Q9BRC7
SS
Gene name |
PLCD4 |
Protein name |
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 |
Names |
hPLCD4, Phosphoinositide phospholipase C-delta-4, Phospholipase C-delta-4, PLC-delta-4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:84812 |
EC number |
3.1.4.11: Phosphoric diester hydrolases |
Protein Class |
|
Descriptions
PLCD4 hydrolyzes the phosphatidylinositol 4,5-bisphosphate (PIP2) to generate 2 second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). Autoinhibitory region is a portion of the linker that separates the conserved X and Y boxes comprising the catalytic TIM barrel, at residues 436-492. The active site of a PLC isozyme toward phospholipid membranes should force the negatively charged X/Y linker away from the active site, therein relieving autoinhibition of the enzyme.
Autoinhibitory domains (AIDs)
Target domain |
290-609 (TIM barrel) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
References
- Hicks SN et al. (2008) "General and versatile autoinhibition of PLC isozymes", Molecular cell, 31, 383-94
- Muralidharan K et al. (2021) "Structure and regulation of phospholipase Cβ and ε at the membrane", Chemistry and physics of lipids, 235, 105050
- Rugema NY et al. (2020) "Structure of phospholipase Cε reveals an integrated RA1 domain and previously unidentified regulatory elements", Communications biology, 3, 445
- Charpentier TH et al. (2014) "Membrane-induced allosteric control of phospholipase C-β isozymes", The Journal of biological chemistry, 289, 29545-57
- Lyon AM et al. (2011) "An autoinhibitory helix in the C-terminal region of phospholipase C-β mediates Gαq activation", Nature structural & molecular biology, 18, 999-1005
Autoinhibited structure
Activated structure
1 structures for Q9BRC7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BRC7-F1 | Predicted | AlphaFoldDB |
566 variants for Q9BRC7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs761632351 COSM1016389 CA2107815 |
2 | A>V | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs755839014 CA2107818 |
3 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1446760953 CA350577328 |
4 | L>P | No |
ClinGen TOPMed |
|
|
CA350577345 rs1190526437 |
5 | L>R | No |
ClinGen gnomAD |
|
|
rs1265137456 CA350577379 |
8 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA350577471 rs1298030267 |
12 | D>N | No |
ClinGen gnomAD |
|
|
rs1309189874 CA350577483 |
12 | D>V | No |
ClinGen TOPMed |
|
|
rs773100103 CA2107834 |
13 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760420047 CA2107835 |
18 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1345666442 CA350577620 |
21 | G>V | No |
ClinGen TOPMed |
|
|
CA2107837 rs753504727 |
24 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2107838 rs754421054 |
24 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2107839 rs186920731 |
25 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2107840 rs199916071 |
25 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350577699 rs1222190835 |
28 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA350577701 rs1222190835 |
28 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
CA65799769 rs369550268 |
28 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350577707 rs1575015608 |
29 | S>A | No |
ClinGen Ensembl |
|
|
CA2107842 rs778170643 |
29 | S>F | No |
ClinGen ExAC |
|
|
CA65799775 rs778244367 |
31 | S>G | No |
ClinGen Ensembl |
|
|
CA2107844 rs200062411 |
40 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200062411 CA65799781 |
40 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350577849 rs368808205 |
41 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350577848 rs368808205 |
41 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2107845 rs368808205 |
41 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377739668 CA2107847 |
44 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs987310496 CA65799802 |
45 | M>L | No |
ClinGen Ensembl |
|
|
CA2107848 rs370003707 |
46 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs748003629 CA2107849 |
47 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1424946764 CA350577910 |
47 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA350577908 rs1424946764 |
47 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1485306317 CA350577926 |
49 | H>D | No |
ClinGen gnomAD |
|
|
CA2107853 rs760462051 |
51 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2107852 rs760462051 |
51 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2107851 rs373362301 |
51 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377389222 CA2107854 |
53 | A>T | No |
ClinGen ESP ExAC TOPMed |
|
|
CA350577986 rs1263164977 |
55 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2107856 rs759246914 |
56 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA350578006 rs1447060648 |
57 | A>V | No |
ClinGen gnomAD |
|
|
rs764708847 CA2107857 |
59 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350578660 rs1459518306 |
61 | F>S | No |
ClinGen gnomAD |
|
|
CA2107876 rs759161687 |
62 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs375861093 CA2107877 |
63 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs916304228 CA65801119 |
65 | D>N | No |
ClinGen TOPMed |
|
|
CA65801125 rs904819009 |
66 | V>M | No |
ClinGen gnomAD |
|
|
rs1465293631 CA350578725 |
68 | T>I | No |
ClinGen gnomAD |
|
|
CA2107879 rs762454603 |
70 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs547899357 CA2107880 |
70 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA350578751 rs1229412333 |
71 | N>H | No |
ClinGen TOPMed |
|
|
rs752091400 CA2107881 |
71 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA2107882 rs762458051 |
72 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350578766 rs762458051 |
72 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2107883 rs370203706 |
73 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1575019505 CA350578770 |
73 | H>Y | No |
ClinGen Ensembl |
|
|
CA65801132 rs866818060 |
75 | S>F | No |
ClinGen Ensembl |
|
|
rs202204701 CA2107885 |
77 | L>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2107887 rs747172541 |
79 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2107889 rs755082482 |
79 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs747172541 CA350578826 |
79 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350578856 rs1319429692 |
80 | S>R | No |
ClinGen gnomAD |
|
|
CA350578878 rs1323226238 |
82 | A>E | No |
ClinGen TOPMed |
|
|
CA350578912 rs1195821610 |
84 | E>G | No |
ClinGen gnomAD |
|
|
rs778920852 CA2107891 |
85 | L>R | No |
ClinGen ExAC |
|
|
rs1450321997 CA350578945 |
87 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA350578949 rs1224326531 |
87 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2107894 rs781143238 |
90 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1425998496 CA350579019 |
92 | T>A | No |
ClinGen gnomAD |
|
|
rs1425998496 CA350579016 |
92 | T>P | No |
ClinGen gnomAD |
|
|
rs745599881 CA2107895 |
92 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs769577480 CA2107897 |
93 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA2107898 rs748949666 |
93 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748949666 CA65801199 |
93 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2107896 rs769577480 |
93 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1463885232 CA350579040 |
94 | V>F | No |
ClinGen TOPMed |
|
|
CA65801207 rs979674650 |
97 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2107900 rs201896370 |
98 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2107901 rs761438839 |
98 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA350579106 rs761438839 |
98 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA2107902 rs781374480 |
99 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3838598 CA65801220 rs998141297 |
99 | R>H | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA350579112 rs998141297 |
99 | R>L | No |
ClinGen Ensembl |
|
|
CA350579107 rs781374480 |
99 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2107903 rs773870176 |
100 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA2107905 rs766722297 |
103 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754080207 CA2107906 |
104 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1197745259 CA350579194 |
106 | A>T | No |
ClinGen TOPMed |
|
|
CA2107908 rs765332845 |
106 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367648245 CA65801244 |
107 | N>K | No |
ClinGen ESP TOPMed |
|
|
rs1214834330 CA350579249 |
110 | E>K | No |
ClinGen gnomAD |
|
|
CA350579261 rs1265622858 |
111 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs781037126 CA2107911 |
112 | A>G | No |
ClinGen ExAC TOPMed |
|
|
rs758482025 CA2107910 |
112 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs781037126 CA350579285 |
112 | A>V | No |
ClinGen ExAC TOPMed |
|
|
CA350579316 rs1187008120 |
114 | I>M | No |
ClinGen gnomAD |
|
|
rs1366776503 CA350579346 |
116 | M>I | No |
ClinGen gnomAD |
|
|
CA2107913 rs146112514 |
117 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374563424 CA2107915 |
117 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2107914 rs374563424 |
117 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748938443 CA2107916 |
118 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1332983264 CA350579468 |
125 | L>R | No |
ClinGen gnomAD |
|
|
rs773853595 CA2107921 |
126 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2107922 rs201000291 |
129 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1485949514 CA350579515 |
129 | M>V | No |
ClinGen gnomAD |
|
|
CA2107923 rs766747130 |
131 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2107924 rs776903135 |
134 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2107926 rs200972923 |
134 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2107925 rs200972923 |
134 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350579641 rs1237290739 |
136 | D>G | No |
ClinGen gnomAD |
|
|
CA2107928 rs200863393 |
136 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1436224949 CA350579659 |
137 | Q>* | No |
ClinGen TOPMed |
|
|
rs981096189 CA65801296 |
137 | Q>R | No |
ClinGen gnomAD |
|
|
rs1242783911 CA350561101 |
140 | S>G | No |
ClinGen TOPMed |
|
|
CA2107944 rs200222852 |
141 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350561152 rs1575023128 |
142 | W>* | No |
ClinGen Ensembl |
|
|
rs545914229 CA2107946 |
145 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA65774844 rs906859909 |
145 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs938394736 CA65774847 |
146 | G>E | No |
ClinGen gnomAD |
|
|
CA350561259 rs1386570548 |
149 | N>H | No |
ClinGen gnomAD |
|
|
rs763205099 CA2107949 |
151 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA65774863 rs868795724 |
152 | G>S | No |
ClinGen Ensembl |
|
|
rs1317036747 CA350561331 |
152 | G>V | No |
ClinGen TOPMed |
|
|
CA350561341 rs1224331388 |
153 | K>R | No |
ClinGen gnomAD |
|
|
CA350561430 rs1200548761 |
156 | F>L | No |
ClinGen gnomAD |
|
|
CA2107951 rs374046683 |
157 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA65774875 rs866284356 |
158 | E>K | No |
ClinGen Ensembl |
|
|
CA2107954 rs754714559 |
161 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs564116874 CA2107953 |
161 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2107956 rs752364295 |
163 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA2107957 rs758171195 |
164 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA350561683 rs1476563196 |
166 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1457833387 CA350561840 |
170 | M>I | No |
ClinGen gnomAD |
|
|
rs746459213 CA2107959 |
170 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA350561871 rs904039904 |
172 | Q>* | No |
ClinGen gnomAD |
|
|
CA65774908 rs904039904 |
172 | Q>K | No |
ClinGen gnomAD |
|
|
CA350561878 rs1367813098 |
172 | Q>R | No |
ClinGen gnomAD |
|
|
rs770475168 CA2107960 |
174 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA65775537 rs940052561 |
181 | A>E | No |
ClinGen Ensembl |
|
|
rs758296014 CA2107974 |
184 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA65775541 rs895930322 |
186 | Q>* | No |
ClinGen TOPMed |
|
|
CA350562011 rs1559268374 |
189 | T>A | No |
ClinGen Ensembl |
|
|
rs751288141 CA2107978 |
192 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350562034 rs200241287 |
193 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2107979 rs200241287 |
193 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA350562043 COSM1177243 rs1378579785 |
194 | E>* | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA2107980 rs192109685 |
194 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA350562041 COSM1016401 rs1378579785 |
194 | E>K | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1177876367 CA350562048 |
195 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs199742356 CA65775557 |
195 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2107983 rs370534984 |
196 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2107982 rs370534984 |
196 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350562087 rs1246527523 |
200 | K>R | No |
ClinGen gnomAD |
|
|
rs377081585 CA2107986 |
202 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1197105859 CA350562103 |
203 | T>P | No |
ClinGen TOPMed |
|
|
CA2107987 rs748468529 |
205 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs894233666 CA65775611 |
205 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1403901124 CA350562121 |
206 | A>T | No |
ClinGen gnomAD |
|
|
rs1575024744 CA350562131 |
207 | E>G | No |
ClinGen Ensembl |
|
|
CA2107988 rs772013540 |
208 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2107989 rs773388785 |
209 | Q>K | No |
ClinGen ExAC |
|
|
rs1336790665 CA350562149 |
210 | E>* | No |
ClinGen Ensembl |
|
|
CA2107990 rs370200930 |
211 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA65775629 rs1021425054 |
214 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA65775631 rs967158997 |
216 | S>L | No |
ClinGen TOPMed |
|
|
CA2107991 rs765223141 |
217 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1464617142 CA350562276 |
218 | D>G | No |
ClinGen gnomAD |
|
|
rs999201172 CA350562311 |
220 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA65775634 rs999201172 |
220 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1331012160 CA350562477 |
226 | E>Q | No |
ClinGen TOPMed |
|
|
CA350562639 rs1393209996 |
232 | Q>P | No |
ClinGen TOPMed |
|
|
CA350562694 rs1330864860 |
234 | E>* | No |
ClinGen TOPMed |
|
|
CA350562831 rs1407974596 |
238 | R>G | No |
ClinGen TOPMed |
|
|
rs965793023 CA65775678 |
238 | R>K | No |
ClinGen TOPMed |
|
|
rs756985932 CA2107997 |
239 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs767101387 CA2107998 |
242 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA65775704 rs770827588 |
243 | E>K | No |
ClinGen Ensembl |
|
|
rs1236837099 CA350562975 |
245 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1236837099 CA350562971 |
245 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs755626119 CA2108000 |
246 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2108001 rs567172551 |
249 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2108002 rs368540513 |
251 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs184719765 CA2108003 |
251 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs184719765 CA350563061 |
251 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1462065511 CA350563074 |
252 | Y>C | No |
ClinGen TOPMed |
|
|
rs557264804 CA2108006 |
257 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753062524 CA2108022 |
261 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs779307931 COSM1262368 CA2108021 |
261 | R>W | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1215637192 CA350564773 |
262 | H>P | No |
ClinGen gnomAD |
|
|
rs1318517728 CA350564805 |
263 | V>M | No |
ClinGen TOPMed |
|
|
rs959616226 CA65778924 |
265 | S>N | No |
ClinGen gnomAD |
|
|
rs1489967752 CA350564929 |
267 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA350564933 rs1489967752 |
267 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2108023 rs371248197 |
270 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771107451 CA2108027 |
275 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs771107451 CA350565119 |
275 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA2108026 rs747288572 |
275 | S>P | No |
ClinGen ExAC TOPMed |
|
|
rs781474886 CA2108028 |
277 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs781474886 CA350565157 |
277 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs369761244 CA2108029 |
279 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1450426982 CA350565230 |
280 | I>T | No |
ClinGen TOPMed |
|
|
CA2108030 rs200161654 |
281 | F>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350565257 rs1165239071 |
282 | N>D | No |
ClinGen gnomAD |
|
|
CA350565261 rs1575031249 |
282 | N>T | No |
ClinGen Ensembl |
|
|
rs774161107 CA2108031 |
283 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA350565301 rs1575031254 |
283 | P>L | No |
ClinGen Ensembl |
|
|
CA2108032 rs570540098 |
284 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA65778964 rs989279381 |
284 | A>T | No |
ClinGen TOPMed |
|
|
CA350565340 rs1430758064 |
285 | C>F | No |
ClinGen gnomAD |
|
|
rs1327716394 CA350565333 |
285 | C>R | No |
ClinGen gnomAD |
|
|
rs1464831444 CA350565359 |
286 | L>F | No |
ClinGen TOPMed |
|
|
CA350565391 rs1284139148 |
287 | P>R | No |
ClinGen gnomAD |
|
|
rs755701675 CA2108024 |
288 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA350565415 rs1357840015 |
288 | I>T | No |
ClinGen gnomAD |
|
|
CA350565440 rs1248711289 |
289 | Y>F | No |
ClinGen gnomAD |
|
|
CA350565483 rs1353317197 |
291 | D>A | No |
ClinGen gnomAD |
|
|
CA2108034 rs534863670 |
291 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs373371811 CA65778998 |
292 | M>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA350565533 rs1286556302 |
293 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs765851562 CA2108036 |
295 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350565630 rs1442690529 |
298 | H>Q | No |
ClinGen gnomAD |
|
|
rs1344096865 CA350565639 |
299 | Y>H | No |
ClinGen TOPMed |
|
|
rs1295129163 CA350565679 |
300 | F>L | No |
ClinGen TOPMed |
|
|
rs759075590 CA2108038 |
301 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs759075590 CA2108039 |
301 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1385600358 CA350565750 |
304 | S>F | No |
ClinGen gnomAD |
|
|
CA350565759 rs1359819288 |
305 | H>Y | No |
ClinGen gnomAD |
|
|
rs568106701 CA65779024 |
306 | N>K | No |
ClinGen 1000Genomes |
|
|
CA350565782 rs1452736754 |
306 | N>Y | No |
ClinGen gnomAD |
|
|
CA350565808 rs1559272255 |
307 | T>S | No |
ClinGen Ensembl |
|
|
rs1216205203 CA350565801 |
307 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs753153870 CA2108040 |
310 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350565858 rs1400787134 |
311 | G>A | No |
ClinGen gnomAD |
|
|
rs778042236 CA2108042 |
312 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1455027970 CA350565924 |
316 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA2108044 rs757508389 |
317 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2108045 rs781599575 |
317 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs745877317 CA350565967 |
319 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769778821 CA2108047 |
320 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2108050 rs771868964 |
321 | E>* | No |
ClinGen ExAC |
|
|
CA65779095 rs771868964 |
321 | E>K | No |
ClinGen ExAC |
|
|
CA65779105 rs986704043 |
322 | G>V | No |
ClinGen Ensembl |
|
|
CA2108051 rs773039416 |
323 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA2108053 rs202210980 |
325 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2108052 rs61733653 |
325 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776249194 CA2108073 |
329 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2108072 rs770723560 |
329 | R>W | No |
ClinGen ExAC TOPMed |
|
|
CA2108074 rs200258640 |
332 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350567138 rs200258640 |
332 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1565080 rs561847468 CA2108075 |
332 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA350567136 rs200258640 |
332 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2108076 rs774818151 |
333 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350567184 rs1252959665 |
334 | V>M | No |
ClinGen gnomAD |
|
|
rs778073037 CA65780062 |
335 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA2108078 rs764632282 |
335 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1575033077 CA350567247 |
336 | V>G | No |
ClinGen Ensembl |
|
|
rs1483556779 CA350567263 |
338 | V>I | No |
ClinGen TOPMed |
|
|
CA350567279 rs1316847775 |
339 | W>* | No |
ClinGen gnomAD |
|
|
rs201349346 CA2108079 |
339 | W>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1257736687 CA350567290 |
340 | D>N | No |
ClinGen TOPMed |
|
|
rs762257541 CA2108080 |
341 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs550691262 CA350567335 COSM210023 |
343 | S>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA2108082 rs376054195 |
344 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350567352 rs1260394504 |
345 | E>A | No |
ClinGen gnomAD |
|
|
rs369159528 CA2108083 |
346 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs368373841 CA2108085 |
348 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA65780102 rs368373841 |
348 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2108086 rs755088528 |
349 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1162050969 CA350567416 |
350 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1339319283 CA350567431 |
351 | G>R | No |
ClinGen TOPMed |
|
|
rs183632737 CA65780109 |
353 | T>I | No |
ClinGen 1000Genomes |
|
|
CA350567480 rs1288401075 |
355 | T>I | No |
ClinGen gnomAD |
|
|
rs1575033181 CA350567472 |
355 | T>P | No |
ClinGen Ensembl |
|
|
CA2108088 rs747004820 |
357 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA350567498 rs1383944758 |
357 | R>H | No |
ClinGen gnomAD |
|
|
CA350567548 rs1245050357 |
361 | K>N | No |
ClinGen gnomAD |
|
|
rs757038243 CA2108089 |
361 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2108091 rs745700975 |
362 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs781002146 CA2108090 |
362 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs566366452 CA2108093 |
364 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2108095 rs768341557 |
368 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs912844213 CA65780156 |
373 | Q>H | No |
ClinGen Ensembl |
|
|
rs779561560 CA2108112 |
374 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1405481374 CA350567819 |
374 | T>S | No |
ClinGen gnomAD |
|
|
rs749038624 CA2108113 |
376 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA2108114 rs201051996 |
377 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1178922921 CA350567956 |
378 | P>R | No |
ClinGen TOPMed |
|
|
CA2108116 rs747682452 |
380 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA350568081 rs1370787998 |
382 | S>A | No |
ClinGen gnomAD |
|
|
CA350568205 rs1288540725 |
386 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA2108117 rs114589487 |
387 | C>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1405303378 CA350568288 |
388 | S>R | No |
ClinGen gnomAD |
|
|
CA350568325 rs1450301788 |
390 | E>Q | No |
ClinGen gnomAD |
|
|
rs773772871 CA2108119 |
392 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA350568395 rs1443492558 |
392 | Q>R | No |
ClinGen gnomAD |
|
|
CA2108121 rs771382421 |
395 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs200331219 CA2108122 |
396 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759790901 CA2108123 |
397 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs759790901 CA2108124 |
397 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs375412858 CA2108125 |
397 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2108126 rs200099965 |
398 | H>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2108129 rs755857870 |
400 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1169530256 CA350568626 |
401 | E>A | No |
ClinGen gnomAD |
|
|
CA2108132 rs754629149 |
403 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA350568714 rs1264448684 |
405 | E>V | No |
ClinGen TOPMed |
|
|
rs1402631532 CA350568773 |
408 | L>V | No |
ClinGen gnomAD |
|
|
rs1165848672 CA350568801 |
409 | S>T | No |
ClinGen Ensembl |
|
|
CA2108135 rs771720547 |
410 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1346376703 CA350568818 |
410 | T>N | No |
ClinGen gnomAD |
|
|
rs527387925 CA2108136 |
411 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350568864 rs1392382604 |
413 | D>H | No |
ClinGen TOPMed |
|
|
rs1575034446 CA350568892 |
415 | V>G | No |
ClinGen Ensembl |
|
|
rs940357845 CA65781313 |
415 | V>M | No |
ClinGen TOPMed |
|
|
CA2108139 rs771167345 |
417 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs747614132 CA2108138 |
417 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs777100127 CA2108140 |
418 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA350568927 rs1489917885 |
419 | Q>* | No |
ClinGen gnomAD |
|
|
rs369547331 CA2108141 |
420 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775706797 CA2108143 |
422 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350568956 rs775706797 |
422 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs554285261 CA65782343 |
425 | E>K | No |
ClinGen Ensembl |
|
|
rs747449270 CA2108155 |
427 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2108154 rs777377907 |
427 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1338147916 CA350569463 |
429 | K>N | No |
ClinGen TOPMed |
|
|
CA350569477 rs1181466750 |
430 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA350569475 rs1181466750 |
430 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs369205250 CA2108156 |
431 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1390923067 CA350569490 |
431 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA2108157 rs781669392 |
433 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2108158 rs746175607 |
439 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs373285847 CA65782398 |
441 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1373151149 CA350569649 |
442 | D>N | No |
ClinGen TOPMed |
|
|
rs1373151149 CA350569655 |
442 | D>Y | No |
ClinGen TOPMed |
|
|
CA350569704 rs1476604120 |
444 | E>Q | No |
ClinGen TOPMed |
|
|
rs1575037311 CA350569740 |
445 | Y>C | No |
ClinGen Ensembl |
|
|
rs1421961484 CA350569754 |
446 | E>K | No |
ClinGen TOPMed |
|
|
rs1193345730 CA350569839 |
448 | E>G | No |
ClinGen TOPMed |
|
|
CA65782416 rs997735650 |
450 | A>G | No |
ClinGen gnomAD |
|
|
rs1350223781 CA350569901 |
451 | E>D | No |
ClinGen gnomAD |
|
|
CA2108163 rs774442158 |
452 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA2108164 rs761831959 |
453 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559275969 CA350569979 |
455 | E>G | No |
ClinGen Ensembl |
|
|
CA2108165 rs766271181 |
455 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA65782435 rs953385606 |
457 | S>* | No |
ClinGen gnomAD |
|
|
rs776721135 CA2108167 |
460 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1467749248 CA350570103 |
461 | L>P | No |
ClinGen gnomAD |
|
|
rs765186512 CA2108169 |
462 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469291192 CA350570110 |
462 | E>V | No |
ClinGen gnomAD |
|
|
CA350570149 rs539268095 |
465 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs539268095 CA65782479 |
465 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs539268095 CA350570146 |
465 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA2108171 rs145392690 |
466 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA65782491 rs145392690 |
466 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs375099092 CA65782501 |
466 | E>V | No |
ClinGen Ensembl |
|
|
CA350570183 rs1336661509 |
468 | E>A | No |
ClinGen gnomAD |
|
|
CA350570198 rs1335259382 |
469 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2108173 rs763673642 |
469 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA2108174 rs751017429 |
471 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751017429 CA350570214 |
471 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281441639 CA350570267 |
474 | Q>H | No |
ClinGen gnomAD |
|
|
rs189779659 CA2108176 |
475 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746443532 CA2108177 |
476 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1262507453 CA350570331 |
479 | K>R | No |
ClinGen gnomAD |
|
|
rs377687249 CA2108178 |
480 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757471919 CA350571872 |
485 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757471919 CA2108223 |
485 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350571936 rs774426597 |
488 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1160575183 CA350571932 |
488 | I>T | No |
ClinGen TOPMed |
|
|
rs780039919 CA2108224 |
489 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA350572017 rs1188506847 |
491 | P>L | No |
ClinGen TOPMed |
|
|
rs1326480866 CA350572112 |
496 | L>P | No |
ClinGen gnomAD |
|
|
rs773968756 CA2108227 |
497 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773968756 CA65783551 |
497 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350572145 rs1269391636 |
498 | I>V | No |
ClinGen gnomAD |
|
|
CA2108229 rs569543339 |
499 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA350572240 rs1210099915 |
502 | S>A | No |
ClinGen TOPMed |
|
|
CA350572262 rs1268907530 |
503 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1176861271 CA350572286 |
505 | F>I | No |
ClinGen gnomAD |
|
|
CA350572305 rs1248615667 |
505 | F>S | No |
ClinGen gnomAD |
|
|
CA2108230 rs199581087 |
506 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368342612 CA2108231 |
506 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1349314460 CA350572332 |
507 | S>G | No |
ClinGen TOPMed |
|
|
CA2108232 rs765938168 |
510 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs370612736 CA2108233 |
516 | H>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs370612736 CA2108234 |
516 | H>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs374723132 CA2108236 |
518 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350572688 rs1448414828 |
519 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs200474131 CA2108237 |
519 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2108238 rs764401261 |
520 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350572707 rs1288402683 |
521 | S>L | No |
ClinGen gnomAD |
|
|
COSM78314 rs751900322 CA2108239 |
521 | S>P | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2108240 rs760250710 |
522 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350572719 rs745982556 |
523 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA2108242 rs745982556 |
523 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1313166216 CA350572733 |
524 | S>F | No |
ClinGen gnomAD |
|
|
rs1559277410 CA350572805 |
527 | K>N | No |
ClinGen Ensembl |
|
|
CA350572855 rs1272826679 |
530 | R>C | No |
ClinGen gnomAD |
|
|
rs371174811 CA2108243 |
530 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350572915 rs1183039656 |
532 | I>T | No |
ClinGen gnomAD |
|
|
rs778915434 CA2108244 |
535 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2108274 rs776112869 |
539 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA350573204 rs1284949733 |
540 | V>L | No |
ClinGen gnomAD |
|
|
rs1350060613 CA350573229 |
541 | Q>* | No |
ClinGen gnomAD |
|
|
rs370671617 CA65783965 |
543 | N>D | No |
ClinGen gnomAD |
|
|
CA2108276 rs769313876 |
544 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs774816594 CA2108277 |
545 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA65783976 rs774816594 |
545 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762243867 CA2108278 |
546 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350573405 rs1440435555 |
547 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2108279 rs529917751 |
549 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2108280 rs548113968 COSM1405476 |
549 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA350573467 rs1472019247 |
550 | V>M | No |
ClinGen gnomAD |
|
|
rs183605922 CA350573572 |
553 | S>R | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs369726189 CA2108283 |
554 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350573584 rs369726189 |
554 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2108284 rs371822448 |
556 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA350573636 rs1458196847 |
556 | R>S | No |
ClinGen gnomAD |
|
|
rs1182781571 CA350573700 |
559 | S>A | No |
ClinGen gnomAD |
|
|
CA65784009 rs986440296 |
563 | N>D | No |
ClinGen TOPMed |
|
|
CA350573781 rs1400541028 |
564 | P>L | No |
ClinGen gnomAD |
|
|
rs1336111654 CA350573795 |
565 | Q>* | No |
ClinGen TOPMed |
|
|
CA2108286 rs758283017 |
566 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350573859 rs1335393260 |
568 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1335393260 CA350573861 |
568 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1408141251 CA350573880 |
569 | N>I | No |
ClinGen gnomAD |
|
|
rs1290255984 CA350573940 |
573 | Q>* | No |
ClinGen gnomAD |
|
|
CA350573948 rs1351137578 |
573 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA350573965 rs200688997 |
574 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2108288 rs200688997 |
574 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2108287 rs777715325 |
574 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1342621404 CA350573968 |
575 | V>L | No |
ClinGen gnomAD |
|
|
rs773273820 CA2108299 |
576 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA2108300 rs761005731 |
577 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766609539 CA2108301 |
579 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs753874393 CA2108302 |
580 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA350574120 rs1435404407 |
583 | G>E | No |
ClinGen gnomAD |
|
|
rs759613201 CA2108304 |
586 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA2108305 rs763958781 |
588 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447981679 CA350574207 |
590 | D>N | No |
ClinGen gnomAD |
|
|
rs376838439 CA2108306 |
594 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs555345253 CA2108307 |
594 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2108308 rs767397339 |
595 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1291834378 CA350574270 |
597 | G>D | No |
ClinGen gnomAD |
|
|
rs755755440 CA2108310 |
598 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350574290 rs1364212482 |
599 | C>G | No |
ClinGen gnomAD |
|
|
CA350574300 rs1225820512 |
599 | C>W | No |
ClinGen gnomAD |
|
|
rs1162346330 CA350574307 |
600 | G>D | No |
ClinGen TOPMed |
|
|
rs779857538 CA2108311 |
600 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs149628135 CA350574322 |
601 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149628135 CA2108313 |
601 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350574348 rs1559278241 |
603 | L>R | No |
ClinGen Ensembl |
|
|
rs1489147162 CA350574397 |
607 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs779560665 CA350574422 |
609 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779560665 CA2108315 |
609 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs543955232 CA2108316 |
609 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350574454 rs1190890335 |
611 | I>S | No |
ClinGen gnomAD |
|
|
rs772300110 CA2108317 |
612 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs773576685 CA2108318 |
614 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1162901802 CA350574496 |
614 | S>C | No |
ClinGen gnomAD |
|
|
CA65784230 rs982373162 |
617 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1362273795 CA350574526 |
618 | E>D | No |
ClinGen gnomAD |
|
|
CA2108323 rs765366489 |
618 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA65784254 rs375852416 |
620 | P>A | No |
ClinGen ESP TOPMed |
|
|
CA350574572 rs1305735483 |
622 | S>R | No |
ClinGen TOPMed |
|
|
CA2108324 rs774136192 |
622 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350574583 rs1310063593 |
623 | P>L | No |
ClinGen gnomAD |
|
|
rs1323002691 CA350574618 |
626 | A>T | No |
ClinGen gnomAD |
|
|
CA2108325 rs761762147 |
627 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA2108327 rs750166743 |
627 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767387550 CA2108326 |
627 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs755989985 CA2108328 |
628 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2108329 rs558899268 |
629 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350574682 rs1261178276 |
631 | I>F | No |
ClinGen gnomAD |
|
|
rs753614726 CA2108330 |
631 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2108331 rs754508585 |
632 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1417410213 CA350574791 |
634 | I>F | No |
ClinGen TOPMed |
|
|
CA350574802 rs776387005 |
635 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2108347 rs375491681 |
636 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2108348 rs753516597 |
637 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350574834 rs1349000427 |
640 | P>L | No |
ClinGen gnomAD |
|
|
CA2108349 rs759213183 |
640 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2108350 rs764825131 |
641 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1484115283 CA350574838 |
641 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA65785036 rs939598482 |
642 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs908071341 CA65785023 |
642 | V>L | No |
ClinGen Ensembl |
|
|
CA350574849 rs1233434629 |
643 | D>N | No |
ClinGen gnomAD |
|
|
CA350574859 rs1488097312 |
643 | D>V | No |
ClinGen gnomAD |
|
|
rs757859231 CA2108352 |
644 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs778328895 CA2108353 |
645 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139962795 CA350574908 |
646 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1559279250 CA350574915 |
647 | E>Q | No |
ClinGen Ensembl |
|
|
rs1431168619 CA350574956 |
648 | G>V | No |
ClinGen gnomAD |
|
|
CA350574997 rs1559279282 |
650 | I>M | No |
ClinGen Ensembl |
|
|
rs1299267430 CA350574990 |
650 | I>T | No |
ClinGen TOPMed |
|
|
CA350575017 rs1463947416 |
652 | D>N | No |
ClinGen TOPMed |
|
|
rs1303719273 CA350575047 |
653 | P>L | No |
ClinGen gnomAD |
|
|
CA2108358 rs746263594 COSM3838601 |
657 | V>A | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1168091059 CA350575140 |
657 | V>M | No |
ClinGen TOPMed |
|
|
CA350575192 rs1397189701 |
658 | Q>H | No |
ClinGen TOPMed |
|
|
CA2108360 rs780153804 |
658 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1295749346 CA350575183 |
658 | Q>P | No |
ClinGen gnomAD |
|
|
CA2108362 rs372277551 |
661 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145252562 CA350575266 |
662 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2108363 rs145252562 |
662 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773173607 CA2108364 |
663 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773336049 CA2108365 |
663 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA350575318 rs1468803817 |
664 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs759405490 CA2108368 |
667 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2108370 rs752350380 |
668 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2108369 rs200617193 |
668 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2108372 rs763551882 |
670 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA2108373 rs752036927 |
671 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1318917046 CA350575636 |
675 | E>Q | No |
ClinGen gnomAD |
|
|
rs781667898 CA2108375 |
677 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199950867 CA2108376 |
677 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1293954280 CA350575981 |
683 | W>S | No |
ClinGen gnomAD |
|
|
CA2108392 rs773785828 |
686 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA65785451 rs376674227 |
687 | L>I | No |
ClinGen ESP TOPMed |
|
|
CA350576044 rs1462810429 |
687 | L>P | No |
ClinGen TOPMed |
|
|
CA2108394 rs767999714 |
688 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350576088 rs1205490148 |
689 | F>S | No |
ClinGen gnomAD |
|
|
rs369131130 COSM418869 CA2108396 |
690 | R>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA2108395 rs751000229 |
690 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1471943965 CA350576221 |
696 | L>P | No |
ClinGen gnomAD |
|
|
rs755113711 CA2108399 |
697 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA350576253 rs1366051044 |
698 | M>I | No |
ClinGen gnomAD |
|
|
rs574560418 CA2108400 |
700 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758604324 CA2108402 |
700 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs574560418 CA2108401 |
700 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350576286 rs1559279879 |
701 | F>S | No |
ClinGen Ensembl |
|
|
CA350576403 rs1313664390 |
707 | D>N | No |
ClinGen gnomAD |
|
|
CA350576430 rs1559279906 |
708 | W>* | No |
ClinGen Ensembl |
|
|
rs745832998 CA2108404 |
710 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2108405 rs769607592 |
711 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775096336 CA2108406 |
711 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2108407 rs749115363 |
713 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs768240905 CA350576734 |
719 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs768240905 CA2108408 |
719 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA2108409 rs774048917 |
725 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs535577393 CA65785534 |
726 | Q>* | No |
ClinGen 1000Genomes |
|
|
CA2108410 rs369625498 |
727 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1482478944 CA350576950 |
728 | G>R | No |
ClinGen gnomAD |
|
|
rs1575048066 CA350577074 |
729 | Y>S | No |
ClinGen Ensembl |
|
|
rs370527020 CA2108427 |
730 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771737211 CA2108428 |
730 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760233306 CA2108430 |
731 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs1373728355 CA350577133 |
732 | I>S | No |
ClinGen gnomAD |
|
|
CA65785643 rs995419126 |
733 | H>Q | No |
ClinGen Ensembl |
|
|
CA350577184 rs1162656352 |
738 | D>H | No |
ClinGen gnomAD |
|
|
rs1166228520 CA350577194 |
739 | G>D | No |
ClinGen TOPMed |
|
|
rs1448344524 CA350577220 |
741 | S>T | No |
ClinGen TOPMed |
|
|
rs202206034 CA2108432 |
743 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350577242 rs1442898555 |
743 | R>H | No |
ClinGen gnomAD |
|
|
rs1326301770 CA350577277 |
745 | A>D | No |
ClinGen gnomAD |
|
|
rs373959827 CA2108433 |
749 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350577446 rs1380193867 |
753 | I>M | No |
ClinGen gnomAD |
|
|
CA350577439 rs1479220666 |
753 | I>T | No |
ClinGen TOPMed |
|
|
CA350577430 rs1559280285 |
753 | I>V | No |
ClinGen Ensembl |
|
|
CA350577479 rs1245302181 |
754 | Q>H | No |
ClinGen TOPMed |
|
|
rs765735729 CA2108434 |
755 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs752944742 CA2108435 |
756 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA2108436 rs373053225 |
757 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438945571 CA350577551 |
758 | E>D | No |
ClinGen TOPMed |
|
|
CA2108437 rs376307888 |
758 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA350577567 rs1267918686 |
759 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs201417059 CA2108438 |
759 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757417571 CA2108439 |
760 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350577585 rs757417571 |
760 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q9BRC7
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.4.11 | Phosphoric diester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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 membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| G-protein alpha-subunit binding | Binding to a G-protein alpha subunit. The alpha subunit binds a guanine nucleotide. |
| guanyl-nucleotide exchange factor activity | Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions. |
| phosphatidylinositol phospholipase C activity | Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1,2-diacylglycerol + 1D-myo-inositol 1,4,5-trisphosphate + H(+). |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| acrosome reaction | The discharge, by sperm, of a single, anterior secretory granule following the sperm's attachment to the zona pellucida of the oocyte. The process begins with the fusion of the outer acrosomal membrane with the sperm plasma membrane and ends with the exocytosis of the acrosomal contents into the zona pellucida. |
| lipid catabolic process | The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. |
| phosphatidylinositol metabolic process | The chemical reactions and pathways involving phosphatidylinositol, any glycophospholipid in which a sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. |
| phosphatidylinositol-mediated signaling | The series of molecular signals in which a cell uses a phosphatidylinositol-mediated signaling to convert a signal into a response. Phosphatidylinositols include phosphatidylinositol (PtdIns) and its phosphorylated derivatives. |
| small GTPase mediated signal transduction | The series of molecular signals in which a small monomeric GTPase relays a signal. |
31 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P32383 | PLC1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q1RML2 | PLCZ1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 | Bos taurus (Bovine) | PR |
| P10895 | PLCD1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 | Bos taurus (Bovine) | SS |
| Q2VRL0 | PLCZ1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 | Gallus gallus (Chicken) | PR |
| Q15111 | PLCL1 | Inactive phospholipase C-like protein 1 | Homo sapiens (Human) | PR |
| Q9UPR0 | PLCL2 | Inactive phospholipase C-like protein 2 | Homo sapiens (Human) | PR |
| Q86YW0 | PLCZ1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 | Homo sapiens (Human) | PR |
| Q8N3E9 | PLCD3 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3 | Homo sapiens (Human) | SS |
| P16885 | PLCG2 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 | Homo sapiens (Human) | SS |
| P19174 | PLCG1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 | Homo sapiens (Human) | EV |
| Q00722 | PLCB2 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 | Homo sapiens (Human) | EV |
| Q01970 | PLCB3 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 | Homo sapiens (Human) | EV |
| Q9NQ66 | PLCB1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 | Homo sapiens (Human) | EV |
| Q9P212 | PLCE1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 | Homo sapiens (Human) | SS |
| P51178 | PLCD1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 | Homo sapiens (Human) | EV |
| Q15147 | PLCB4 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 | Homo sapiens (Human) | PR |
| Q8R3B1 | Plcd1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 | Mus musculus (Mouse) | SS |
| Q8K394 | Plcl2 | Inactive phospholipase C-like protein 2 | Mus musculus (Mouse) | PR |
| Q8K2J0 | Plcd3 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3 | Mus musculus (Mouse) | PR |
| Q8K4S1 | Plce1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 | Mus musculus (Mouse) | SS |
| Q7YRU3 | PLCZ | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 | Sus scrofa (Pig) | PR |
| P10688 | Plcd1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 | Rattus norvegicus (Rat) | SS |
| Q99P84 | Plce1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 | Rattus norvegicus (Rat) | EV |
| Q8GV43 | PLC6 | Phosphoinositide phospholipase C 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q944C2 | PLC5 | Phosphoinositide phospholipase C 5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q6NMA7 | PLC9 | Phosphoinositide phospholipase C 9 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9STZ3 | PLC8 | Phosphoinositide phospholipase C 8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q56W08 | PLC3 | Phosphoinositide phospholipase C 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q39032 | PLC1 | Phosphoinositide phospholipase C 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q944C1 | PLC4 | Phosphoinositide phospholipase C 4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| A5D6R3 | plcd3a | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3-A | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASLLQDQLT | TDQDLLLMQE | GMPMRKVRSK | SWKKLRYFRL | QNDGMTVWHA | RQARGSAKPS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FSISDVETIR | NGHDSELLRS | LAEELPLEQG | FTIVFHGRRS | NLDLMANSVE | EAQIWMRGLQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LLVDLVTSMD | HQERLDQWLS | DWFQRGDKNQ | DGKMSFQEVQ | RLLHLMNVEM | DQEYAFSLFQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AADTSQSGTL | EGEEFVQFYK | ALTKRAEVQE | LFESFSADGQ | KLTLLEFLDF | LQEEQKERDC |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TSELALELID | RYEPSDSGKL | RHVLSMDGFL | SYLCSKDGDI | FNPACLPIYQ | DMTQPLNHYF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ICSSHNTYLV | GDQLCGQSSV | EGYIRALKRG | CRCVEVDVWD | GPSGEPVVYH | GHTLTSRILF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KDVVATVAQY | AFQTSDYPVI | LSLETHCSWE | QQQTMARHLT | EILGEQLLST | TLDGVLPTQL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PSPEELRRKI | LVKGKKLTLE | EDLEYEEEEA | EPELEESELA | LESQFETEPE | PQEQNLQNKD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KKKKSKPILC | PALSSLVIYL | KSVSFRSFTH | SKEHYHFYEI | SSFSETKAKR | LIKEAGNEFV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QHNTWQLSRV | YPSGLRTDSS | NYNPQELWNA | GCQMVAMNMQ | TAGLEMDICD | GHFRQNGGCG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| YVLKPDFLRD | IQSSFHPEKP | ISPFKAQTLL | IQVISGQQLP | KVDKTKEGSI | VDPLVKVQIF |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GVRLDTARQE | TNYVENNGFN | PYWGQTLCFR | VLVPELAMLR | FVVMDYDWKS | RNDFIGQYTL |
| 730 | 740 | 750 | 760 | ||
| PWTCMQQGYR | HIHLLSKDGI | SLRPASIFVY | ICIQEGLEGD | ES |