Q9HBK9
Gene name |
AS3MT (CYT19) |
Protein name |
Arsenite methyltransferase |
Names |
Methylarsonite methyltransferase, S-adenosyl-L-methionine:arsenic(III) methyltransferase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57412 |
EC number |
2.1.1.137: Methyltransferases |
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 Q9HBK9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9HBK9-F1 | Predicted | AlphaFoldDB |
267 variants for Q9HBK9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs773603561 CA5669874 |
3 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368195232 CA5669875 |
6 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377941997 rs1216089695 |
9 | I>L | No |
ClinGen gnomAD |
|
|
rs774957352 CA5669878 |
10 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs774957352 CA5669877 |
10 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA377942020 rs1176168625 |
12 | D>G | No |
ClinGen gnomAD |
|
|
CA5669880 rs763634134 |
14 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA377942049 rs1308736476 |
15 | T>A | No |
ClinGen gnomAD |
|
|
CA377942050 rs1308736476 |
15 | T>S | No |
ClinGen gnomAD |
|
|
CA377942076 rs1460423938 |
19 | Q>K | No |
ClinGen TOPMed |
|
|
CA377942084 rs1406708151 |
20 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA5669902 rs372675994 |
23 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5669904 rs766934575 |
25 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1189640899 CA377942120 |
26 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1435271717 CA377942128 |
27 | L>I | No |
ClinGen gnomAD |
|
|
rs1237767710 CA377942131 |
27 | L>R | No |
ClinGen gnomAD |
|
|
rs1317257468 CA377942143 |
29 | T>A | No |
ClinGen TOPMed |
|
|
rs1184690622 CA377942145 |
29 | T>I | No |
ClinGen gnomAD |
|
|
CA377942154 COSM3806365 rs760664254 |
30 | N>K | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA212323639 rs868851524 |
31 | G>S | No |
ClinGen Ensembl |
|
|
rs1173046166 CA377942159 |
31 | G>V | No |
ClinGen gnomAD |
|
|
rs1590216954 CA377942168 |
32 | C>W | No |
ClinGen Ensembl |
|
|
CA377942175 rs1373736285 |
34 | T>A | No |
ClinGen gnomAD |
|
|
CA377942176 rs1373736285 |
34 | T>P | No |
ClinGen gnomAD |
|
| TCGA novel | 38 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1590216967 CA377942211 |
39 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 39 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1326205388 CA377942214 |
40 | P>S | No |
ClinGen gnomAD |
|
|
rs369401059 CA5669908 |
41 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1363223825 CA377942243 |
44 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1363223825 CA377942242 |
44 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA377942241 rs1564789532 |
44 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA5669909 rs755170490 |
45 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs964288395 CA212323665 |
45 | E>G | No |
ClinGen gnomAD |
|
|
rs755170490 CA212323657 |
45 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs779145933 CA5669910 |
46 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377942250 rs1408514035 |
46 | A>T | No |
ClinGen TOPMed |
|
|
rs752948206 CA5669911 |
50 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA5669912 rs527650795 |
51 | H>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5669913 rs201702937 |
51 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747410528 CA5669914 |
54 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1027298145 CA212323686 |
55 | A>T | No |
ClinGen Ensembl |
|
|
rs771537950 CA5669915 |
57 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA5669937 rs80317306 |
61 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377942749 rs1590218336 |
62 | G>D | No |
ClinGen Ensembl |
|
|
CA377942760 rs1564790223 |
64 | V>E | No |
ClinGen Ensembl |
|
|
CA377942761 rs1564790223 |
64 | V>G | No |
ClinGen Ensembl |
|
|
rs770222107 CA5669940 |
71 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs556868245 CA212279032 |
73 | W>L | No |
ClinGen Ensembl |
|
|
rs1323594024 CA377942836 |
75 | L>V | No |
ClinGen gnomAD |
|
|
rs1334678689 CA377942848 |
76 | D>E | No |
ClinGen gnomAD |
|
|
CA212279048 rs549165947 |
78 | G>D | No |
ClinGen TOPMed |
|
|
rs1280998811 CA377942871 |
80 | G>E | No |
ClinGen gnomAD |
|
|
rs200487609 CA5669942 |
81 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1232508951 CA377942880 |
81 | S>R | No |
ClinGen gnomAD |
|
|
CA377942887 rs1336806206 |
83 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 84 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772572895 CA5669944 |
85 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs968300059 CA212279053 |
88 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA5669945 rs144713814 |
89 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376960692 CA212279073 |
90 | Q>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA377942939 rs1287204760 |
90 | Q>H | No |
ClinGen TOPMed |
|
|
CA212279077 rs200044145 |
90 | Q>L | No |
ClinGen 1000Genomes |
|
|
rs776502872 CA5669947 |
93 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA377942969 rs1387459327 |
95 | K>R | No |
ClinGen gnomAD |
|
|
rs759484385 CA5669948 |
98 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs764946632 CA5669949 |
99 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 102 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377943018 rs763075282 |
103 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA5669951 rs763075282 |
103 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA5669952 rs764428592 |
104 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA212279134 rs768336799 |
106 | G>D | No |
ClinGen gnomAD |
|
|
CA5669954 rs757323706 |
106 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1322002646 CA377943045 |
107 | Q>* | No |
ClinGen gnomAD |
|
|
CA5669967 rs769787447 |
110 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA5669968 rs775114350 |
112 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5669969 rs762851680 |
114 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377943124 rs1324570867 |
116 | D>G | No |
ClinGen gnomAD |
|
|
rs1294730152 CA377943121 |
116 | D>Y | No |
ClinGen gnomAD |
|
|
CA5669971 rs774570325 |
117 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA5669970 rs200488263 |
117 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1026219260 CA212279343 |
118 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5669972 rs762143284 |
118 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1377355848 CA377943178 |
119 | M>T | No |
ClinGen TOPMed |
|
|
CA5669973 rs767695284 |
119 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA5669976 rs750599990 |
121 | K>R | No |
ClinGen ExAC |
|
|
CA377943234 rs1260122867 |
122 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs767043343 CA5669978 |
125 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs754325734 CA5669979 |
125 | Q>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 127 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377943328 rs1360575705 |
128 | N>D | No |
ClinGen gnomAD |
|
|
CA5669983 rs756960577 |
134 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1258963773 CA377943433 |
134 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs112056792 CA212279381 |
136 | I>T | No |
ClinGen gnomAD |
|
|
CA212279382 rs79523510 |
137 | E>* | No |
ClinGen Ensembl |
|
|
rs1363948089 CA377943491 |
137 | E>G | No |
ClinGen TOPMed |
|
|
rs762165707 CA212279386 |
139 | L>S | No |
ClinGen TOPMed |
|
|
CA377943522 rs1232246567 |
139 | L>V | No |
ClinGen gnomAD |
|
|
rs570261906 CA5669984 |
142 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745420214 CA5669985 |
143 | G>* | No |
ClinGen ExAC gnomAD |
|
|
CA5669986 rs769693854 |
144 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA377943607 rs1487092868 |
147 | E>K | No |
ClinGen gnomAD |
|
|
CA377943620 rs1590218704 |
148 | S>N | No |
ClinGen Ensembl |
|
|
CA5669987 rs779988945 |
149 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA377943681 rs1433349197 |
151 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1426686843 CA377943672 |
151 | I>V | No |
ClinGen gnomAD |
|
|
CA5669989 rs768444358 |
152 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5669990 rs768444358 |
152 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377943976 rs1590219383 |
154 | S>* | No |
ClinGen Ensembl |
|
|
rs765621406 CA5670005 |
155 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA377943981 rs1216109829 |
155 | N>T | No |
ClinGen gnomAD |
|
|
rs753068101 CA5670006 |
156 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA377943988 rs1488561502 |
156 | C>Y | No |
ClinGen gnomAD |
|
|
CA377944006 rs1176256031 |
159 | N>D | No |
ClinGen gnomAD |
|
|
rs1248043014 CA377944027 |
160 | L>F | No |
ClinGen gnomAD |
|
|
rs1564790849 CA377944045 |
161 | V>E | No |
ClinGen Ensembl |
|
|
rs1404281913 CA377944053 |
162 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1416924116 CA377944076 |
163 | D>E | No |
ClinGen gnomAD |
|
|
rs1590219407 CA377944094 |
165 | Q>* | No |
ClinGen Ensembl |
|
|
rs1166838492 CA377944112 |
166 | Q>* | No |
ClinGen gnomAD |
|
|
rs563943815 CA5670008 |
166 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780869263 CA5670009 |
167 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs750094511 CA5670010 |
170 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs538040244 CA212280174 COSM1345517 |
173 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs35232887 CA5670011 VAR_027392 |
173 | R>W | frequency in African-Americans 0.008; not detected in Caucasian-Americans; enzyme activity is 31% of wild-type [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1230525541 CA377944357 |
176 | K>T | No |
ClinGen gnomAD |
|
|
CA5670033 rs748128749 |
177 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758201841 CA5670034 |
180 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1344988369 CA377945018 |
182 | Y>* | No |
ClinGen gnomAD |
|
|
rs1484271472 CA595223244 |
182 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs747221003 CA5670036 |
182 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs576986384 CA5670038 |
186 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5670039 rs745981957 |
188 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212281192 rs946259068 |
189 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5670041 rs775931783 |
191 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA377945088 rs1448629465 |
193 | P>S | No |
ClinGen TOPMed |
|
|
CA5670042 rs763450550 |
197 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs556211745 CA5670043 |
198 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5670045 rs774767962 |
200 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1245083068 CA377945137 |
200 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs868176114 CA212281206 |
202 | L>S | No |
ClinGen Ensembl |
|
|
CA5670046 rs370022454 CA5670047 |
203 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377945158 rs1479096777 |
203 | W>S | No |
ClinGen gnomAD |
|
|
rs776081980 CA5670068 |
204 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759240339 CA5670069 |
206 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212281811 rs1005762709 |
206 | C>Y | No |
ClinGen TOPMed |
|
|
CA5670070 rs764828334 |
208 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1564791785 CA377945194 |
208 | G>S | No |
ClinGen Ensembl |
|
|
rs1185308496 CA377945202 |
209 | G>D | No |
ClinGen TOPMed |
|
|
CA377945199 rs1258791235 |
209 | G>S | No |
ClinGen TOPMed |
|
|
rs556211181 CA212281829 |
210 | A>V | No |
ClinGen Ensembl |
|
|
rs752321300 CA5670071 |
213 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA377945234 rs1263674298 |
214 | K>E | No |
ClinGen gnomAD |
|
|
CA5670072 rs758378765 |
215 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA377945251 rs1210464364 |
216 | L>R | No |
ClinGen gnomAD |
|
|
rs777864791 CA212281844 |
216 | L>V | No |
ClinGen Ensembl |
|
|
CA5670073 rs192784484 |
217 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1207564649 CA377945258 |
218 | V>I | No |
ClinGen gnomAD |
|
|
CA5670074 rs531874964 |
221 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1242157572 CA377945314 |
223 | I>L | No |
ClinGen TOPMed |
|
|
rs1564791806 CA377945324 |
223 | I>M | No |
ClinGen Ensembl |
|
|
CA377945334 rs1218222079 |
224 | G>E | No |
ClinGen TOPMed |
|
|
CA5670075 rs370039020 |
226 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377945387 rs1290660299 |
227 | P>A | No |
ClinGen TOPMed |
|
|
CA5670077 rs750549428 |
228 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs756399134 COSM3396889 CA5670078 |
229 | R>C | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs896840873 CA212281856 |
229 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs756399134 CA377945415 |
229 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5670079 rs183878464 |
233 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5670081 rs188603798 |
234 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA377945500 rs1310348676 |
234 | N>K | No |
ClinGen gnomAD |
|
|
CA5670082 rs779354277 |
235 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA377945527 rs1340208767 |
236 | I>T | No |
ClinGen gnomAD |
|
|
rs748695393 CA5670083 |
236 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1363938932 CA377945659 |
244 | E>K | No |
ClinGen TOPMed |
|
|
CA212281862 rs769964483 |
246 | V>D | No |
ClinGen Ensembl |
|
|
rs952889240 CA212281867 |
247 | I>V | No |
ClinGen Ensembl |
|
|
rs201628647 CA5670087 |
248 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779064702 CA5670102 |
250 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA5670103 rs748589961 |
251 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs139656545 CA5670104 |
251 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1590221596 CA377945839 |
255 | A>S | No |
ClinGen Ensembl |
|
|
rs1458578761 CA377945847 |
256 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA377945850 rs1158289545 |
257 | F>L | No |
ClinGen gnomAD |
|
|
rs1386310668 CA377945859 |
258 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1460805924 CA377945862 |
258 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs559312927 CA212282067 CA5670105 |
261 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA377945887 rs1321238990 |
262 | H>R | No |
ClinGen gnomAD |
|
|
CA5670106 rs747427312 |
263 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs771442515 CA5670107 |
263 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA377945896 rs1303752102 |
264 | K>E | No |
ClinGen gnomAD |
|
|
CA5670109 rs762696583 |
266 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1266663351 CA377945916 |
267 | P>S | No |
ClinGen gnomAD |
|
|
rs768221077 CA5670112 |
268 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA5670113 rs773965312 |
269 | K>T | No |
ClinGen ExAC |
|
| TCGA novel | 270 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1268203047 CA377945950 |
272 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1238646346 CA377945959 |
273 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5670115 rs761629464 |
274 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs750353278 CA5670117 |
278 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1433440438 CA377945999 |
279 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA377945997 rs1311891557 |
279 | I>V | No |
ClinGen TOPMed |
|
|
CA5670118 CA377946009 rs760424988 |
281 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1409508111 CA377946017 |
282 | H>R | No |
ClinGen gnomAD |
|
|
CA212282162 rs1006659023 |
287 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA377946054 rs11191439 |
287 | M>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5670120 VAR_027393 rs11191439 |
287 | M>T | frequency in African-Americans 0.108 and Caucasian-Americans 0.100; enzyme activity is 350% of wild-type [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA377946066 rs1456502789 |
289 | D>Y | No |
ClinGen gnomAD |
|
|
rs755252196 CA5670121 |
290 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA5670122 rs372316717 |
291 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs967902054 CA212282185 |
294 | F>I | No |
ClinGen TOPMed |
|
|
CA5670123 rs752861775 |
295 | K>E | No |
ClinGen ExAC |
|
|
rs376489676 CA5670139 |
297 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5670140 rs200456819 |
297 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759723918 CA5670141 |
300 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765543616 CA5670143 |
302 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA377947603 rs1359617892 |
303 | D>G | No |
ClinGen gnomAD |
|
|
rs973756888 CA212287367 |
305 | E>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 305 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_027394 rs34556438 CA5670144 |
306 | T>I | frequency in Caucasian-Americans 0.008; not detected in African-Americans [UniProt] | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA377947677 rs1483898196 |
307 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA377947682 rs1204911434 |
308 | A>T | No |
ClinGen gnomAD |
|
|
rs758462910 CA5670145 |
308 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA377947697 rs1329107684 |
309 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5670148 rs757895180 COSM914271 |
311 | K>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1590228456 CA377947825 |
317 | Q>* | No |
ClinGen Ensembl |
|
|
CA5670151 rs202060999 |
317 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 318 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377947859 rs1412776096 |
319 | F>I | No |
ClinGen gnomAD |
|
|
CA212287410 rs982624494 |
319 | F>L | No |
ClinGen gnomAD |
|
|
CA5670152 rs778590347 |
320 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA377947891 rs1424241173 |
321 | I>N | No |
ClinGen gnomAD |
|
|
rs1450814342 CA377947903 |
322 | R>G | No |
ClinGen gnomAD |
|
|
rs928210555 CA212287416 |
324 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5670153 rs373467176 |
325 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs185077443 CA5670154 |
326 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA377947961 rs1343799858 |
327 | K>T | No |
ClinGen gnomAD |
|
|
CA5670155 rs772768594 |
328 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA377947979 rs1310276047 |
330 | T>A | No |
ClinGen gnomAD |
|
|
CA377948009 rs1343663349 |
334 | C>R | No |
ClinGen gnomAD |
|
|
rs1564795184 CA377948022 |
335 | S>F | No |
ClinGen Ensembl |
|
|
rs777191336 CA212287421 |
336 | A>T | No |
ClinGen gnomAD |
|
|
rs780298293 CA5670173 |
341 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752381804 CA5670174 |
343 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212292851 rs752381804 |
343 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5670176 rs777235719 |
345 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs924879665 CA212292876 |
346 | P>L | No |
ClinGen Ensembl |
|
|
CA5670177 rs369767870 |
349 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA377949585 rs1564797685 |
351 | E>D | No |
ClinGen Ensembl |
|
|
CA377949591 rs1227102565 |
352 | E>Q | No |
ClinGen TOPMed |
|
|
CA5670179 rs781065600 |
355 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs201071842 CA5670178 |
355 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377949683 rs1347705188 |
357 | K>E | No |
ClinGen gnomAD |
|
|
CA377949691 rs1385632603 |
357 | K>R | No |
ClinGen TOPMed |
|
|
rs1438187710 CA377949716 |
358 | S>F | No |
ClinGen gnomAD |
|
|
rs1438187710 CA377949711 |
358 | S>Y | No |
ClinGen gnomAD |
|
|
CA377949741 rs1326666544 |
360 | C>Y | No |
ClinGen gnomAD |
|
|
CA212292911 rs943149808 |
362 | P>L | No |
ClinGen TOPMed |
|
|
rs1283609623 CA377949781 |
363 | D>N | No |
ClinGen gnomAD |
|
|
CA5670182 rs182365639 |
363 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769572838 CA5670183 |
365 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377949825 rs1564797715 |
365 | A>V | No |
ClinGen Ensembl |
|
|
rs1462257328 CA377949846 |
367 | G>S | No |
ClinGen TOPMed |
|
|
CA377949876 rs1590234330 |
368 | C>W | No |
ClinGen Ensembl |
|
|
CA5670185 rs763227721 |
369 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA377949920 rs1374630100 |
371 | T>A | No |
ClinGen TOPMed |
|
|
rs1287846295 CA377950003 |
375 | C>* | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q9HBK9
1 regional properties for Q9HBK9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Methyltransferase domain | 70 - 215 | IPR025714 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.1.1.137 | Methyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| arsenite methyltransferase activity | Catalysis of the reaction: S-adenosyl-L-methionine + arsenite = S-adenosyl-L-homocysteine + methylarsonate. |
| methylarsonite methyltransferase activity | Catalysis of the reaction: S-adenosyl-L-methionine + methylarsonite = S-adenosyl-L-homocysteine + dimethylarsinate. |
| methyltransferase activity | Catalysis of the transfer of a methyl group to an acceptor molecule. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| arsonoacetate metabolic process | The chemical reactions and pathways involving arsonoacetate, a synthetic, organic compound containing a single arsenic atom. Arsonoacetate and other arsenic containing compounds are used in agricultural applications as animal feed additives, cotton defoliants and post-emergence grass herbicides. |
| methylation | The process in which a methyl group is covalently attached to a molecule. |
| toxin metabolic process | The chemical reactions and pathways involving a toxin, a poisonous compound (typically a protein) that is produced by cells or organisms and that can cause disease when introduced into the body or tissues of an organism. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAALRDAEIQ | KDVQTYYGQV | LKRSADLQTN | GCVTTARPVP | KHIREALQNV | HEEVALRYYG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CGLVIPEHLE | NCWILDLGSG | SGRDCYVLSQ | LVGEKGHVTG | IDMTKGQVEV | AEKYLDYHME |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KYGFQASNVT | FIHGYIEKLG | EAGIKNESHD | IVVSNCVINL | VPDKQQVLQE | AYRVLKHGGE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LYFSDVYTSL | ELPEEIRTHK | VLWGECLGGA | LYWKELAVLA | QKIGFCPPRL | VTANLITIQN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KELERVIGDC | RFVSATFRLF | KHSKTGPTKR | CQVIYNGGIT | GHEKELMFDA | NFTFKEGEIV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EVDEETAAIL | KNSRFAQDFL | IRPIGEKLPT | SGGCSALELK | DIITDPFKLA | EESDSMKSRC |
| 370 | |||||
| VPDAAGGCCG | TKKSC |