Q6GQQ9
EV
Gene name |
OTUD7B (ZA20D1) |
Protein name |
OTU domain-containing protein 7B |
Names |
Cellular zinc finger anti-NF-kappa-B protein, Cezanne, Zinc finger A20 domain-containing protein 1, Zinc finger protein Cezanne |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:56957 |
EC number |
3.4.19.12: Omega peptidases |
Protein Class |
UBIQUITIN THIOESTERASE (PTHR13367) |
Descriptions
Deubiquitinating enzymes of the ovarian tumor (OTU) family regulate cellular signaling by targeting distinct linkage types within polyubiquitin. OTUD7B regulates inflammation and NF-kB signaling, T-cell activation, and EGFR trafficking. OTUD7B is autoinhibited by the Cys-loop that occupies the channel that binds the C-terminal tail of distal ubiquitin.
Autoinhibitory domains (AIDs)
Target domain |
183-365 (OTU domain) |
Relief mechanism |
Ligand binding |
Assay |
Mutagenesis experiment, Structural analysis |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
4 structures for Q6GQQ9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5LRU | X-ray | 220 A | A | 129-438 | PDB |
| 5LRV | X-ray | 280 A | A | 129-438 | PDB |
| 5LRW | X-ray | 200 A | PDB | ||
| AF-Q6GQQ9-F1 | Predicted | AlphaFoldDB |
620 variants for Q6GQQ9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA342255988 rs1239605807 |
2 | T>I | No |
ClinGen TOPMed |
|
|
CA342255958 rs1181799229 |
4 | D>G | No |
ClinGen TOPMed |
|
|
rs1559850282 CA342255914 |
5 | M>T | No |
ClinGen Ensembl |
|
|
CA1072993 rs781830411 |
5 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs782132145 CA1072991 |
8 | V>I | No |
ClinGen ExAC TOPMed |
|
|
rs782132145 CA342255885 |
8 | V>L | No |
ClinGen ExAC TOPMed |
|
|
CA29994467 rs1043080613 |
9 | L>R | No |
ClinGen Ensembl |
|
|
CA342255830 rs1157124374 |
12 | F>I | No |
ClinGen TOPMed |
|
|
rs781894234 CA1072990 |
14 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781894234 CA342255798 |
14 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782815488 CA1072989 |
14 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782815488 CA342255791 |
14 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072988 rs782055988 |
16 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs587595212 CA1072985 |
18 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1072987 rs587651203 |
18 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs587595212 CA1072986 |
18 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA342255678 rs1553778828 |
21 | G>E | No |
ClinGen gnomAD |
|
|
rs782468732 CA1072983 |
23 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072981 rs782563016 |
24 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1302032570 CA342255646 |
24 | R>Q | No |
ClinGen TOPMed |
|
|
CA1072980 rs782322952 |
25 | D>E | No |
ClinGen ExAC |
|
|
CA342255638 rs1553778817 |
25 | D>N | No |
ClinGen gnomAD |
|
|
CA1072965 rs368498175 |
33 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1072964 rs782688020 |
34 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1419436270 CA342254734 |
36 | A>T | No |
ClinGen TOPMed |
|
|
CA342254728 rs1553777608 |
37 | A>T | No |
ClinGen gnomAD |
|
|
CA342254720 rs868994947 |
38 | L>F | No |
ClinGen Ensembl |
|
|
rs1363736828 CA342254715 |
39 | S>G | No |
ClinGen TOPMed |
|
|
CA342254712 rs1424071027 |
39 | S>T | No |
ClinGen TOPMed |
|
|
CA342254696 rs1553777599 |
41 | F>S | No |
ClinGen gnomAD |
|
|
CA1072962 rs781945447 |
42 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs903728341 CA29991808 |
43 | Q>E | No |
ClinGen Ensembl |
|
|
rs1553777591 CA342254682 |
43 | Q>R | No |
ClinGen gnomAD |
|
|
CA29991788 rs1042211574 |
45 | R>C | No |
ClinGen gnomAD |
|
|
rs587685362 CA1072961 |
45 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA342254670 rs587685362 |
45 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1571656741 CA342254668 |
46 | Q>E | No |
ClinGen Ensembl |
|
|
rs782241196 CA1072960 |
47 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs782589872 CA1072959 |
48 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782421949 CA1072958 |
51 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1072956 rs199683061 |
52 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1553777581 CA342254621 |
53 | P>L | No |
ClinGen gnomAD |
|
|
CA342254610 rs188862453 |
55 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1072954 rs188862453 |
55 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA342254598 rs782618857 |
57 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs782618857 CA1072953 |
57 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA1072951 rs781886432 |
60 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs373718380 CA29991699 |
61 | G>D | No |
ClinGen ESP TOPMed |
|
|
rs587703947 CA1072950 |
65 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1473423447 CA342254540 |
66 | P>R | No |
ClinGen TOPMed |
|
|
CA29991684 rs201983301 |
67 | E>K | No |
ClinGen 1000Genomes |
|
|
CA342254520 rs1553777542 |
69 | G>E | No |
ClinGen gnomAD |
|
|
rs781901173 CA29991677 |
70 | F>L | No |
ClinGen gnomAD |
|
|
CA342254515 rs1571656295 |
70 | F>V | No |
ClinGen Ensembl |
|
|
CA1072947 rs782740404 |
74 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781800633 CA1072948 |
74 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1553777535 CA342254478 |
75 | P>L | No |
ClinGen gnomAD |
|
|
rs781976010 CA1072946 |
76 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs781976010 CA1072945 |
76 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs200453789 CA1072944 |
77 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1072943 rs782158140 |
77 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs587747175 CA1072941 |
78 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs146741854 CA29991642 |
79 | P>S | No |
ClinGen Ensembl |
|
|
CA29991632 rs185769272 |
80 | R>* | No |
ClinGen 1000Genomes gnomAD |
|
|
CA29991629 rs1030113784 |
80 | R>Q | No |
ClinGen gnomAD |
|
|
rs1553777526 CA342254451 |
81 | P>L | No |
ClinGen gnomAD |
|
|
CA342254454 rs1553777527 |
81 | P>S | No |
ClinGen gnomAD |
|
|
CA342254449 rs1159315241 |
82 | I>V | No |
ClinGen TOPMed |
|
|
CA342254440 rs1553777519 |
83 | L>H | No |
ClinGen gnomAD |
|
|
CA342254435 rs1553777517 |
84 | Q>* | No |
ClinGen gnomAD |
|
|
CA1072940 rs782196549 |
84 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs374185264 CA1072938 |
85 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1072939 rs376031845 |
85 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1553777512 CA342254415 |
87 | D>G | No |
ClinGen gnomAD |
|
|
CA1072937 rs782250197 |
88 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1553777505 CA342254400 |
89 | I>T | No |
ClinGen gnomAD |
|
|
CA1072935 rs370826544 |
90 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1412645453 CA342253680 |
92 | E>G | No |
ClinGen TOPMed |
|
|
rs1553776908 CA342253660 |
93 | K>N | No |
ClinGen gnomAD |
|
|
rs753757221 CA1072920 |
94 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072919 rs781917234 |
94 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553776897 CA342253603 |
98 | G>D | No |
ClinGen gnomAD |
|
|
rs1553776897 CA342253606 |
98 | G>V | No |
ClinGen gnomAD |
|
|
rs782327031 CA1072918 |
99 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1335794928 CA342253577 |
100 | S>C | No |
ClinGen TOPMed |
|
|
rs782204651 CA1072917 |
101 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs782371961 CA342253564 |
102 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072915 rs782371961 |
102 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782251113 CA1072914 |
103 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1352691899 CA342253547 |
104 | S>F | No |
ClinGen TOPMed |
|
|
CA342253545 rs1553776884 |
105 | S>G | No |
ClinGen gnomAD |
|
|
CA1072913 rs782674990 |
106 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs202229859 CA1072911 |
108 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782560596 CA1072912 |
108 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs782593016 CA1072910 |
110 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA342253511 rs782757919 |
111 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072907 rs782757919 |
111 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781840092 CA1072908 |
111 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553776861 CA342253497 |
113 | H>Q | No |
ClinGen gnomAD |
|
|
rs199952869 CA1072905 |
113 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374049740 CA1072906 |
113 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1311788590 CA342253485 |
115 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1311788590 CA342253487 |
115 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA29989899 rs1052860006 |
117 | N>S | No |
ClinGen gnomAD |
|
|
rs1052860006 CA342253475 |
117 | N>T | No |
ClinGen gnomAD |
|
|
CA29989886 rs781933130 |
119 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs907247627 CA29989879 |
121 | G>A | No |
ClinGen Ensembl |
|
|
CA1072902 rs372664948 |
121 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1072900 rs372664948 |
121 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1072901 rs372664948 |
121 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342253432 rs1571645698 |
123 | S>G | No |
ClinGen Ensembl |
|
|
CA1072898 rs782396716 |
123 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1553776847 CA342253410 |
124 | N>I | No |
ClinGen gnomAD |
|
|
rs1553776847 CA342253411 |
124 | N>S | No |
ClinGen gnomAD |
|
|
rs1553776845 CA342253396 |
125 | E>G | No |
ClinGen gnomAD |
|
|
CA1072896 rs781926290 |
127 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA1072893 rs782620540 |
128 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs376918959 CA1072892 |
132 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1072891 rs782261183 |
133 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072889 rs587666570 |
136 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA342253150 rs1372866874 |
139 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs201350317 CA1072888 |
139 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342252919 rs1553776818 |
146 | D>V | No |
ClinGen gnomAD |
|
|
CA1072886 rs781882137 |
148 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782482324 CA1072885 |
148 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342252867 rs782482324 |
148 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782032273 CA29989791 |
151 | I>V | No |
ClinGen Ensembl |
|
|
CA342252564 rs1370294863 |
159 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs782139313 CA1072882 |
162 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA342252404 rs1553776790 |
166 | Q>* | No |
ClinGen gnomAD |
|
|
CA1072860 rs769955651 |
169 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs184168570 CA1072859 |
169 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1335342173 CA342251351 |
170 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs782784051 CA1072857 |
172 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs781982955 CA1072858 |
172 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA342251313 rs782153828 |
175 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781919888 CA1072855 |
178 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782322503 CA1072854 |
178 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1553776456 CA342251286 |
180 | S>P | No |
ClinGen gnomAD |
|
|
CA342251244 rs1571641714 |
184 | L>V | No |
ClinGen Ensembl |
|
|
rs1205417492 CA342251216 |
187 | A>S | No |
ClinGen TOPMed |
|
|
rs1263335607 CA342251194 |
189 | T>A | No |
ClinGen TOPMed |
|
|
rs782079820 CA1072853 |
189 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA342251083 rs1192877428 |
198 | A>S | No |
ClinGen TOPMed |
|
|
CA342251055 rs1476494569 |
200 | S>C | No |
ClinGen TOPMed |
|
|
rs782047554 CA29988926 |
201 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1072833 rs782164014 |
203 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs782403662 CA1072834 |
203 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1553776096 CA342250992 |
205 | G>R | No |
ClinGen gnomAD |
|
|
rs1553776095 CA342250987 |
206 | F>V | No |
ClinGen gnomAD |
|
|
CA342250960 rs1214554026 |
209 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1214554026 CA342250962 |
209 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA1072832 rs781915374 |
209 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072830 rs782221383 |
214 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs371453598 CA29988099 |
214 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA342250921 rs1553776079 |
215 | K>N | No |
ClinGen gnomAD |
|
|
CA342250902 rs1553776077 |
218 | Y>C | No |
ClinGen gnomAD |
|
|
rs754562190 CA342250891 |
220 | L>V | No |
ClinGen TOPMed |
|
|
CA1072828 rs782375384 |
221 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs782260856 CA1072827 |
222 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs367959051 CA1072826 |
222 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs782554644 CA1072825 |
224 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs782599522 CA1072823 |
225 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA342250844 rs1553776055 |
226 | E>A | No |
ClinGen gnomAD |
|
|
CA1072822 rs782486972 |
229 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342250807 rs1553776045 |
231 | K>R | No |
ClinGen gnomAD |
|
|
rs781918456 CA29988031 |
232 | R>K | No |
ClinGen TOPMed |
|
|
CA1072820 rs782785788 |
233 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1553776040 CA342250792 |
233 | R>H | No |
ClinGen gnomAD |
|
|
rs782583996 CA29988021 |
235 | R>K | No |
ClinGen gnomAD |
|
|
CA342250774 rs1553776035 |
236 | W>G | No |
ClinGen gnomAD |
|
|
rs782136058 CA1072819 |
241 | Q>R | No |
ClinGen ExAC TOPMed |
|
|
rs1571624976 CA342249939 |
248 | V>G | No |
ClinGen Ensembl |
|
|
CA1072795 rs782144287 |
251 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553775292 CA342249884 |
255 | Q>R | No |
ClinGen gnomAD |
|
|
CA1072794 rs782034964 |
256 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA1072793 rs782694252 |
262 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs761265356 CA29985895 |
265 | A>G | No |
ClinGen Ensembl |
|
|
rs1553775275 CA342249640 |
269 | P>T | No |
ClinGen gnomAD |
|
|
rs1553775272 CA342249622 |
270 | R>* | No |
ClinGen gnomAD |
|
|
CA342249619 rs1299787891 |
270 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA342249599 rs782078807 |
271 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782078807 CA1072792 |
271 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072791 rs781963434 |
272 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA342249515 rs1291865680 |
276 | N>K | No |
ClinGen TOPMed |
|
|
rs376125749 CA1072788 |
276 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA29985877 rs970489063 |
278 | A>T | No |
ClinGen Ensembl |
|
|
CA342249462 rs1489260811 |
279 | N>S | No |
ClinGen TOPMed |
|
|
rs782170838 CA1072786 |
281 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072787 rs782413129 |
281 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342249414 rs782170838 |
281 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209571725 CA342245998 |
285 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1553773059 CA342245990 |
285 | S>T | No |
ClinGen gnomAD |
|
|
CA1072765 rs782271267 |
288 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA342245939 rs1553773053 |
288 | E>Q | No |
ClinGen gnomAD |
|
|
CA1072762 rs377556262 |
289 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1072763 rs377556262 |
289 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377556262 CA1072764 |
289 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782588149 CA1072761 |
290 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781852554 CA1072759 |
295 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA29981873 rs1031646702 |
299 | V>I | No |
ClinGen gnomAD |
|
|
CA1072757 rs782546230 |
300 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072756 rs781899205 |
302 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1072754 rs782062961 |
304 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA1072752 rs782765134 |
310 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200022303 CA1072750 |
312 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072749 rs587645920 |
313 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1571597717 CA342245721 |
314 | A>T | No |
ClinGen Ensembl |
|
|
rs1553773014 CA342245693 |
315 | D>G | No |
ClinGen gnomAD |
|
|
rs202073778 CA1072748 |
317 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782331840 CA1072746 |
319 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs782331840 CA342245624 |
319 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1553773010 CA342245612 |
320 | D>N | No |
ClinGen gnomAD |
|
|
rs1559827410 CA342245590 |
321 | S>A | No |
ClinGen Ensembl |
|
|
CA1072743 rs782391644 |
322 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342245366 rs1553772938 |
327 | A>S | No |
ClinGen gnomAD |
|
|
CA342245338 rs1206127128 |
329 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1445792371 CA342245241 |
333 | G>E | No |
ClinGen TOPMed |
|
|
CA1072712 rs781867641 |
334 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072713 rs781867641 |
334 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072711 rs782789210 |
335 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs782159281 CA1072710 |
336 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs781912267 CA1072709 |
340 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA342244989 rs1553772918 |
345 | C>R | No |
ClinGen gnomAD |
|
|
rs782728121 CA1072708 |
345 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342244953 rs1553772912 |
346 | H>Q | No |
ClinGen gnomAD |
|
|
rs782028895 CA1072707 |
347 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA29981584 rs890760084 |
347 | R>H | No |
ClinGen Ensembl |
|
|
rs1417448698 CA342244926 |
348 | S>F | No |
ClinGen TOPMed |
|
|
rs781968829 CA1072706 |
348 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA1072705 rs782371570 |
351 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1553772902 CA342244856 |
353 | A>T | No |
ClinGen gnomAD |
|
|
rs782421208 CA342244757 |
355 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs782421208 CA1072702 |
355 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs782585042 CA1072700 |
359 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA1072699 rs782487665 |
361 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782487665 CA342244631 |
361 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342244566 rs1398947542 |
363 | V>M | No |
ClinGen TOPMed |
|
|
rs1553772889 CA342244514 |
365 | M>V | No |
ClinGen gnomAD |
|
|
rs1553772887 CA342244478 |
366 | E>K | No |
ClinGen gnomAD |
|
|
rs1553772881 CA342244411 |
368 | K>R | No |
ClinGen gnomAD |
|
|
rs782638540 CA1072696 |
369 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs782600554 CA1072674 |
380 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782608600 CA1072673 |
381 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781850884 CA1072672 |
383 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1553772753 CA342243780 |
383 | E>K | No |
ClinGen gnomAD |
|
|
rs1553772749 CA342243735 |
384 | Y>C | No |
ClinGen gnomAD |
|
|
CA1072671 rs782657088 |
384 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs982968662 CA29981331 |
385 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs782531744 CA1072670 |
386 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1072668 rs782702402 |
389 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1287622591 CA342243625 |
390 | H>R | No |
ClinGen TOPMed |
|
|
rs955131161 CA29981293 |
393 | V>E | No |
ClinGen Ensembl |
|
|
rs192984583 CA1072666 |
396 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1072665 rs782753568 |
398 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342243442 rs782753568 |
398 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342243417 rs1353809516 |
400 | E>* | No |
ClinGen TOPMed |
|
|
rs199956766 CA29981255 |
401 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs199956766 CA1072664 |
401 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs1553772735 CA342243359 |
402 | G>D | No |
ClinGen gnomAD |
|
|
rs1553772733 CA342243345 |
403 | K>E | No |
ClinGen gnomAD |
|
|
CA342243298 rs1311820471 |
404 | D>E | No |
ClinGen TOPMed |
|
|
CA1072662 rs782429859 |
407 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA342243169 rs370899293 |
408 | N>K | No |
ClinGen ESP gnomAD |
|
|
rs781929554 CA1072660 |
408 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1072659 rs782231489 |
410 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782231489 CA1072658 |
410 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868982317 CA342243031 |
412 | A>V | No |
ClinGen Ensembl |
|
|
CA342242713 rs1235513008 |
413 | S>R | No |
ClinGen TOPMed |
|
|
rs1553772384 CA342242670 |
415 | I>V | No |
ClinGen gnomAD |
|
|
CA1072642 rs201317692 |
417 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342242590 rs1030371296 |
418 | L>I | No |
ClinGen gnomAD |
|
|
CA1072641 rs373250907 |
420 | V>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1072640 rs370554158 |
421 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs587758844 CA1072639 |
421 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs376763450 CA342242432 |
426 | H>L | No |
ClinGen gnomAD |
|
|
CA29980641 rs376763450 |
426 | H>R | No |
ClinGen gnomAD |
|
|
CA1072636 rs781941856 |
427 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559824661 CA342242414 |
427 | S>I | No |
ClinGen Ensembl |
|
|
rs782338671 CA1072635 |
428 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553772363 CA342242379 |
429 | M>T | No |
ClinGen gnomAD |
|
|
rs376555406 CA1072634 |
429 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342242296 rs1402474178 |
433 | W>C | No |
ClinGen TOPMed |
|
|
rs1553772359 CA342242190 |
440 | A>T | No |
ClinGen gnomAD |
|
|
rs1553772357 CA342242184 |
440 | A>V | No |
ClinGen gnomAD |
|
|
CA342309887 rs1553771817 |
442 | A>D | No |
ClinGen gnomAD |
|
|
rs1553771819 CA342309900 |
442 | A>S | No |
ClinGen gnomAD |
|
|
rs1553771816 CA342309775 |
445 | A>V | No |
ClinGen gnomAD |
|
|
rs782083123 CA1072619 |
447 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782083123 CA1072618 |
447 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781974987 CA1072617 |
449 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1362857085 CA342309682 |
449 | S>P | No |
ClinGen TOPMed |
|
|
CA1072613 rs782306210 |
450 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1072614 rs782024074 |
450 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs74880610 CA30007022 |
451 | T>A | No |
ClinGen gnomAD |
|
|
CA1072612 rs782602969 |
451 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA30007029 rs74880610 |
451 | T>P | No |
ClinGen gnomAD |
|
|
rs782602969 CA1072611 |
451 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs782533327 CA1072608 |
452 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA1072609 rs200386540 |
452 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782533327 CA1072607 |
452 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA342309580 rs1553771794 |
454 | A>V | No |
ClinGen gnomAD |
|
|
rs1553771790 CA342309545 |
456 | D>E | No |
ClinGen gnomAD |
|
|
rs1264446965 CA342309486 |
458 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs587753080 CA30006972 |
459 | R>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs781900710 CA1072606 |
459 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA342309425 rs1553771775 |
461 | T>A | No |
ClinGen gnomAD |
|
|
CA342309328 rs1184364334 |
464 | S>C | No |
ClinGen TOPMed |
|
|
rs1443059261 CA342309202 |
468 | D>E | No |
ClinGen TOPMed |
|
|
CA1072601 rs782117628 |
469 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA342309160 rs1559822169 |
470 | E>K | No |
ClinGen Ensembl |
|
|
rs782800556 CA342309093 |
472 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782800556 CA1072598 |
472 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30006944 rs782266080 |
472 | V>F | No |
ClinGen Ensembl |
|
|
CA342309063 rs1553771764 |
473 | G>V | No |
ClinGen gnomAD |
|
|
rs587715656 CA1072597 |
474 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1454122623 CA342309050 |
474 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1072596 rs781930945 |
477 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA1072593 rs781977152 |
480 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072590 rs369849263 |
482 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782203154 CA1072588 |
483 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072589 rs782314653 |
483 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342308789 rs782490413 |
484 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072586 rs782490413 |
484 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072587 rs782602473 |
484 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342308774 rs1204845662 |
485 | K>* | No |
ClinGen TOPMed |
|
|
rs1553771736 CA342308715 |
487 | K>R | No |
ClinGen gnomAD |
|
|
rs1265486073 CA342308704 |
488 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1072585 rs781862578 |
489 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA1072584 rs782649998 |
490 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072583 rs782550671 |
490 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs781908531 CA342308594 |
492 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781908531 CA1072582 |
492 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342308599 rs1181282676 |
492 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1553771709 CA342308533 |
494 | K>R | No |
ClinGen gnomAD |
|
|
CA1072580 rs782712397 |
495 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1183805637 CA342308524 |
495 | D>G | No |
ClinGen TOPMed |
|
|
CA342308495 rs1409448344 |
496 | K>R | No |
ClinGen TOPMed |
|
|
CA1072579 rs782079652 |
497 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342308331 rs1553771696 |
504 | N>S | No |
ClinGen gnomAD |
|
|
rs1408123431 CA342308301 |
505 | K>T | No |
ClinGen TOPMed |
|
|
rs374679271 CA1072577 |
517 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342307956 rs1571581862 |
518 | K>E | No |
ClinGen Ensembl |
|
|
rs1553771685 CA342307930 |
519 | K>R | No |
ClinGen gnomAD |
|
|
CA342307860 rs782017047 |
521 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA1072575 rs782017047 |
521 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA1072574 rs199797117 |
522 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1392745300 CA342307784 |
523 | G>D | No |
ClinGen TOPMed |
|
|
rs1392745300 CA342307773 |
523 | G>V | No |
ClinGen TOPMed |
|
|
CA342307752 rs782049026 |
525 | M>L | No |
ClinGen ExAC TOPMed |
|
|
CA342307754 rs782049026 |
525 | M>L | No |
ClinGen ExAC TOPMed |
|
|
rs782049026 CA1072572 |
525 | M>V | No |
ClinGen ExAC TOPMed |
|
|
rs1553771666 CA342307712 |
526 | H>D | No |
ClinGen gnomAD |
|
|
CA342307646 rs1553771664 |
528 | K>R | No |
ClinGen gnomAD |
|
|
rs1224458655 CA342307593 |
530 | S>P | No |
ClinGen TOPMed |
|
|
CA342307523 rs1553771651 |
532 | P>R | No |
ClinGen gnomAD |
|
|
CA342307421 rs1553771638 |
537 | T>A | No |
ClinGen gnomAD |
|
|
rs371360199 CA1072570 |
537 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1072568 rs781989714 |
538 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072569 rs782233690 |
538 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251307128 CA342307319 |
542 | S>G | No |
ClinGen TOPMed |
|
|
CA342307304 rs1553771622 |
542 | S>R | No |
ClinGen gnomAD |
|
|
CA342307312 rs1553771625 |
542 | S>T | No |
ClinGen gnomAD |
|
|
CA342307289 rs782437350 |
543 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072563 rs782204756 |
544 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA30006694 rs370065632 |
544 | G>V | No |
ClinGen Ensembl |
|
|
CA1072562 rs782615700 |
547 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs367949752 CA342307233 |
548 | L>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA342307220 rs1571581382 |
548 | L>R | No |
ClinGen Ensembl |
|
|
CA1072560 rs367949752 |
548 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1559821559 CA342307210 |
549 | E>G | No |
ClinGen Ensembl |
|
|
rs1553771612 CA342307199 |
550 | K>* | No |
ClinGen gnomAD |
|
|
CA342307134 rs1553771605 |
553 | K>R | No |
ClinGen gnomAD |
|
|
rs587626616 CA1072558 |
555 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1553771594 CA342307031 |
559 | W>C | No |
ClinGen gnomAD |
|
|
rs1431367784 CA342307053 |
559 | W>R | No |
ClinGen TOPMed |
|
|
rs200706504 CA342306983 |
561 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA342306981 rs1463031294 |
561 | G>D | No |
ClinGen TOPMed |
|
|
CA30006657 rs200706504 |
561 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs372439997 CA342306942 |
564 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342306947 rs1553771586 |
564 | E>G | No |
ClinGen gnomAD |
|
|
rs1553771580 CA342306927 |
565 | E>A | No |
ClinGen gnomAD |
|
|
CA342306910 rs1369478505 |
567 | A>T | No |
ClinGen TOPMed |
|
|
rs782083871 CA1072554 |
569 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1553771572 CA342306889 |
570 | G>R | No |
ClinGen gnomAD |
|
|
CA342306874 rs1553771569 |
572 | V>E | No |
ClinGen gnomAD |
|
|
CA342306876 rs1219123718 |
572 | V>L | No |
ClinGen TOPMed |
|
|
CA1072552 rs782764400 |
575 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782140693 CA1072551 |
576 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342306835 rs782140693 |
576 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553771559 CA342306818 |
577 | P>L | No |
ClinGen gnomAD |
|
|
CA342306823 rs1553771561 |
577 | P>S | No |
ClinGen gnomAD |
|
|
CA342306811 rs1226188376 |
578 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1553771558 CA342306816 |
578 | A>T | No |
ClinGen gnomAD |
|
|
CA342306796 rs1553771555 |
580 | S>P | No |
ClinGen gnomAD |
|
|
rs782027892 CA1072550 |
581 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342306790 rs1274208494 |
581 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA342306792 rs1274208494 |
581 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1553771550 CA342306784 |
582 | G>D | No |
ClinGen gnomAD |
|
|
rs782183416 CA1072548 |
584 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072546 rs587731410 |
585 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781946340 CA1072547 |
585 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1072545 rs782239349 |
586 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA1072544 rs587669829 |
587 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1072543 rs782534716 |
587 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342306750 rs1429774769 |
588 | Y>D | No |
ClinGen TOPMed |
|
|
CA342306738 rs1553771530 |
589 | S>I | No |
ClinGen gnomAD |
|
|
CA30006551 rs587619958 |
591 | E>V | No |
ClinGen 1000Genomes |
|
|
CA342306716 rs1553771523 |
592 | V>A | No |
ClinGen gnomAD |
|
|
CA342306715 rs1553771523 |
592 | V>G | No |
ClinGen gnomAD |
|
|
CA342306719 rs1553771524 |
592 | V>L | No |
ClinGen gnomAD |
|
|
rs782444490 CA1072540 |
593 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1166109166 CA342306711 |
593 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1553771520 CA342306704 |
594 | Q>* | No |
ClinGen gnomAD |
|
|
CA342306697 rs1553771518 |
595 | S>G | No |
ClinGen gnomAD |
|
|
CA1072538 rs782741689 |
600 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA1072537 rs201692455 |
600 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1559821140 CA342306658 |
601 | T>S | No |
ClinGen Ensembl |
|
|
rs1553771508 CA342306654 |
602 | A>T | No |
ClinGen gnomAD |
|
|
CA1072536 rs781873761 |
603 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA342306647 rs781873761 |
603 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA1072535 rs371129481 |
605 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1553771502 CA342306621 |
606 | E>D | No |
ClinGen gnomAD |
|
|
CA1072534 rs782175104 |
606 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342306620 rs1571580388 |
607 | G>R | No |
ClinGen Ensembl |
|
|
rs1553771497 CA342306580 |
612 | V>A | No |
ClinGen gnomAD |
|
|
CA1072533 rs781799227 |
614 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs782601093 CA30006471 |
615 | L>P | No |
ClinGen gnomAD |
|
|
rs782734368 CA1072532 |
616 | K>N | No |
ClinGen ExAC |
|
|
rs1008401802 CA30006456 |
617 | M>V | No |
ClinGen gnomAD |
|
|
rs1553771492 CA342306543 |
618 | G>A | No |
ClinGen gnomAD |
|
|
CA342306538 rs1553771491 |
619 | H>R | No |
ClinGen gnomAD |
|
|
rs368587804 CA1072531 |
620 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1072530 rs587752053 |
620 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782377402 CA1072529 |
624 | Q>L | No |
ClinGen ExAC |
|
|
CA342306494 rs1553771476 |
625 | E>G | No |
ClinGen gnomAD |
|
|
rs1360492243 CA342306498 |
625 | E>K | No |
ClinGen TOPMed |
|
|
CA342306472 rs1553771475 |
628 | I>V | No |
ClinGen gnomAD |
|
|
rs782145588 CA1072528 |
630 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782033576 CA1072527 |
630 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072525 rs782197745 |
631 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA1072526 rs41265176 |
631 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA342306447 rs782595933 |
632 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782595933 CA1072524 |
632 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs187776611 CA30006406 |
634 | D>G | No |
ClinGen 1000Genomes |
|
|
rs1559820955 CA342306420 |
636 | E>G | No |
ClinGen Ensembl |
|
|
CA342306419 rs1559820955 |
636 | E>V | No |
ClinGen Ensembl |
|
|
rs1053856425 CA30006385 |
637 | E>K | No |
ClinGen Ensembl |
|
|
CA342306409 rs1242642282 |
638 | R>G | No |
ClinGen TOPMed |
|
|
CA1072522 rs199790009 |
639 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1466186933 CA342306374 |
643 | Q>* | No |
ClinGen TOPMed |
|
|
CA1072521 rs782244563 |
644 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA342306341 rs782543399 |
647 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA1072519 rs782543399 |
647 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1553771440 CA342306304 |
652 | I>T | No |
ClinGen gnomAD |
|
|
rs781909781 CA1072518 |
653 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs782463589 CA1072516 |
655 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs782125297 CA1072513 |
656 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA342306269 rs587630839 |
657 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1072509 rs370421419 |
658 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1072511 rs782817729 |
658 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072510 rs370421419 |
658 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342306243 rs1571579701 |
660 | G>A | No |
ClinGen Ensembl |
|
|
CA1072508 rs377142854 |
660 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782102465 CA1072507 |
661 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs981969685 CA30006231 |
663 | P>A | No |
ClinGen gnomAD |
|
|
CA342306212 rs1553771405 |
663 | P>L | No |
ClinGen gnomAD |
|
|
CA342306215 rs981969685 |
663 | P>S | No |
ClinGen gnomAD |
|
|
rs1553771403 CA342306169 |
666 | K>T | No |
ClinGen gnomAD |
|
|
rs1553771397 CA342306158 |
667 | P>S | No |
ClinGen gnomAD |
|
|
rs201320900 CA1072506 |
669 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347533782 CA342306119 |
670 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs202163044 CA1072505 |
671 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs990946486 CA30006188 |
675 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1072502 rs184817451 |
676 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1072501 rs184817451 |
676 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1072500 rs184817451 |
676 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1072497 rs371927155 |
678 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1331193649 CA342306003 |
679 | P>A | No |
ClinGen TOPMed |
|
|
CA1072495 rs781787180 |
679 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1072494 rs782712770 |
680 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782712770 CA342305988 |
680 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782469642 CA1072493 |
681 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs961330117 CA30006159 |
682 | E>K | No |
ClinGen TOPMed |
|
|
rs781843937 CA1072492 |
682 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072491 rs782763881 |
684 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072490 rs782137783 |
685 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1178179637 CA342305915 |
686 | M>T | No |
ClinGen TOPMed |
|
|
rs782018382 CA1072489 |
687 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072488 rs782820590 |
687 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs193286305 CA1072487 |
688 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781947466 CA1072486 |
689 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782351741 CA1072485 |
690 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs782242001 CA1072484 |
690 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA1072482 rs782404557 |
691 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1553771330 CA342305822 |
692 | Y>* | No |
ClinGen gnomAD |
|
|
CA1072480 rs782557628 |
693 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072481 rs782284502 |
693 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072477 rs199865805 |
695 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199865805 CA1072478 |
695 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1553771314 CA342305760 |
697 | T>I | No |
ClinGen gnomAD |
|
|
CA1072475 rs781876541 |
698 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1352123844 CA342305745 |
699 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs782547858 CA1072473 |
700 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs587750697 CA1072474 |
700 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1324169514 CA342305732 |
701 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1324169514 CA342305734 |
701 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA342305717 rs1053500855 |
703 | G>R | No |
ClinGen gnomAD |
|
|
rs1053500855 CA30006017 |
703 | G>W | No |
ClinGen gnomAD |
|
|
CA1072466 rs782031992 |
704 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs782142726 CA1072467 |
704 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs371589440 CA1072464 |
705 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781951290 CA1072463 |
708 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs782354201 CA1072462 |
709 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342305586 rs1553771296 |
710 | E>D | No |
ClinGen gnomAD |
|
|
rs935008075 CA30005962 |
712 | R>Q | No |
ClinGen TOPMed |
|
|
rs369467490 CA1072460 |
712 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1553771292 CA342305546 |
713 | R>G | No |
ClinGen gnomAD |
|
|
rs782298019 CA1072458 |
716 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA342305455 rs1424525972 |
718 | G>C | No |
ClinGen TOPMed |
|
|
rs782573242 CA1072457 |
718 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342305431 rs1553771280 |
719 | P>Q | No |
ClinGen Ensembl |
|
|
CA1072455 rs202017253 |
720 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342305416 rs1368875558 |
720 | C>R | No |
ClinGen TOPMed |
|
|
rs368495159 CA1072453 |
721 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368495159 CA1072454 |
721 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1553771266 CA342305392 |
722 | G>R | No |
ClinGen gnomAD |
|
|
CA1072451 rs376252200 |
723 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA30005914 rs931129288 |
724 | L>V | No |
ClinGen Ensembl |
|
|
CA1072450 rs782047521 |
727 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553771251 CA342305301 |
728 | A>G | No |
ClinGen gnomAD |
|
|
CA1072449 rs201225347 |
728 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1072447 rs782097716 |
729 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781981543 CA1072446 |
730 | F>S | No |
ClinGen ExAC |
|
|
CA342305243 rs782395622 |
731 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA1072445 rs782395622 |
731 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA342305210 rs587705269 |
732 | R>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA342305204 rs1553771238 |
732 | R>S | No |
ClinGen gnomAD |
|
|
rs587705269 CA1072443 |
732 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA342305192 rs1270015212 |
733 | Q>E | No |
ClinGen TOPMed |
|
|
rs1453888364 CA342305185 |
733 | Q>P | No |
ClinGen TOPMed |
|
|
CA1072442 rs782313356 |
738 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA1072441 rs782204024 |
738 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072440 rs782607766 |
739 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA342305074 rs1246599136 |
739 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1072439 rs782361799 |
742 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1170503865 CA342305021 |
742 | H>Q | No |
ClinGen TOPMed |
|
|
CA342304995 rs1388623432 |
744 | D>H | No |
ClinGen TOPMed |
|
|
rs782249280 CA1072438 |
744 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA342304913 rs1167781597 |
747 | P>L | No |
ClinGen TOPMed |
|
|
CA1072435 rs781786779 |
747 | P>S | No |
ClinGen ExAC |
|
|
rs782581576 CA1072434 |
748 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA342304907 rs1391213544 |
748 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA1072433 rs782470121 |
751 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA30005761 rs954269727 |
751 | P>S | No |
ClinGen Ensembl |
|
|
rs76350959 CA1072431 |
752 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs782126031 CA1072430 |
753 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA342304796 rs1559819913 |
754 | H>D | No |
ClinGen Ensembl |
|
|
CA1072429 rs781887438 |
754 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA342304761 rs1330386443 |
755 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA342304756 rs1330386443 |
755 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1559819878 CA342304748 |
756 | K>E | No |
ClinGen Ensembl |
|
|
rs1553771196 CA342304725 |
757 | D>N | No |
ClinGen gnomAD |
|
|
rs1028539832 CA30005744 |
759 | L>F | No |
ClinGen gnomAD |
|
|
rs782804760 CA1072427 |
760 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA342304657 rs1571577718 |
761 | R>G | No |
ClinGen Ensembl |
|
|
rs1553771189 CA342304647 |
762 | G>S | No |
ClinGen gnomAD |
|
|
rs587649806 CA1072426 |
763 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA342304580 rs1559819809 |
766 | P>S | No |
ClinGen Ensembl |
|
|
rs367568103 CA1072422 |
767 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782283906 CA1072420 |
767 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072421 rs782283906 |
767 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367568103 CA1072423 |
767 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367568103 CA1072424 |
767 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1072418 rs782317970 |
768 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072417 rs782213642 |
768 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072415 rs587752377 |
770 | R>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1553771156 CA342304414 |
773 | D>N | No |
ClinGen gnomAD |
|
|
rs868990517 CA342304395 |
774 | S>C | No |
ClinGen Ensembl |
|
|
CA1072412 rs782658838 |
775 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA342304338 rs1559819695 |
776 | S>N | No |
ClinGen Ensembl |
|
|
rs781793506 CA1072410 |
777 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA1072409 rs782732204 |
777 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342304237 rs1190639836 |
778 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs782769953 CA1072407 |
779 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072405 rs782141797 |
781 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA342304202 rs782141797 |
781 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1072403 rs782683888 |
783 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1370345159 CA342304144 |
785 | P>S | No |
ClinGen TOPMed |
|
|
CA342304126 rs1553771125 |
786 | D>V | No |
ClinGen gnomAD |
|
|
CA342304066 rs1553771121 |
790 | G>A | No |
ClinGen gnomAD |
|
|
rs1553771120 CA342304051 |
791 | G>S | No |
ClinGen gnomAD |
|
|
rs1553771119 CA342304033 |
792 | L>V | No |
ClinGen gnomAD |
|
|
rs370419766 CA1072398 |
793 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370419766 CA1072399 |
793 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1072400 rs200128430 |
793 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782003109 CA1072397 |
796 | P>S | No |
ClinGen ExAC TOPMed |
|
|
CA342303876 rs1553771112 |
800 | T>A | No |
ClinGen gnomAD |
|
|
rs782297708 CA1072395 |
800 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782297708 CA342303871 |
800 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342303805 rs1433663861 |
803 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs267598003 CA1072392 |
805 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1013492701 CA30005467 |
809 | F>L | No |
ClinGen Ensembl |
|
|
CA1072390 rs377196376 |
809 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA30005460 rs199673670 |
810 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA1072389 rs781882769 |
815 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA1072387 rs782429516 |
818 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1072385 rs201775933 |
821 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA30005401 rs1055012467 |
822 | C>Y | No |
ClinGen Ensembl |
|
|
rs1464501130 CA342303339 |
827 | L>Q | No |
ClinGen TOPMed |
|
|
CA342303303 rs1204316852 |
830 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
CA1072384 rs782091150 |
832 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1258596043 CA342303279 |
832 | R>W | No |
ClinGen TOPMed |
|
|
rs782776840 CA1072383 |
833 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072381 rs200227851 |
833 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1072382 rs782776840 |
833 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1072380 rs782036205 |
834 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553771068 CA342303224 |
835 | D>H | No |
ClinGen gnomAD |
|
|
rs1472769562 CA342303207 |
836 | G>R | No |
ClinGen TOPMed |
|
|
rs781954881 CA1072377 |
839 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q6GQQ9
Functions
| Description | ||
|---|---|---|
| EC Number | 3.4.19.12 | Omega peptidases |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR13367 | UBIQUITIN THIOESTERASE |
| PANTHER Subfamily | PTHR13367:SF8 | OTU DOMAIN-CONTAINING PROTEIN 7B |
| PANTHER Protein Class |
cysteine protease
protein modifying enzyme |
|
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| cysteine-type peptidase activity | Catalysis of the hydrolysis of peptide bonds in a polypeptide chain by a mechanism in which the sulfhydryl group of a cysteine residue at the active center acts as a nucleophile. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| K63-linked polyubiquitin modification-dependent protein binding | Binding to a protein upon poly-ubiquitination formed by linkages between lysine residues at position 63 in the target protein. |
| Lys48-specific deubiquitinase activity | Hydrolysis of Lys48-linked ubiquitin unit(s) from a ubiquitinated protein. |
| thiol-dependent deubiquitinase | An thiol-dependent isopeptidase activity that cleaves ubiquitin from a target protein to which it is conjugated. |
| zinc ion binding | Binding to a zinc ion (Zn). |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| adaptive immune response | An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). |
| in utero embryonic development | The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus. |
| mucosal immune response | An immune response taking place in mucosal tissues, including those of the intestinal tract, nasal and upper respiratory tract, and genital tract. |
| negative regulation of I-kappaB kinase/NF-kappaB signaling | Any process that stops, prevents, or reduces the frequency, rate or extent of -kappaB kinase/NF-kappaB signaling. |
| negative regulation of interleukin-8 production | Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-8 production. |
| negative regulation of protein localization to nucleus | Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to nucleus. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| protein deubiquitination | The removal of one or more ubiquitin groups from a protein. |
| protein deubiquitination involved in ubiquitin-dependent protein catabolic process | The removal of one or more ubiquitin groups from a protein as part of a process of ubiquitin-dependent protein catabolism. |
| protein K11-linked deubiquitination | A protein deubiquitination process in which a K11-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 11 of the ubiquitin monomers, is removed from a protein. |
| protein K48-linked deubiquitination | A protein deubiquitination process in which a K48-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 48 of the ubiquitin monomers, is removed from a protein. |
| protein K63-linked deubiquitination | A protein deubiquitination process in which a K63-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 63 of the ubiquitin monomers, is removed from a protein. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8TE49 | OTUD7A | OTU domain-containing protein 7A | Homo sapiens (Human) | SS |
| P21580 | TNFAIP3 | Tumor necrosis factor alpha-induced protein 3 | Homo sapiens (Human) | SS |
| Q60769 | Tnfaip3 | Tumor necrosis factor alpha-induced protein 3 | Mus musculus (Mouse) | SS |
| Q8R554 | Otud7a | OTU domain-containing protein 7A | Mus musculus (Mouse) | SS |
| B2RUR8 | Otud7b | OTU domain-containing protein 7B | Mus musculus (Mouse) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTLDMDAVLS | DFVRSTGAEP | GLARDLLEGK | NWDVNAALSD | FEQLRQVHAG | NLPPSFSEGS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GGSRTPEKGF | SDREPTRPPR | PILQRQDDIV | QEKRLSRGIS | HASSSIVSLA | RSHVSSNGGG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GGSNEHPLEM | PICAFQLPDL | TVYNEDFRSF | IERDLIEQSM | LVALEQAGRL | NWWVSVDPTS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QRLLPLATTG | DGNCLLHAAS | LGMWGFHDRD | LMLRKALYAL | MEKGVEKEAL | KRRWRWQQTQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QNKESGLVYT | EDEWQKEWNE | LIKLASSEPR | MHLGTNGANC | GGVESSEEPV | YESLEEFHVF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VLAHVLRRPI | VVVADTMLRD | SGGEAFAPIP | FGGIYLPLEV | PASQCHRSPL | VLAYDQAHFS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ALVSMEQKEN | TKEQAVIPLT | DSEYKLLPLH | FAVDPGKGWE | WGKDDSDNVR | LASVILSLEV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KLHLLHSYMN | VKWIPLSSDA | QAPLAQPESP | TASAGDEPRS | TPESGDSDKE | SVGSSSTSNE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GGRRKEKSKR | DREKDKKRAD | SVANKLGSFG | KTLGSKLKKN | MGGLMHSKGS | KPGGVGTGLG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GSSGTETLEK | KKKNSLKSWK | GGKEEAAGDG | PVSEKPPAES | VGNGGSKYSQ | EVMQSLSILR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TAMQGEGKFI | FVGTLKMGHR | HQYQEEMIQR | YLSDAEERFL | AEQKQKEAER | KIMNGGIGGG |
| 670 | 680 | 690 | 700 | 710 | 720 |
| PPPAKKPEPD | AREEQPTGPP | AESRAMAFST | GYPGDFTIPR | PSGGGVHCQE | PRRQLAGGPC |
| 730 | 740 | 750 | 760 | 770 | 780 |
| VGGLPPYATF | PRQCPPGRPY | PHQDSIPSLE | PGSHSKDGLH | RGALLPPPYR | VADSYSNGYR |
| 790 | 800 | 810 | 820 | 830 | 840 |
| EPPEPDGWAG | GLRGLPPTQT | KCKQPNCSFY | GHPETNNFCS | CCYREELRRR | EREPDGELLV |
| HRF |