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 Q13087

Entry ID Method Resolution Chain Position Source
AF-Q13087-F1 Predicted AlphaFoldDB

695 variants for Q13087

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV001263409
rs373590123
CA394053693
128 R>H Bicuspid aortic valve [ClinVar] Yes ClinGen
ClinVar
ESP
TOPMed
dbSNP
gnomAD
rs375763771
CA7772764
3 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7772765
rs200211074
3 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7772766
rs200211074
3 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA394049227
rs1369867447
4 Q>H No ClinGen
gnomAD
rs1231624291
CA394049245
5 L>P No ClinGen
gnomAD
rs759297031
CA7772768
7 P>R No ClinGen
ExAC
gnomAD
CA276491596
rs764795732
8 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs764795732
CA7772769
8 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs927724382
CA276491613
14 L>F No ClinGen
gnomAD
CA276491618
rs866883356
16 A>S No ClinGen
Ensembl
rs938980328
CA276491621
16 A>V No ClinGen
Ensembl
rs762917912
CA7772775
17 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs762917912
CA394049592
17 S>W No ClinGen
ExAC
TOPMed
gnomAD
CA7772777
rs751357691
19 P>A No ClinGen
ExAC
gnomAD
CA7772778
rs757040076
19 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs751357691
CA394049656
19 P>S No ClinGen
ExAC
gnomAD
rs199610908
CA7772780
20 W>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1458651907
CA394049743
21 G>D No ClinGen
TOPMed
CA7772781
rs755205619
22 Q>* No ClinGen
ExAC
gnomAD
CA276491648
rs762913132
23 E>K No ClinGen
gnomAD
rs778893713
CA394049887
24 Q>* No ClinGen
ExAC
rs778893713
CA7772782
24 Q>E No ClinGen
ExAC
CA394049898
rs1393107730
24 Q>R No ClinGen
TOPMed
gnomAD
CA7772784
rs202221434
26 A>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
COSM1579866
rs202221434
CA7772783
26 A>V central_nervous_system [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
rs771161420
CA7772788
27 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs745460507
CA7772790
28 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs1567248767
CA394050149
29 P>L No ClinGen
Ensembl
rs910032721
CA276491662
29 P>S No ClinGen
TOPMed
CA7772792
rs769578461
30 S>* No ClinGen
ExAC
TOPMed
gnomAD
rs769578461
CA7772791
30 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1224830898
CA394050219
31 E>D No ClinGen
gnomAD
rs1289719460
CA394050237
32 E>G No ClinGen
gnomAD
rs1215589103
CA394050266
33 P>L No ClinGen
gnomAD
rs200720054
CA7772795
33 P>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1253905972
CA394050272
34 P>A No ClinGen
gnomAD
CA7772796
rs376929316
34 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 35 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1230960382
CA394050353
36 E>G No ClinGen
gnomAD
CA7772797
rs767154871
37 E>K No ClinGen
ExAC
gnomAD
rs1159091193
CA394050482
38 I>T No ClinGen
TOPMed
gnomAD
rs45455191
CA7772798
VAR_048087
39 P>S No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs752750026
CA7772801
41 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs765500005
CA7772800
41 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1390455232
CA394050689
42 D>N No ClinGen
gnomAD
CA276491698
rs917510924
43 G>R No ClinGen
TOPMed
rs768170675
CA394050780
44 I>F No ClinGen
Ensembl
CA276491701
rs768170675
44 I>V No ClinGen
Ensembl
CA276491705
rs962094564
45 L>S No ClinGen
gnomAD
CA7772803
rs777942192
46 V>M No ClinGen
ExAC
gnomAD
CA7772804
rs751962286
47 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1333287299
CA394050899
48 S>R No ClinGen
gnomAD
CA394050952
rs1273873474
49 R>C No ClinGen
gnomAD
CA7772805
rs757796245
49 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs757796245
CA394050961
49 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA394050979
rs1173496190
50 H>Y No ClinGen
TOPMed
CA394051021
rs1389951094
51 T>S No ClinGen
Ensembl
CA7772807
rs746305346
52 L>R No ClinGen
ExAC
gnomAD
CA394051074
rs1390253242
53 G>D No ClinGen
TOPMed
CA394051054
rs1474173477
53 G>S No ClinGen
gnomAD
rs748977033
CA7772811
55 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA7772813
rs773922251
56 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs200654902
CA7772817
57 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs199805826
CA7772816
57 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1567248858
CA394051201
59 H>R No ClinGen
Ensembl
CA394051221
rs1294374909
61 A>T No ClinGen
gnomAD
CA7772820
rs368323306
61 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA394051279
rs1567248879
66 F>V No ClinGen
Ensembl
rs1316332169
CA394052630
67 Y>C No ClinGen
TOPMed
gnomAD
rs1408537527
CA394052644
68 A>D No ClinGen
TOPMed
rs372266436
CA7772854
69 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA276492808
rs372266436
69 P>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1567249329
CA394052672
70 W>* No ClinGen
Ensembl
rs1329266665
CA394052680
70 W>* No ClinGen
gnomAD
CA394052696
rs1212479825
71 C>Y No ClinGen
gnomAD
CA394052730
rs1477973238
73 H>R No ClinGen
gnomAD
CA394052724
rs1250795993
73 H>Y No ClinGen
TOPMed
gnomAD
CA394052748
rs1192198945
74 C>Y No ClinGen
gnomAD
rs1003087839
CA276492814
77 L>M No ClinGen
TOPMed
rs1417637061
CA394052798
78 A>D No ClinGen
TOPMed
gnomAD
CA394052797
rs1417637061
78 A>G No ClinGen
TOPMed
gnomAD
CA394052799
rs1417637061
COSM1377036
78 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA394052806
rs1161939680
79 P>L No ClinGen
gnomAD
rs1035512919
CA276492822
80 E>K No ClinGen
TOPMed
gnomAD
CA7772859
rs757884006
81 Y>C No ClinGen
ExAC
gnomAD
CA276492823
rs763297114
81 Y>H No ClinGen
TOPMed
gnomAD
rs1228280751
CA394052850
82 S>G No ClinGen
TOPMed
CA276492831
rs958809173
83 K>N No ClinGen
TOPMed
rs1596940841
CA394052873
83 K>R No ClinGen
Ensembl
rs1466415986
CA394052894
84 A>V No ClinGen
TOPMed
gnomAD
TCGA novel 86 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA394052931
rs199987128
87 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7772863
rs199987128
87 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1232202844
CA394052967
89 A>T No ClinGen
TOPMed
gnomAD
rs768743092
CA7772865
89 A>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 90 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs558374938
CA7772868
91 E>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs558374938
CA7772869
91 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs754129630
CA7772872
92 S>L No ClinGen
ExAC
gnomAD
rs767047256
CA7772871
92 S>P No ClinGen
ExAC
gnomAD
CA7772874
rs765549988
93 M>T No ClinGen
ExAC
gnomAD
rs115506610
CA7772873
93 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs951592626
CA276492886
94 V>A No ClinGen
TOPMed
rs752347005
CA7772875
94 V>M No ClinGen
ExAC
gnomAD
CA7772876
rs371790739
96 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs746588565
CA7772878
98 A>V No ClinGen
ExAC
gnomAD
CA394053138
rs1351097761
99 K>N No ClinGen
TOPMed
gnomAD
rs937133936
CA276492906
100 V>M No ClinGen
Ensembl
CA394053166
rs1309797134
101 D>A No ClinGen
TOPMed
CA276492907
rs1055378239
101 D>N No ClinGen
Ensembl
rs1222510850
CA394053176
102 G>R No ClinGen
TOPMed
CA7772880
rs781159293
103 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs916947925
CA276492910
103 P>S No ClinGen
gnomAD
CA394053211
rs1037921792
104 A>E No ClinGen
TOPMed
gnomAD
rs202228688
CA7772881
104 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1037921792
CA276492920
104 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
TCGA novel 105 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1454432383
CA394053219
105 Q>E No ClinGen
TOPMed
CA7772883
rs199711437
106 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7772885
rs748331680
106 R>H No ClinGen
ExAC
gnomAD
CA394053255
rs1485510620
107 E>D No ClinGen
TOPMed
gnomAD
CA7772887
rs773408295
107 E>K No ClinGen
ExAC
gnomAD
rs771532613
CA7772889
111 E>* No ClinGen
ExAC
gnomAD
rs1379486227
CA394053277
111 E>A No ClinGen
TOPMed
rs1478473384
CA394053325
113 G>A No ClinGen
gnomAD
rs182349041
CA394053367
115 T>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs182349041
CA7772893
115 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA394053370
rs182349041
115 T>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7772895
rs187002943
116 E>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs750328553
CA7772899
117 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA7772898
rs756805133
117 Y>D No ClinGen
ExAC
gnomAD
rs750328553
CA394053419
117 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA7772897
rs756805133
117 Y>H No ClinGen
ExAC
gnomAD
CA276492974
rs755831573
118 P>S No ClinGen
gnomAD
CA7772900
rs756007429
119 T>A No ClinGen
ExAC
gnomAD
CA394053454
rs45614840
119 T>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7772902
rs45614840
119 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_048088
rs45614840
CA7772901
119 T>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs747264012
CA7772906
123 F>S No ClinGen
ExAC
TOPMed
CA7772907
rs771084733
124 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs374722948
CA7772908
124 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374722948
CA394053590
124 R>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs770272113
CA7772910
125 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1031621023
CA276493055
126 G>R No ClinGen
TOPMed
CA7772913
rs367938749
128 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs367938749
CA394053684
128 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs373590123
CA276493068
128 R>P No ClinGen
ESP
TOPMed
gnomAD
COSM970406
CA7772914
rs200818617
129 T>M Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201820740
CA7772916
130 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774230086
CA7772918
131 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA7772917
rs749965703
131 P>S No ClinGen
ExAC
gnomAD
rs1041992279
CA276493103
132 E>G No ClinGen
gnomAD
CA7772921
rs754780227
132 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA7772922
rs778870993
133 E>K No ClinGen
ExAC
TOPMed
gnomAD
COSM970407
CA7772923
rs767849091
135 T>A endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA7772925
rs781330118
135 T>I No ClinGen
ExAC
gnomAD
rs767849091
CA7772924
135 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs1409795593
CA394053942
136 G>E No ClinGen
gnomAD
rs532272495
CA7772926
CA7772927
136 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA394053951
rs1355725772
137 P>S No ClinGen
TOPMed
rs11863142
CA7772958
138 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs771720140
CA7772957
138 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA7772959
rs760396848
139 D>N No ClinGen
ExAC
gnomAD
CA7772962
rs776284985
140 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs776284985
CA7772961
140 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1325095825
CA394054018
142 G>A No ClinGen
TOPMed
CA7772964
rs578059477
142 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs867457169
CA276493382
144 A>V No ClinGen
TOPMed
gnomAD
rs1378974329
CA394054060
145 E>A No ClinGen
TOPMed
CA7772966
rs200919010
145 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA394054079
rs1473959162
146 W>* No ClinGen
gnomAD
CA394054074
rs1255958422
146 W>R No ClinGen
TOPMed
gnomAD
CA7772967
rs750565788
147 L>V No ClinGen
ExAC
TOPMed
CA7772969
rs370453080
148 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780045155
CA7772970
148 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs367684102
CA7772972
149 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs753974693
CA7772971
149 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA7772974
rs200585521
150 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7772973
rs370270759
150 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs778212401
CA7772977
151 V>G No ClinGen
ExAC
rs772275346
CA7772976
151 V>M No ClinGen
ExAC
rs1374142072
CA394054169
152 G>W No ClinGen
gnomAD
CA7772980
rs376065186
153 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA394054193
rs1326141115
153 P>L No ClinGen
gnomAD
rs759166965
CA7772981
154 S>R No ClinGen
ExAC
gnomAD
CA394054220
rs1394092266
155 A>P No ClinGen
gnomAD
CA7772982
rs769824488
155 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1279575451
CA394054233
156 M>I No ClinGen
gnomAD
CA7772984
rs762974185
156 M>L No ClinGen
ExAC
gnomAD
CA7772986
rs560699869
157 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA7772985
rs369185635
157 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 158 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA394054248
rs1190602550
159 E>G No ClinGen
TOPMed
gnomAD
rs45593734
CA394054259
160 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7772990
rs766634062
161 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs368640160
CA7772991
162 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1384365120
CA394054273
163 A>P No ClinGen
gnomAD
rs1384365120
CA394054272
163 A>T No ClinGen
gnomAD
rs201535947
CA7772994
164 A>S No ClinGen
1000Genomes
ExAC
gnomAD
rs201535947
CA7772995
164 A>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1435610988
CA394054292
165 Q>E No ClinGen
gnomAD
rs199979141
CA7772997
166 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7772996
rs199979141
166 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs775081375
CA7773002
169 G>A No ClinGen
ExAC
gnomAD
CA7773001
rs201182745
169 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs768709968
CA7773004
171 R>Q No ClinGen
ExAC
gnomAD
CA7773003
COSM3690984
rs200501001
171 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs374019509
CA7773005
172 D>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs767328855
CA7773008
174 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA7773007
rs761632618
174 V>M No ClinGen
ExAC
gnomAD
rs759766478
CA7773010
175 V>L No ClinGen
ExAC
gnomAD
CA394054427
rs1440859514
176 I>N No ClinGen
Ensembl
rs758817588
CA7773013
179 F>L No ClinGen
ExAC
TOPMed
CA394054485
rs1173083838
180 Q>* No ClinGen
TOPMed
CA394054498
rs751841084
180 Q>H No ClinGen
ExAC
gnomAD
rs200228977
CA7773014
180 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7773042
rs754460211
181 D>H No ClinGen
ExAC
gnomAD
CA394054563
rs754460211
181 D>N No ClinGen
ExAC
gnomAD
CA276493713
rs778297395
182 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA394054576
rs778297395
182 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1413690564
CA394054585
183 Q>* No ClinGen
gnomAD
CA394054597
rs1489141451
183 Q>H No ClinGen
gnomAD
rs375612067
CA276493715
CA7773045
184 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs748011037
CA7773044
184 D>G No ClinGen
ExAC
gnomAD
rs769876785
CA394054623
185 E>D No ClinGen
ExAC
gnomAD
rs419949
CA7773047
VAR_048089
185 E>K No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs372580263
CA7773050
187 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs141542731
CA7773051
188 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA276493768
rs745414531
191 L>S No ClinGen
Ensembl
rs774579574
CA7773054
192 A>V No ClinGen
ExAC
gnomAD
CA7773058
rs750781857
194 A>V No ClinGen
ExAC
gnomAD
CA7773059
rs45619835
195 Q>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA394055715
rs543187098
196 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7773062
rs766673308
196 D>V No ClinGen
ExAC
gnomAD
CA7773064
rs146199896
197 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA394055759
rs1437576279
199 D>H No ClinGen
TOPMed
CA7773067
rs758307937
200 M>I No ClinGen
ExAC
gnomAD
rs182786959
CA7773066
200 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs746980351
CA394055857
203 G>R No ClinGen
ExAC
gnomAD
CA7773069
rs746980351
203 G>S No ClinGen
ExAC
gnomAD
CA394055876
rs1347526797
204 L>F No ClinGen
gnomAD
CA276494853
rs1038326301
206 D>V No ClinGen
TOPMed
rs372281111
CA7773071
206 D>Y No ClinGen
ESP
ExAC
gnomAD
rs148442250
CA7773074
207 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7773072
rs554427910
207 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7773075
rs762036991
208 P>A No ClinGen
ExAC
gnomAD
CA7773077
rs529793670
208 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs762036991
CA7773076
208 P>S No ClinGen
ExAC
gnomAD
rs369120877
CA7773080
209 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376264450
CA7773079
209 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1053318654
CA394055973
210 L>F No ClinGen
TOPMed
rs1053318654
CA276494874
210 L>V No ClinGen
TOPMed
rs892882155
CA276494875
213 Q>* No ClinGen
gnomAD
rs1244866071
CA394056052
213 Q>P No ClinGen
TOPMed
gnomAD
CA7773083
rs764918166
217 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA394056109
rs764918166
217 T>P No ClinGen
ExAC
TOPMed
gnomAD
CA7773085
rs372943195
218 K>M No ClinGen
ESP
ExAC
gnomAD
rs372943195
CA7773084
218 K>R No ClinGen
ESP
ExAC
gnomAD
CA394056149
rs1176357189
219 D>N No ClinGen
TOPMed
CA7773087
rs751457648
220 T>I No ClinGen
ExAC
gnomAD
CA7773089
rs376102312
221 V>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs868281531 221 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7773088
rs757148478
221 V>M No ClinGen
ExAC
gnomAD
rs1368890993
CA394056272
223 L>F No ClinGen
gnomAD
CA7773092
rs45591741
225 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1331246481
CA394056365
226 K>* No ClinGen
gnomAD
rs780004822
CA7773110
227 F>L No ClinGen
ExAC
gnomAD
rs1425090822
CA394056473
227 F>S No ClinGen
TOPMed
rs748310598
CA7773111
228 D>H No ClinGen
ExAC
gnomAD
CA276494956
rs569780896
230 G>E No ClinGen
1000Genomes
TOPMed
gnomAD
rs1305020712
CA394056532
230 G>R No ClinGen
gnomAD
rs569780896
CA394056547
230 G>V No ClinGen
1000Genomes
TOPMed
gnomAD
rs201566545
CA276494964
231 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
CA7773116
rs201566545
231 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
CA7773114
rs747106019
COSM1377038
231 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs577114086
CA7773117
234 F>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs1356578822
CA394056657
235 P>S No ClinGen
TOPMed
gnomAD
rs1356578822
CA394056653
235 P>T No ClinGen
TOPMed
gnomAD
CA394056678
rs770087656
236 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA7773120
rs770087656
236 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs541312273
CA7773121
237 D>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA394056704
rs367677538
CA394056702
237 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs374948503
CA7773123
238 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7773125
rs370007425
239 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs773893698
CA7773124
239 E>G No ClinGen
ExAC
gnomAD
CA276494991
rs911653182
240 L>R No ClinGen
TOPMed
CA394056752
rs1401987181
240 L>V No ClinGen
TOPMed
CA394056818
rs1344215013
244 L>V No ClinGen
gnomAD
CA394056840
rs1422449017
245 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA7773130
rs756121843
245 G>R No ClinGen
ExAC
gnomAD
CA394056850
rs766270520
246 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA7773131
rs766270520
246 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1237659912
CA394056860
246 D>V No ClinGen
gnomAD
rs200837199
CA276495023
247 L>M No ClinGen
ExAC
gnomAD
rs747942356
CA7773136
248 S>* No ClinGen
ExAC
TOPMed
gnomAD
rs747942356
CA7773135
248 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA7773138
rs372835448
249 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA394056914
rs372835448
249 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7773140
rs377242875
249 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7773139
rs377242875
249 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 250 F>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1295126998
CA394057003
253 T>I No ClinGen
gnomAD
rs768269726
CA7773145
254 H>D No ClinGen
ExAC
gnomAD
CA7773146
rs773839873
254 H>R No ClinGen
ExAC
gnomAD
CA276495095
rs886348559
256 M>T No ClinGen
TOPMed
rs761537026
CA7773147
257 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA7773148
rs369322100
257 R>H Variant assessed as Somatic; 9.295e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs761537026
CA394057074
257 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA394057084
rs1464156048
258 L>V No ClinGen
gnomAD
TCGA novel 260 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7773150
rs376254895
260 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1238754809
CA394057137
261 E>A No ClinGen
Ensembl
CA7773153
rs759364401
262 F>C No ClinGen
ExAC
TOPMed
gnomAD
rs759364401
CA276495118
262 F>S No ClinGen
ExAC
TOPMed
gnomAD
CA7773155
rs751675270
263 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs1596942728
CA394057187
263 N>S No ClinGen
Ensembl
CA394057207
rs1173222834
264 S>N No ClinGen
gnomAD
CA394057229
rs1388269706
265 Q>* No ClinGen
gnomAD
rs1455850363
CA394057242
CA394057240
265 Q>H No ClinGen
TOPMed
gnomAD
rs1448351156
CA394057237
265 Q>R No ClinGen
gnomAD
rs1366625634
CA394057337
266 T>A No ClinGen
gnomAD
CA7773189
rs147960863
266 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7773193
rs773377330
268 A>D No ClinGen
ExAC
gnomAD
rs1426497113
CA394057364
268 A>P No ClinGen
TOPMed
gnomAD
rs1427611090
CA394057376
269 K>T No ClinGen
TOPMed
CA394057385
rs1414200240
270 I>V No ClinGen
TOPMed
gnomAD
CA7773196
rs367835970
272 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs372165409
CA7773197
272 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1260902071
CA394057426
273 A>T No ClinGen
TOPMed
rs753168115
CA7773199
274 R>G No ClinGen
ExAC
gnomAD
rs1340491207
CA394057440
274 R>K No ClinGen
TOPMed
gnomAD
CA276495316
rs1012031593
275 I>F No ClinGen
TOPMed
gnomAD
CA394057446
rs1012031593
275 I>V No ClinGen
TOPMed
gnomAD
CA7773200
rs758749924
277 N>D No ClinGen
ExAC
gnomAD
rs1280315747
CA394057461
277 N>S No ClinGen
TOPMed
rs778288105
CA7773201
278 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA394057473
rs1368299088
279 L>P No ClinGen
gnomAD
rs1446317644
CA394057482
281 L>V No ClinGen
TOPMed
gnomAD
CA7773202
rs746601840
283 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA394057494
rs746601840
283 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA7773203
rs757027267
284 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs1339170178
CA394057502
284 N>T No ClinGen
TOPMed
CA394057521
rs1172340488
285 Q>H No ClinGen
TOPMed
gnomAD
rs2685127
CA7773204
VAR_048090
286 T>M No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA394057532
rs2685127
286 T>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7773208
rs1555470816
288 A>T No ClinGen
Ensembl
rs749211265
CA7773210
288 A>V No ClinGen
ExAC
gnomAD
rs201324374
CA7773212
289 A>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs768369627
CA7773211
289 A>T No ClinGen
ExAC
gnomAD
rs201324374
CA7773213
289 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs759614191
CA7773216
290 H>R No ClinGen
ExAC
gnomAD
rs956040111
CA276495340
COSM1163113
290 H>Y pancreas [Cosmic] No ClinGen
cosmic curated
Ensembl
rs201912828
CA394057582
291 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA394057586
rs368987592
291 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7773219
rs368987592
291 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7773218
rs201912828
291 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs147940951
COSM110467
CA276495384
292 E>K skin [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs147940951
CA7773220
292 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7773221
rs752037022
292 E>V No ClinGen
ExAC
gnomAD
rs200893733
CA7773222
293 L>V No ClinGen
1000Genomes
ExAC
gnomAD
CA394057613
rs1447634085
294 L>I No ClinGen
gnomAD
rs200200585
CA7773224
295 A>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1188011565
CA394057624
295 A>T No ClinGen
gnomAD
rs200200585
CA7773223
295 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA276495435
rs933047026
296 G>A No ClinGen
TOPMed
rs933047026
CA276495433
296 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA7773227
rs749239561
296 G>S No ClinGen
ExAC
gnomAD
rs768650506
CA7773228
300 A>T No ClinGen
ExAC
gnomAD
CA394057700
rs778650775
301 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA7773229
rs778650775
301 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs200005538
CA7773230
COSM39275
303 R>C central_nervous_system [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1377045
rs771878372
CA7773231
303 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs776873601
CA7773232
304 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA276495475
rs556947013
305 R>G No ClinGen
1000Genomes
ExAC
TOPMed
rs371259231
CA7773236
305 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371259231
CA7773235
305 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7773233
rs556947013
305 R>W No ClinGen
1000Genomes
ExAC
TOPMed
rs763549092
CA394057751
306 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs763549092
CA7773237
306 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA276495487
rs961972698
306 G>W No ClinGen
TOPMed
CA7773240
rs762217040
307 Q>R No ClinGen
ExAC
gnomAD
CA394057822
rs1409374785
308 V>L No ClinGen
gnomAD
rs201756210
CA7773269
309 L>P No ClinGen
1000Genomes
ExAC
gnomAD
rs746819708
CA276495625
310 F>L No ClinGen
ExAC
gnomAD
CA7773273
rs367697402
311 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7773274
rs201173019
312 V>M No ClinGen
1000Genomes
ExAC
gnomAD
CA394057889
rs1290745812
313 V>A No ClinGen
gnomAD
rs1230092987
CA394057881
313 V>M No ClinGen
TOPMed
gnomAD
CA394057893
rs1222322395
314 D>N No ClinGen
TOPMed
CA7773277
rs768786654
315 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs768786654
CA7773276
315 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs45459806
CA394057922
316 A>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7773278
rs145351921
316 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA276495634
rs145351921
316 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs45459806
CA7773279
316 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1185975678
CA394057929
317 A>T No ClinGen
gnomAD
rs1386176626
CA394057935
COSM1581439
317 A>V haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA7773282
rs548225140
318 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 319 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1410776705
CA394057949
319 N>S No ClinGen
gnomAD
rs1333536958
CA394057963
321 H>D No ClinGen
TOPMed
gnomAD
rs1333536958
CA394057962
321 H>Y No ClinGen
TOPMed
gnomAD
rs752271699
CA7773286
322 V>A No ClinGen
ExAC
gnomAD
CA7773284
rs199881504
322 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs199881504
CA7773285
322 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA394057973
rs763986879
323 L>M No ClinGen
ExAC
gnomAD
rs1249444700
CA394057977
323 L>R No ClinGen
gnomAD
rs1359895366
CA620305018
324 Q>* No ClinGen
gnomAD
CA7773289
rs751537258
324 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA7773290
rs756960309
324 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs781137424
CA7773291
326 F>L No ClinGen
ExAC
gnomAD
rs947940575
CA276495697
326 F>L No ClinGen
Ensembl
rs779128222
CA7773294
327 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs749460401
CA7773292
CA7773293
327 G>R No ClinGen
ExAC
gnomAD
rs748292003
CA7773295
328 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs772218677
CA7773296
328 L>H No ClinGen
ExAC
gnomAD
rs773555888
CA7773297
329 K>N No ClinGen
ExAC
gnomAD
CA276495723
rs906326619
330 A>T No ClinGen
gnomAD
CA7773298
rs747556946
330 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs200996059
CA7773299
331 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs777039250
CA7773300
332 A>V No ClinGen
ExAC
gnomAD
rs369218895
CA7773301
333 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs763690369
CA7773306
334 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs762318701
CA7773305
334 P>S No ClinGen
ExAC
CA7773308
rs761821338
335 T>A No ClinGen
ExAC
CA394058041
rs1434318867
335 T>I No ClinGen
gnomAD
CA394058037
rs761821338
335 T>P No ClinGen
ExAC
rs1596943967
CA394058044
336 L>R No ClinGen
Ensembl
CA7773309
rs376635129
337 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7773310
rs750307363
337 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA7773312
rs369804507
339 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs925341504
CA276495847
340 N>I No ClinGen
TOPMed
gnomAD
rs925341504
CA394058065
340 N>S No ClinGen
TOPMed
gnomAD
rs925341504
CA394058066
340 N>T No ClinGen
TOPMed
gnomAD
CA7773313
rs752996989
340 N>Y No ClinGen
ExAC
gnomAD
rs758345743
CA7773314
341 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA394058072
rs1203915428
341 L>R No ClinGen
gnomAD
rs1447937047
CA394058091
344 T>I No ClinGen
gnomAD
rs199850017
CA7773315
344 T>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs45612235
CA7773317
345 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA394058105
rs1411354096
346 K>N No ClinGen
gnomAD
CA7773318
rs781506454
346 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs746279682
CA394058114
347 Y>* No ClinGen
ExAC
TOPMed
gnomAD
CA394058116
rs1287050015
348 A>P No ClinGen
gnomAD
CA394058115
rs1287050015
348 A>T No ClinGen
gnomAD
CA7773320
rs770165640
348 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs762669316
CA7773322
350 V>A No ClinGen
ExAC
gnomAD
CA394058135
rs1343215550
351 D>G No ClinGen
gnomAD
rs45503792
CA7773325
352 G>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs45503792
CA7773324
352 G>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs746140719 353 G>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs767599249
CA7773327
353 G>S No ClinGen
ExAC
gnomAD
rs760509474
CA394058150
354 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA7773329
rs760509474
354 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs768062505
CA276495932
354 P>S No ClinGen
TOPMed
gnomAD
CA276495933
rs987648566
356 T>A No ClinGen
Ensembl
CA394058162
rs1209583037
356 T>I No ClinGen
gnomAD
CA7773334
rs200219634
357 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs200219634
CA394058163
357 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs200219634
CA7773333
357 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs375852621
CA7773335
357 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781628123
CA7773336
358 A>E No ClinGen
ExAC
TOPMed
gnomAD
rs781628123
CA276495967
358 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1461954224
CA394058171
359 S>P No ClinGen
TOPMed
rs770075649
CA7773338
361 T>N No ClinGen
ExAC
gnomAD
CA394058191
rs770075649
361 T>S No ClinGen
ExAC
gnomAD
CA394058193
rs1162384959
362 A>T No ClinGen
gnomAD
CA394058198
rs1363505419
362 A>V No ClinGen
gnomAD
CA394058246
rs535742977
365 H>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs773699101
CA7773342
366 A>V No ClinGen
ExAC
TOPMed
rs201555942
CA7773344
367 V>I No ClinGen
ExAC
gnomAD
CA7773346
rs760706106
368 L>P No ClinGen
ExAC
gnomAD
CA7773345
rs199529442
368 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs776557737
CA7773348
369 N>D No ClinGen
ExAC
gnomAD
rs764426526
CA7773350
370 G>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7773352
rs757287656
370 G>D No ClinGen
ExAC
gnomAD
rs764426526
CA7773351
370 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs767586577
CA7773353
371 Q>* No ClinGen
ExAC
gnomAD
CA7773354
rs750870200
371 Q>P No ClinGen
ExAC
gnomAD
CA7773355
rs756668913
372 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA394058325
rs1182920068
373 K>E No ClinGen
gnomAD
CA7773399
rs751287098
375 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA7773398
rs777520679
375 Y>H No ClinGen
ExAC
gnomAD
rs1344011448
CA394059280
376 L>F No ClinGen
TOPMed
gnomAD
rs1344011448
CA394059276
COSM970417
376 L>I Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA7773401
rs780580369
378 S>G No ClinGen
ExAC
gnomAD
CA394059311
rs1308480781
378 S>N No ClinGen
TOPMed
rs1308480781
CA394059314
378 S>T No ClinGen
TOPMed
rs199813441
CA7773402
379 Q>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs199813441
CA276496632
379 Q>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs199813441
CA276496630
379 Q>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7773403
rs769683958
380 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA7773404
rs45529833
VAR_048091
382 P>A No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs45529833
CA394059384
382 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1184799496
CA394059406
383 P>A No ClinGen
TOPMed
rs1472796664 383 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA276496677
rs949137926
387 Q>* No ClinGen
TOPMed
gnomAD
CA394059506
rs540057615
388 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs400037
CA7773409
VAR_048092
388 R>Q No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA276496679
rs540057615
388 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA7773411
rs771034938
389 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA394059531
rs1201344404
390 V>G No ClinGen
TOPMed
gnomAD
CA276496693
rs967990870
390 V>L No ClinGen
Ensembl
rs760057508
CA7773414
392 T>N No ClinGen
ExAC
CA276496714
rs778970931
393 L>F No ClinGen
TOPMed
gnomAD
CA394059557
rs778970931
393 L>I No ClinGen
TOPMed
gnomAD
CA394059570
rs1489629692
394 V>E No ClinGen
TOPMed
CA276496717
rs200448607
394 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7773417
rs200448607
394 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376852015
CA7773418
395 G>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376852015
CA394059579
395 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1422901769
CA394059573
395 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs376852015
CA394059578
395 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA394059600
rs1268728241
397 N>I No ClinGen
TOPMed
CA394059623
rs1428286969
399 E>K No ClinGen
gnomAD
CA394059640
rs1326976693
400 Q>* No ClinGen
TOPMed
rs1596949074
CA394059658
401 V>G No ClinGen
Ensembl
CA7773420
rs375517847
401 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs141027540
CA7773422
402 A>V No ClinGen
1000Genomes
ESP
TOPMed
gnomAD
rs373601500
CA7773425
404 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201901210
CA7773427
405 E>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201901210
CA7773426
405 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1321950121
CA394059724
406 T>I No ClinGen
TOPMed
TCGA novel 407 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778740518
CA7773432
410 F>C No ClinGen
ExAC
TOPMed
CA7773433
rs778740518
410 F>S No ClinGen
ExAC
TOPMed
rs1567251674
CA394059790
411 V>D No ClinGen
Ensembl
CA394059815
rs1567251679
413 F>L No ClinGen
Ensembl
rs540602732
CA7773462
416 P>A No ClinGen
1000Genomes
ExAC
gnomAD
rs562178952
CA7773464
416 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7773463
rs562178952
416 P>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7773467
rs544466936
417 W>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs544466936
CA7773468
417 W>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA394059900
rs1312771320
417 W>L No ClinGen
TOPMed
rs1325311999
CA394059894
417 W>R No ClinGen
TOPMed
rs1312771320
CA394059898
417 W>S No ClinGen
TOPMed
rs765872416
CA394059907
418 C>G No ClinGen
ExAC
gnomAD
rs765872416
CA7773470
418 C>R No ClinGen
ExAC
gnomAD
rs765872416
CA7773469
418 C>S No ClinGen
ExAC
gnomAD
CA394059910
rs1446775968
418 C>Y No ClinGen
gnomAD
rs1302638034
CA394059927
419 T>I No ClinGen
TOPMed
rs752712929
CA7773473
420 H>P No ClinGen
ExAC
gnomAD
rs765036253
CA7773472
420 H>Y No ClinGen
ExAC
gnomAD
rs1279264197
CA394059989
424 M>T No ClinGen
Ensembl
CA394060005
rs1596949694
425 A>G No ClinGen
Ensembl
rs758063486
CA7773474
425 A>T No ClinGen
ExAC
gnomAD
rs777636609
CA7773475
426 P>S No ClinGen
ExAC
gnomAD
CA394060024
rs1178492539
427 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA7773476
rs746061835
428 W>* No ClinGen
ExAC
gnomAD
CA394060043
rs1381417947
429 E>K No ClinGen
gnomAD
rs756471109
CA7773477
430 A>E No ClinGen
ExAC
gnomAD
CA394060099
rs1567251817
433 E>D No ClinGen
Ensembl
rs1320799677
CA394060095
433 E>G No ClinGen
gnomAD
rs768874811
CA394060091
COSM163388
433 E>K breast [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA7773480
rs768874811
433 E>Q No ClinGen
ExAC
gnomAD
rs1596949770
TCGA novel
CA394060117
435 Y>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
Ensembl
rs1224882810
CA394060130
436 Q>* No ClinGen
gnomAD
rs1567251821
CA394060142
436 Q>H No ClinGen
Ensembl
CA7773482
rs779246274
438 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7773485
rs369453251
439 E>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7773484
rs772314078
439 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs954018375
CA276497016
440 D>H No ClinGen
TOPMed
CA276497027
rs986191612
442 I>L No ClinGen
Ensembl
rs1168383612
CA394060214
442 I>T No ClinGen
TOPMed
gnomAD
CA394060221
rs1017094458
443 I>F No ClinGen
TOPMed
gnomAD
CA276497043
rs1017094458
443 I>V No ClinGen
TOPMed
gnomAD
rs770623196
CA7773488
444 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA7773487
rs760293954
444 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA276497057
rs760293954
444 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs776288299
CA394060241
445 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA7773490
rs776288299
445 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7773493
rs372514598
447 D>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1419856553
CA394060273
448 A>T No ClinGen
gnomAD
rs763004639
CA7773494
449 T>A No ClinGen
ExAC
gnomAD
CA7773496
COSM3817937
rs763790305
449 T>M Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
CA394060299
rs1343310017
450 A>T No ClinGen
gnomAD
CA394060324
rs371087103
452 E>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7773502
COSM1493696
rs371087103
452 E>K kidney Variant assessed as Somatic; 4.643e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7773501
rs371087103
452 E>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA276497120
rs905325415
453 L>M No ClinGen
TOPMed
gnomAD
CA394060335
rs905325415
453 L>V No ClinGen
TOPMed
gnomAD
rs754944090
CA7773503
454 D>G No ClinGen
ExAC
gnomAD
CA7773504
rs779060528
455 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs748600407
CA7773505
456 F>C No ClinGen
ExAC
gnomAD
CA394060378
rs777980410
457 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs777980410
CA7773507
457 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA7773508
rs747329727
458 V>A No ClinGen
ExAC
gnomAD
rs1440054220
CA394060407
459 H>R No ClinGen
TOPMed
gnomAD
rs1567251891 459 H>STMGSKEEL* No Ensembl
rs113159258
CA7773510
COSM1377081
460 G>S large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1426187039
CA394060450
462 P>S No ClinGen
TOPMed
gnomAD
CA394060469
rs1393888312
463 T>A No ClinGen
TOPMed
CA276497207
rs763405255
465 K>Q No ClinGen
gnomAD
CA394060531
rs1378352443
466 Y>* No ClinGen
gnomAD
rs775132153
CA7773515
466 Y>S No ClinGen
ExAC
gnomAD
rs1245658758
CA394060542
467 F>V No ClinGen
TOPMed
gnomAD
rs185235292
CA7773516
468 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA276497218
rs889813866
468 P>T No ClinGen
TOPMed
rs1250765063
CA394060572
469 A>S No ClinGen
TOPMed
gnomAD
CA7773518
rs751560976
470 G>R No ClinGen
ExAC
gnomAD
rs367811188
CA7773520
471 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs367811188
CA276497232
471 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs754052786
CA7773521
472 G>D No ClinGen
ExAC
gnomAD
CA394060610
rs1383171204
472 G>R No ClinGen
gnomAD
CA7773524
rs118177911
473 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs116969376
CA276497279
473 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7773525
rs116969376
473 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs118177911
CA7773523
473 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1258102758
CA394060634
474 K>* No ClinGen
TOPMed
CA276497483
rs897258052
476 I>T No ClinGen
TOPMed
gnomAD
rs201317550
CA7773569
478 Y>* No ClinGen
ESP
TOPMed
rs374859186
CA7773567
478 Y>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1415571644
CA394060833
479 K>E No ClinGen
gnomAD
rs930107119
CA276497493
479 K>I No ClinGen
TOPMed
gnomAD
TCGA novel 479 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA394060888
rs138762531
481 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs762285161
CA7773571
481 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs138762531
CA7773572
481 T>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1299021254
CA394060905
482 R>K No ClinGen
TOPMed
gnomAD
CA7773575
rs45585539
483 D>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7773574
rs45585539
483 D>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7773573
rs750924414
483 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA394060932
rs1276718054
484 L>M No ClinGen
gnomAD
CA7773576
rs753512209
484 L>P No ClinGen
ExAC
gnomAD
CA7773577
rs752703443
485 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA394060954
rs1252947705
485 E>K No ClinGen
TOPMed
rs752703443
CA276497515
485 E>V No ClinGen
ExAC
TOPMed
gnomAD
CA394060984
rs1314905461
486 T>A No ClinGen
gnomAD
rs201830948
CA7773580
487 F>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA276497542
rs374072214
488 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7773581
rs374072214
488 S>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs746934284
CA7773582
489 K>M No ClinGen
ExAC
TOPMed
gnomAD
rs746934284
CA7773583
489 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA276497555
rs1022432757
492 D>H No ClinGen
TOPMed
rs768913981
CA394061099
493 N>D No ClinGen
ExAC
TOPMed
rs768913981
CA7773587
493 N>H No ClinGen
ExAC
TOPMed
CA276497562
rs866724530
494 G>E No ClinGen
Ensembl
rs200635785
CA7773590
494 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA394061119
rs200635785
494 G>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1441909022
CA394061132
495 G>C No ClinGen
TOPMed
gnomAD
CA394061134
rs1405391445
495 G>D No ClinGen
TOPMed
rs1441909022
CA394061129
495 G>R No ClinGen
TOPMed
gnomAD
rs1405391445
CA394061138
495 G>V No ClinGen
TOPMed
rs199589252
CA7773593
COSM1220063
496 V>M large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs766759491
CA7773597
498 P>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1422998220
CA394061173
498 P>S No ClinGen
gnomAD
rs370277985
CA394061182
499 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA276497606
rs373732401
499 T>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7773601
rs373732401
499 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7773599
rs370277985
499 T>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370277985
CA7773600
499 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1370747260
CA394061192
500 E>K No ClinGen
TOPMed
rs752407010
CA7773603
501 E>* No ClinGen
ExAC
gnomAD
rs757923964
CA7773604
501 E>A No ClinGen
ExAC
gnomAD
rs752407010
CA394061208
501 E>K No ClinGen
ExAC
gnomAD
CA7773605
VAR_048093
rs1048786
502 P>S No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA394061223
rs1048786
502 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7773606
rs746052617
503 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA276497639
rs746052617
503 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1436709144
CA394061235
503 P>T No ClinGen
TOPMed
CA394061272
rs1055946099
505 E>A No ClinGen
TOPMed
gnomAD
rs745610054
CA394061274
505 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1055946099
CA276497682
505 E>G No ClinGen
TOPMed
gnomAD
CA7773608
rs531336265
505 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA7773610
rs375497846
506 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7773611
rs774485883
508 A>V No ClinGen
ExAC
gnomAD
rs762035501
CA7773612
509 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA394061318
rs1179594893
509 P>S No ClinGen
gnomAD
CA394061314
rs1179594893
509 P>T No ClinGen
gnomAD
CA394061340
rs1193086412
510 F>L No ClinGen
TOPMed
CA7773614
rs201429930
511 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA394061344
rs1165214211
511 P>T No ClinGen
gnomAD
rs199996785
CA7773644
512 E>A No ClinGen
1000Genomes
ExAC
gnomAD
CA394062005
rs756651561
512 E>D No ClinGen
ExAC
gnomAD
CA394062009
rs1478177137
513 P>A No ClinGen
gnomAD
CA276499368
rs1055874189
513 P>L No ClinGen
TOPMed
gnomAD
rs201336797
CA7773646
514 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201336797
CA394062027
514 P>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201336797
CA394062029
514 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs888298216
CA276499411
515 A>G No ClinGen
Ensembl
rs373626079
CA276499401
515 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373626079
COSM471693
CA7773649
515 A>T kidney [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1399961715
CA394062060
516 N>S No ClinGen
gnomAD
rs754835754
CA7773651
518 T>I No ClinGen
ExAC
gnomAD
rs777791865
CA7773652
519 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA394062097
rs777791865
519 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA7773653
rs747269171
520 G>R No ClinGen
ExAC
gnomAD
CA276499466
rs999600496
522 K>E No ClinGen
TOPMed
CA7773658
rs770475643
523 E>* No ClinGen
ExAC
gnomAD
CA7773657
rs770475643
523 E>K No ClinGen
ExAC
gnomAD
rs1488760378
CA394062186
524 E>K No ClinGen
gnomAD
CA394062202
rs763185526
525 L>M No ClinGen
ExAC
gnomAD
CA7773663
rs773813488
526 L>L No ClinGen
ExAC
TOPMed
gnomAD
CA7773664
rs761584267
526 L>Y No ClinGen
ExAC
TOPMed
gnomAD

No associated diseases with Q13087

4 regional properties for Q13087

Type Name Position InterPro Accession
domain Thioredoxin domain 27 - 152 IPR013766-1
domain Thioredoxin domain 367 - 496 IPR013766-2
conserved_site Thioredoxin, conserved site 63 - 81 IPR017937-1
conserved_site Thioredoxin, conserved site 410 - 428 IPR017937-2

Functions

Description
EC Number 5.3.4.1 Transposing S-S bonds
Subcellular Localization
  • Endoplasmic reticulum lumen
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
endoplasmic reticulum The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum lumen The volume enclosed by the membranes of the endoplasmic reticulum.

4 GO annotations of molecular function

Name Definition
disulfide oxidoreductase activity Catalysis of the reaction: substrate with reduced sulfide groups = substrate with oxidized disulfide bonds.
protein disulfide isomerase activity Catalysis of the rearrangement of both intrachain and interchain disulfide bonds in proteins.
protein-disulfide reductase activity Catalysis of the reaction: a protein with reduced sulfide groups = a protein with oxidized disulfide bonds.
steroid binding Binding to a steroid, any of a large group of substances that have in common a ring system based on 1,2-cyclopentanoperhydrophenanthrene.

4 GO annotations of biological process

Name Definition
protein folding The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure.
protein folding in endoplasmic reticulum A protein folding process that takes place in the endoplasmic reticulum (ER). Secreted, plasma membrane and organelle proteins are folded in the ER, assisted by chaperones and foldases (protein disulphide isomerases), and additional factors required for optimal folding (ATP, Ca2+ and an oxidizing environment to allow disulfide bond formation).
protein retention in ER lumen The retention in the endoplasmic reticulum (ER) lumen of soluble resident proteins. Sorting receptors retrieve proteins with ER localization signals, such as KDEL and HDEL sequences or some transmembrane domains, that have escaped to the cis-Golgi network and return them to the ER. Abnormally folded proteins and unassembled subunits are also selectively retained in the ER.
response to endoplasmic reticulum stress Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stress acting at the endoplasmic reticulum. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen.

6 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q29RV1 PDIA4 Protein disulfide-isomerase A4 Bos taurus (Bovine) PR
Q8N807 PDILT Protein disulfide-isomerase-like protein of the testis Homo sapiens (Human) PR
Q5WA72 PDIL1-5 Protein disulfide isomerase-like 1-5 Oryza sativa subsp japonica (Rice) PR
Q17770 pdi-2 Protein disulfide-isomerase 2 Caenorhabditis elegans PR
Q66GQ3 PDIL1-6 Protein disulfide isomerase-like 1-6 Arabidopsis thaliana (Mouse-ear cress) PR
A3KPF5 PDIL1-5 Protein disulfide isomerase-like 1-5 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MSRQLLPVLL LLLLRASCPW GQEQGARSPS EEPPEEEIPK EDGILVLSRH TLGLALREHP
70 80 90 100 110 120
ALLVEFYAPW CGHCQALAPE YSKAAAVLAA ESMVVTLAKV DGPAQRELAE EFGVTEYPTL
130 140 150 160 170 180
KFFRNGNRTH PEEYTGPRDA EGIAEWLRRR VGPSAMRLED EAAAQALIGG RDLVVIGFFQ
190 200 210 220 230 240
DLQDEDVATF LALAQDALDM TFGLTDRPRL FQQFGLTKDT VVLFKKFDEG RADFPVDEEL
250 260 270 280 290 300
GLDLGDLSRF LVTHSMRLVT EFNSQTSAKI FAARILNHLL LFVNQTLAAH RELLAGFGEA
310 320 330 340 350 360
APRFRGQVLF VVVDVAADNE HVLQYFGLKA EAAPTLRLVN LETTKKYAPV DGGPVTAASI
370 380 390 400 410 420
TAFCHAVLNG QVKPYLLSQE IPPDWDQRPV KTLVGKNFEQ VAFDETKNVF VKFYAPWCTH
430 440 450 460 470 480
CKEMAPAWEA LAEKYQDHED IIIAELDATA NELDAFAVHG FPTLKYFPAG PGRKVIEYKS
490 500 510 520
TRDLETFSKF LDNGGVLPTE EPPEEPAAPF PEPPANSTMG SKEEL