Q9H825
Gene name |
METTL8 |
Protein name |
tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial |
Names |
Methyltransferase-like protein 8, mRNA N(3)-methylcytidine methyltransferase METTL8 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79828 |
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 Q9H825
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9H825-F1 | Predicted | AlphaFoldDB |
239 variants for Q9H825
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA349582778 rs1244685269 |
2 | N>S | No |
ClinGen TOPMed |
|
|
rs1274214311 CA349582705 |
3 | M>I | No |
ClinGen TOPMed |
|
|
rs993961314 CA60778446 |
4 | I>V | No |
ClinGen TOPMed |
|
|
rs555507350 CA1964508 |
9 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1433660509 CA349582512 |
10 | S>P | No |
ClinGen gnomAD |
|
|
rs1179070244 CA349582500 |
10 | S>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 11 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1291663453 CA349582484 |
11 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA349582426 rs1421996953 |
14 | L>P | No |
ClinGen TOPMed |
|
|
CA349582361 rs1237532851 |
16 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1476035883 CA349582347 |
17 | V>E | No |
ClinGen TOPMed |
|
|
rs1458969977 CA349582315 |
19 | H>N | No |
ClinGen gnomAD |
|
|
CA349582288 rs1258472192 |
20 | R>G | No |
ClinGen gnomAD |
|
|
rs536965356 CA60778406 |
21 | Y>C | No |
ClinGen 1000Genomes |
|
|
rs1344610770 CA349582247 |
22 | Q>* | No |
ClinGen gnomAD |
|
|
rs1273114673 CA349582230 |
22 | Q>R | No |
ClinGen gnomAD |
|
|
rs569917058 CA1964507 |
23 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1372341203 CA349582122 |
24 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA349582057 rs1445016838 |
26 | H>P | No |
ClinGen gnomAD |
|
|
CA349582053 rs1445016838 |
26 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 29 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1413502482 CA349581922 |
32 | G>E | No |
ClinGen gnomAD |
|
|
CA60778382 rs866639518 |
33 | S>* | No |
ClinGen Ensembl |
|
|
CA1964505 rs763792693 |
35 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1357785882 CA349581773 |
39 | P>S | No |
ClinGen TOPMed |
|
|
CA349581758 rs1454373002 |
40 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1454373002 CA349581753 |
40 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1176628186 CA349581728 |
42 | V>A | No |
ClinGen gnomAD |
|
|
CA349581735 rs1559162913 |
42 | V>F | No |
ClinGen Ensembl |
|
| TCGA novel | 43 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349581636 rs1574105160 |
46 | N>K | No |
ClinGen Ensembl |
|
|
CA349581644 rs1441481800 |
46 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs758422964 CA1964490 |
48 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs545647826 CA60762594 |
49 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1964489 rs750317615 |
50 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA349598508 rs1329946584 |
51 | M>R | No |
ClinGen TOPMed |
|
|
rs765214248 CA1964488 |
52 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1262500851 CA349598461 CA349598477 |
53 | W>R | No |
ClinGen gnomAD |
|
|
rs756772158 CA1964487 |
54 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1964486 rs753362824 |
55 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs142587727 CA1964485 |
55 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370506078 CA1964484 |
58 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA349598328 rs370506078 |
58 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 60 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144459446 CA60762569 |
61 | A>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs775858124 CA1964482 |
62 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA1964480 rs760042743 |
64 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760042743 CA1964481 |
64 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760042743 CA349598150 |
64 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563180068 CA60762560 COSM1148435 COSM717743 |
64 | K>R | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA1964479 rs553730142 |
65 | V>I | No |
ClinGen 1000Genomes ExAC |
|
|
CA349598074 rs1345704211 |
66 | K>R | No |
ClinGen gnomAD |
|
|
rs1227930562 CA349597986 |
69 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM1009533 rs779685244 CA60762534 COSM1153538 |
72 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs779685244 CA349597937 |
72 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs773311107 CA1964475 |
72 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1964472 rs779998518 |
74 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA1964471 rs772057584 |
78 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA1964449 rs778725277 |
80 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA349593935 rs1439641407 |
82 | E>D | No |
ClinGen gnomAD |
|
|
CA349593874 rs1179347905 |
85 | A>T | No |
ClinGen gnomAD |
|
|
CA1964448 rs770799744 |
85 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs749194619 CA1964447 |
86 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181951289 CA349593813 |
88 | Y>H | No |
ClinGen TOPMed |
|
|
rs1207395792 CA349593767 |
89 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1559068701 CA349593738 |
90 | D>E | No |
ClinGen Ensembl |
|
|
rs1349503807 CA349593755 |
90 | D>N | No |
ClinGen gnomAD |
|
|
CA349593665 rs1239264627 |
95 | I>M | No |
ClinGen gnomAD |
|
|
rs550860135 CA1964445 |
96 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1308840575 CA349593628 |
97 | K>R | No |
ClinGen gnomAD |
|
|
CA349593623 rs1374313559 |
98 | N>D | No |
ClinGen gnomAD |
|
|
CA1964443 rs752192049 |
98 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs949953821 CA60750682 |
99 | K>T | No |
ClinGen TOPMed |
|
|
rs1575756299 CA349593553 |
100 | F>V | No |
ClinGen Ensembl |
|
|
rs1174359216 CA349593420 |
103 | D>A | No |
ClinGen gnomAD |
|
| TCGA novel | 103 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1964441 rs780873428 |
104 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA349593395 rs780873428 |
104 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754629409 CA1964440 |
104 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA60750674 rs780873428 |
104 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349593288 rs1161709867 |
108 | L>V | No |
ClinGen gnomAD |
|
|
rs751900891 CA1964439 |
110 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA1964438 rs766708496 |
110 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA349593123 rs1204988019 |
113 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA60750663 rs962892244 |
113 | E>K | No |
ClinGen gnomAD |
|
|
rs751004894 CA1964436 |
116 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1351387302 CA349593025 |
117 | V>F | No |
ClinGen gnomAD |
|
|
rs765823702 CA1964435 |
117 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 118 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1383081092 CA349592891 |
121 | P>L | No |
ClinGen TOPMed |
|
|
rs1383081092 CA349592893 |
121 | P>R | No |
ClinGen TOPMed |
|
|
CA1964434 rs762030842 |
121 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA349592890 rs1229764801 |
122 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA349592777 rs1320819831 |
124 | K>E | No |
ClinGen gnomAD |
|
|
CA1964433 rs534406035 |
125 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774034063 CA1964430 |
127 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1213088166 CA349592663 |
127 | E>G | No |
ClinGen gnomAD |
|
|
rs951303060 CA60750636 |
130 | W>C | No |
ClinGen Ensembl |
|
|
CA1964429 rs770695920 |
130 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs201147972 CA60750635 |
131 | D>H | No |
ClinGen Ensembl |
|
|
CA60750626 rs917110978 |
133 | V>A | No |
ClinGen TOPMed |
|
|
CA1964427 rs773192845 |
133 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs773192845 CA349592457 |
133 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA60750623 rs1026282136 |
135 | T>I | No |
ClinGen gnomAD |
|
|
rs1201886612 CA349592339 |
136 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs185190720 CA1964425 |
137 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 137 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349592284 rs1475966173 |
138 | T>A | No |
ClinGen gnomAD |
|
|
CA349592270 rs1486697944 |
138 | T>R | No |
ClinGen Ensembl |
|
|
rs1575755601 CA349592266 |
139 | N>D | No |
ClinGen Ensembl |
|
|
CA349592230 rs141169319 |
140 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1964422 rs141169319 |
140 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA349592218 rs1428343681 |
140 | R>H | No |
ClinGen TOPMed |
|
|
rs141169319 CA1964423 |
140 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779567642 CA1964421 |
141 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61731489 CA349592162 |
142 | S>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1964420 rs61731489 |
142 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs41268697 CA1964419 |
143 | R>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs41268697 CA1964418 |
143 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1964417 rs757795211 |
145 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA349591948 rs1437271204 |
147 | P>R | No |
ClinGen Ensembl |
|
|
CA1964416 rs753984709 |
148 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349591926 rs1263411004 |
148 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA349591934 rs1263411004 |
148 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1007622200 CA60750581 |
150 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 151 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 152 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1268086760 | 154 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 155 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1278029561 CA349591579 |
155 | H>Y | No |
ClinGen Ensembl |
|
|
rs1428766029 CA349591549 |
156 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 156 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349591505 rs1214961554 |
158 | K>E | No |
ClinGen TOPMed |
|
|
rs760815681 CA1964414 |
159 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775852144 CA1964413 |
161 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA349591241 rs1559067484 |
163 | S>L | No |
ClinGen Ensembl |
|
|
rs140209595 CA1964410 |
169 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA349590976 rs1383220013 |
171 | S>P | No |
ClinGen gnomAD |
|
|
CA1964409 rs151161397 |
175 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA349590791 rs1324275822 |
175 | N>I | No |
ClinGen gnomAD |
|
|
CA349590789 rs748029510 |
175 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA349590719 rs1394755919 |
177 | D>E | No |
ClinGen gnomAD |
|
|
rs1169431086 CA349590702 |
178 | S>Y | No |
ClinGen gnomAD |
|
|
rs776123567 CA1964407 |
179 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA60750566 rs964351529 |
179 | E>V | No |
ClinGen TOPMed |
|
|
rs1193315067 CA349590637 |
181 | H>N | No |
ClinGen gnomAD |
|
|
rs1265246189 COSM1153537 CA349590621 |
181 | H>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1964406 rs768278807 |
181 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA60750560 rs1017260954 |
182 | K>E | No |
ClinGen TOPMed |
|
|
rs1443117275 CA349590516 |
184 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 184 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349590478 rs546766547 |
185 | P>L | No |
ClinGen 1000Genomes gnomAD |
|
|
CA60750552 rs546766547 |
185 | P>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs987751206 CA60750548 |
186 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA349590437 rs1257197013 |
187 | E>K | No |
ClinGen gnomAD |
|
|
CA60750543 rs999520544 |
188 | T>A | No |
ClinGen Ensembl |
|
|
CA1964404 rs779803133 |
192 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1337723441 CA349590202 |
192 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA349590166 rs1228306320 |
193 | G>D | No |
ClinGen gnomAD |
|
|
rs1175012667 CA349590188 |
193 | G>S | No |
ClinGen gnomAD |
|
|
rs1331018888 CA349590143 |
194 | S>G | No |
ClinGen gnomAD |
|
|
rs757954897 CA1964403 |
195 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA349590047 rs1443753782 |
195 | N>S | No |
ClinGen gnomAD |
|
|
rs746264213 CA1964402 |
197 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779367706 CA1964401 |
199 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1964385 rs528516496 |
203 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1964384 rs528516496 |
203 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA349589441 rs1346261765 |
204 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1346261765 CA349589442 |
204 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA60749755 rs1007415697 |
209 | N>S | No |
ClinGen TOPMed |
|
|
rs1192793258 CA349589244 |
212 | F>I | No |
ClinGen TOPMed |
|
|
rs1429130140 CA349589170 |
214 | I>T | No |
ClinGen TOPMed |
|
|
CA1964380 rs749659566 |
215 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs112280566 CA60749748 |
216 | N>D | No |
ClinGen Ensembl |
|
|
rs1353208198 CA349588998 |
219 | E>G | No |
ClinGen gnomAD |
|
|
CA349585533 rs1345754136 |
220 | N>T | No |
ClinGen gnomAD |
|
| TCGA novel | 221 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1964362 rs367859843 |
222 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1964363 rs774209016 |
222 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349585500 rs774209016 |
222 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770356561 CA1964359 |
223 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA1964360 rs777961817 |
223 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs535397478 CA349585443 |
224 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs535397478 CA1964358 |
224 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375267741 CA1964357 |
226 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA349585335 rs1243249382 |
228 | C>R | No |
ClinGen gnomAD |
|
|
CA1964355 rs751615013 |
229 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA60745613 rs71415241 |
229 | C>W | No |
ClinGen Ensembl |
|
|
CA60745614 rs1005229081 |
229 | C>Y | No |
ClinGen gnomAD |
|
|
CA349585214 rs1559052940 |
231 | F>L | No |
ClinGen Ensembl |
|
|
CA349585194 rs1478904525 |
231 | F>L | No |
ClinGen TOPMed |
|
|
rs1270232746 CA349585035 |
236 | V>M | No |
ClinGen gnomAD |
|
|
CA349584998 rs1362552013 |
237 | E>K | No |
ClinGen gnomAD |
|
|
CA1964350 rs187428286 |
239 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752647081 CA1964349 |
240 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 242 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142842112 CA349584355 |
243 | S>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142842112 CA1964330 |
243 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs768040586 CA349584242 |
246 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
CA60744676 rs768040586 |
246 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA349584221 rs1314850620 |
247 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs754926663 CA1964328 |
248 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1193349670 CA349584141 |
249 | Q>* | No |
ClinGen TOPMed |
|
|
CA349584104 rs1575725285 CA349584116 |
249 | Q>H | No |
ClinGen Ensembl |
|
|
rs1225641226 CA349584034 |
251 | F>V | No |
ClinGen gnomAD |
|
|
rs751138034 CA1964327 |
254 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs148050588 CA1964326 |
255 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1964325 rs762672914 |
256 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA349583874 rs1413070540 |
256 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA1964324 rs772797511 |
257 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA349583803 rs1343756171 |
258 | C>R | No |
ClinGen gnomAD |
|
|
CA60744653 rs1036735514 |
258 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs762122402 CA1964322 |
259 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1381658180 CA349583762 |
259 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 261 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349583494 rs1343376361 |
265 | P>R | No |
ClinGen gnomAD |
|
|
CA1964321 rs141737189 |
267 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1964320 rs769171322 |
267 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs143561498 CA1964318 |
271 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs569087789 CA60744625 |
272 | D>G | No |
ClinGen 1000Genomes |
|
|
CA60744614 rs917952029 |
273 | V>A | No |
ClinGen TOPMed |
|
|
rs1292974606 CA349583212 |
273 | V>I | No |
ClinGen gnomAD |
|
|
CA349583197 rs1226723956 |
274 | I>V | No |
ClinGen TOPMed |
|
|
CA349583077 rs1231688914 |
277 | V>I | No |
ClinGen gnomAD |
|
|
CA1964316 rs745951471 |
278 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1383494548 CA349582999 |
279 | V>G | No |
ClinGen gnomAD |
|
|
CA349583016 rs1382119565 |
279 | V>M | No |
ClinGen gnomAD |
|
|
rs1290979078 CA349582993 |
280 | L>F | No |
ClinGen gnomAD |
|
|
rs866962520 CA1964313 |
282 | S>C | No |
ClinGen TOPMed |
|
|
rs866962520 CA349582881 |
282 | S>Y | No |
ClinGen TOPMed |
|
|
CA1964312 rs757472686 |
283 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1964310 rs781086618 |
286 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs959955896 CA60744559 |
286 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs772127069 CA1964311 |
286 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 286 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1964309 rs551304962 |
287 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA60741614 rs894390674 |
288 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs995469798 CA60741593 |
289 | L>W | No |
ClinGen TOPMed |
|
|
rs779849767 CA1964262 |
291 | I>V | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9H825
1 regional properties for Q9H825
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Methyltransferase domain 25 | 200 - 286 | IPR041698 |
Functions
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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 |
|---|---|
| mRNA methyltransferase activity | Catalysis of the transfer of a methyl group from S-adenosyl-L-methionine to a nucleoside residue in an mRNA molecule. |
| tRNA (cytosine-3-)-methyltransferase activity | Catalysis of the reaction: S-adenosyl-L-methionine + tRNA = S-adenosyl-L-homocysteine + tRNA containing 3-methylcytosine. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| mRNA methylation | The posttranscriptional addition of methyl groups to specific residues in an mRNA molecule. |
| positive regulation of mitochondrial translation | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion. |
| tRNA C3-cytosine methylation | The process whereby a cytosine in a tRNA is methylated at position 3 of the cytosine. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q86BS6 | metl | Methyltransferase-like protein | Drosophila melanogaster (Fruit fly) | PR |
| Q6P1Q9 | METTL2B | tRNA N(3)-methylcytidine methyltransferase METTL2B | 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 |
| MNMIWRNSIS | CLRLGKVPHR | YQSGYHPVAP | LGSRILTDPA | KVFEHNMWDH | MQWSKEEEAA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ARKKVKENSA | VRVLLEEQVK | YEREASKYWD | TFYKIHKNKF | FKDRNWLLRE | FPEILPVDQK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PEEKARESSW | DHVKTSATNR | FSRMHCPTVP | DEKNHYEKSS | GSSEGQSKTE | SDFSNLDSEK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HKKGPMETGL | FPGSNATFRI | LEVGCGAGNS | VFPILNTLEN | SPESFLYCCD | FASGAVELVK |
| 250 | 260 | 270 | 280 | 290 | |
| SHSSYRATQC | FAFVHDVCDD | GLPYPFPDGI | LDVILLVFVL | SSIHPDRTLF | I |