921 |
349 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs750035208 CA4471779 |
349 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4471780 rs755834988 |
350 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369184925 rs1223991931 |
350 | L>Q | No |
ClinGen gnomAD |
|
|
rs748750939 CA4471782 |
351 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768188038 CA4471783 |
353 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1584799076 CA369184943 |
353 | N>T | No |
ClinGen Ensembl |
|
|
rs748092719 CA4471785 |
354 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748092719 CA369184948 |
354 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4471786 rs369496166 |
354 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369184971 rs1163244735 |
357 | Q>H | No |
ClinGen TOPMed |
|
|
rs1435452905 CA369184977 |
358 | L>P | No |
ClinGen gnomAD |
|
|
CA369184991 rs1429353047 |
360 | M>I | No |
ClinGen TOPMed |
|
|
CA4471787 rs773126594 |
360 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs760785211 CA4471788 |
361 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149666702 CA4471790 |
362 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4471789 rs771135202 |
362 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA369185002 rs759620083 |
363 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759620083 CA4471791 |
363 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369185012 rs1222915539 |
364 | W>C | No |
ClinGen TOPMed |
|
|
CA4471792 rs765418575 |
364 | W>R | No |
ClinGen ExAC |
|
|
CA4471793 rs753239204 |
366 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369185031 rs1452533494 |
367 | C>R | No |
ClinGen gnomAD |
|
|
CA4471794 rs373453923 |
367 | C>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369185032 rs1286634711 |
367 | C>Y | No |
ClinGen gnomAD |
|
|
CA369185047 rs1584799110 |
369 | Y>S | No |
ClinGen Ensembl |
|
|
CA369185053 rs1221197189 |
370 | C>R | No |
ClinGen TOPMed |
|
|
CA4471796 rs752008206 |
372 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA4471799 rs753496451 |
375 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA4471800 rs754429158 |
376 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1317764509 CA369185106 |
378 | S>T | No |
ClinGen gnomAD |
No associated diseases with Q6P1Q9
No regional properties for Q6P1Q9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q6P1Q9 | |||
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| tRNA (cytosine) methyltransferase activity | Catalysis of the reaction: S-adenosyl-L-methionine + tRNA = S-adenosyl-L-homocysteine + tRNA containing methylcytosine. |
| tRNA (cytosine-3-)-methyltransferase activity | Catalysis of the reaction: S-adenosyl-L-methionine + tRNA = S-adenosyl-L-homocysteine + tRNA containing 3-methylcytosine. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| tRNA methylation | The posttranscriptional addition of methyl groups to specific residues in a tRNA molecule. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q86BS6 | metl | Methyltransferase-like protein | Drosophila melanogaster (Fruit fly) | PR |
| Q9H825 | METTL8 | tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial | Homo sapiens (Human) | PR |
| Q96IZ6 | METTL2A | tRNA N(3)-methylcytidine methyltransferase METTL2A | Homo sapiens (Human) | PR |
| Q8BMK1 | Mettl2 | tRNA N(3)-methylcytidine methyltransferase METTL2 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAGSYPEGAP | AILADKRQQF | GSRFLSDPAR | VFHHNAWDNV | EWSEEQAAAA | ERKVQENSIQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RVCQEKQVDY | EINAHKYWND | FYKIHENGFF | KDRHWLFTEF | PELAPSQNQN | HLKDWFLENK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SEVCECRNNE | DGPGLIMEEQ | HKCSSKSLEH | KTQTPPVEEN | VTQKISDLEI | CADEFPGSSA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TYRILEVGCG | VGNTVFPILQ | TNNDPGLFVY | CCDFSSTAIE | LVQTNSEYDP | SRCFAFVHDL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| CDEEKSYPVP | KGSLDIIILI | FVLSAVVPDK | MQKAINRLSR | LLKPGGMVLL | RDYGRYDMAQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LRFKKGQCLS | GNFYVRGDGT | RVYFFTQEEL | DTLFTTAGLE | KVQNLVDRRL | QVNRGKQLTM |
| 370 | |||||
| YRVWIQCKYC | KPLLSSTS |