Q9P0L2
EV
Gene name |
MARK1 |
Protein name |
Serine/threonine-protein kinase MARK1 |
Names |
MAP/microtubule affinity-regulating kinase 1, PAR1 homolog c, Par-1c, Par1c |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4139 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
Protein Class |
|
Descriptions
MARK1 is a Ser/Thr protein kinase involved in various cellular processes. It is part of the CAMK-like kinase family and has roles in diseases like Alzheimer’s and cancer. The kinase’s autoinhibition is mediated by its C-terminal KA1 domain, which interacts with the kinase domain to prevent substrate binding and activation. The KA1 domain binds to the αD-helix, blocking the peptide substrate binding site and inhibiting the kinase. This autoinhibition is alleviated by the binding of anionic phospholipid membranes to the KA1 domain, which reverses MARK1 autoinhibition and stimulates kinase activity.
Autoinhibitory domains (AIDs)
Target domain |
60-311 (Protein kinase domain) |
Relief mechanism |
Others |
Assay |
Structural analysis, Mutagenesis experiment, Deletion assay |
Accessory elements
199-221 (Activation loop from InterPro)
Target domain |
60-311 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
4 structures for Q9P0L2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2HAK | X-ray | 260 A | A/B/C/D/E/F/G/H | 45-371 | PDB |
| 3OSE | X-ray | 170 A | A | 683-795 | PDB |
| 6C9D | X-ray | 250 A | A/B | 45-795 | PDB |
| AF-Q9P0L2-F1 | Predicted | AlphaFoldDB |
514 variants for Q9P0L2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA38017635 rs867845427 |
2 | S>* | No |
ClinGen TOPMed |
|
|
CA38017636 rs867845427 |
2 | S>L | No |
ClinGen TOPMed |
|
|
rs1192095907 CA344734812 |
2 | S>P | No |
ClinGen gnomAD |
|
|
CA38017637 rs868133202 |
3 | A>D | No |
ClinGen Ensembl |
|
|
rs761704613 CA1403223 |
3 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs771737931 CA1403224 |
4 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1287340091 CA344734826 |
5 | T>K | No |
ClinGen gnomAD |
|
|
rs910325250 CA344734840 |
7 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1364610003 CA344734845 |
8 | P>L | No |
ClinGen gnomAD |
|
|
CA344734844 COSM3741016 rs1301431162 |
8 | P>S | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1382978714 CA344734849 |
9 | T>A | No |
ClinGen gnomAD |
|
|
CA1403225 rs773022665 |
11 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs942782104 CA38017640 |
12 | E>Q | No |
ClinGen Ensembl |
|
|
rs1225390888 CA344734875 |
13 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 14 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344734888 rs1263862949 |
15 | T>A | No |
ClinGen gnomAD |
|
|
rs138046036 CA1403227 |
15 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1262255530 CA344734892 |
16 | E>K | No |
ClinGen gnomAD |
|
|
CA344734905 rs1486037079 |
17 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs771060168 CA1403244 |
18 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA1403245 rs776680287 |
20 | S>F | No |
ClinGen ExAC |
|
|
CA38022994 rs896906917 |
21 | V>A | No |
ClinGen Ensembl |
|
|
rs199539694 CA1403247 |
25 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1365189722 CA344734999 |
28 | H>Y | No |
ClinGen gnomAD |
|
|
CA1403248 rs752210083 |
29 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344735007 rs752210083 |
29 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762516817 CA1403249 |
31 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA1403250 rs549101695 |
32 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1373939557 CA344735027 |
32 | T>S | No |
ClinGen gnomAD |
|
|
CA1403251 rs750809761 |
33 | K>E | No |
ClinGen ExAC |
|
|
rs376677478 CA1403252 |
34 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 34 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344735041 rs376677478 |
34 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780576893 CA1403253 |
39 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344735082 rs1290500181 |
40 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1290500181 CA344735081 |
40 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1403256 rs778867635 |
42 | R>Q | No |
ClinGen ExAC |
|
|
rs755425979 CA1403255 |
42 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs748204894 CA1403257 |
43 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs758609079 CA1403258 |
45 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA344735114 rs1344624917 |
45 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA344735116 rs1178624367 |
45 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1344624917 CA344735113 |
45 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1446750562 CA344735124 |
47 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1403259 rs778052924 |
48 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA344735130 rs1572115457 |
48 | T>P | No |
ClinGen Ensembl |
|
|
CA1403261 rs147220968 |
51 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1558272714 CA344735183 |
56 | H>D | No |
ClinGen Ensembl |
|
|
rs1445938400 CA344735191 |
57 | I>V | No |
ClinGen gnomAD |
|
|
rs745830276 CA1403263 |
61 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764702338 COSM1668490 CA38022997 |
61 | R>H | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA1403264 rs745830276 |
61 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA38022998 rs990000965 |
63 | Q>R | No |
ClinGen Ensembl |
|
|
CA344735243 rs774875100 |
64 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs750059722 CA1403266 |
66 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 70 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1403267 rs763716872 |
72 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1403269 rs761072665 |
75 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM108240 rs141221883 CA38023001 |
77 | A>E | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs141221883 CA38023000 |
77 | A>G | No |
ClinGen TOPMed |
|
|
CA344735327 rs1310396054 |
77 | A>S | No |
ClinGen gnomAD |
|
|
rs765762893 CA1403273 |
80 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1178036503 CA344735363 |
83 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA344735361 rs1420510648 |
83 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 85 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749689484 CA1403289 |
88 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 91 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 94 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs112031336 CA1403290 |
95 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344735481 rs1250108449 |
99 | T>A | No |
ClinGen TOPMed |
|
|
rs777043308 CA1403291 |
99 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs765706194 CA1403293 |
102 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA1403304 COSM1668491 rs755903644 |
106 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1417466721 CA344612531 |
106 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA344612582 rs1365814603 |
109 | R>* | No |
ClinGen gnomAD |
|
|
rs749268082 CA37531323 |
109 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA1403305 rs749268082 |
109 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 116 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 127 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1243573292 CA344613855 |
130 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 132 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1403342 rs771551434 |
133 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA1403344 rs375368768 |
136 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1169383600 CA344614287 COSM463958 |
139 | A>T | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs369087348 CA1403345 COSM678441 |
139 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA1403346 rs775935987 |
140 | S>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 141 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 141 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749701599 CA1403365 |
144 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1405197953 CA344615579 |
144 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1488407444 CA344615783 |
154 | M>I | No |
ClinGen gnomAD |
|
|
CA344615777 rs1173649125 |
154 | M>T | No |
ClinGen TOPMed |
|
|
rs866846005 CA37534522 |
159 | A>D | No |
ClinGen Ensembl |
|
|
CA1403367 rs774804193 |
160 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427216472 CA344615903 |
160 | R>H | No |
ClinGen gnomAD |
|
|
rs774804193 CA344615898 |
160 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 162 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1468437033 CA344619729 |
167 | V>A | No |
ClinGen TOPMed |
|
|
CA37541307 rs535686841 |
167 | V>I | No |
ClinGen 1000Genomes gnomAD |
|
|
CA344619727 rs535686841 |
167 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
CA1403382 rs763923587 |
170 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs763923587 CA344619743 |
170 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1378669081 CA344619765 |
173 | C>R | No |
ClinGen gnomAD |
|
|
CA344619781 rs1407346638 |
175 | Q>E | No |
ClinGen gnomAD |
|
|
CA1403383 rs200049002 CA37541313 |
176 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1335494759 CA344619821 |
177 | Y>C | No |
ClinGen TOPMed |
|
|
CA344619813 rs1349442205 |
177 | Y>N | No |
ClinGen gnomAD |
|
|
rs1332076278 CA344619825 |
178 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1222245553 CA344619861 |
180 | H>R | No |
ClinGen TOPMed |
|
|
CA344619872 rs1456461350 |
181 | R>H | No |
ClinGen gnomAD |
|
| TCGA novel | 184 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344620387 rs1211293591 |
190 | L>F | No |
ClinGen gnomAD |
|
|
CA37542614 rs1013782138 |
191 | D>G | No |
ClinGen Ensembl |
|
|
rs758670540 CA1403424 |
192 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA344620472 rs1240114336 |
193 | D>H | No |
ClinGen TOPMed |
|
| TCGA novel | 194 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1403425 rs778154962 |
198 | I>M | No |
ClinGen ExAC gnomAD |
|
|
COSM1662698 CA1403428 rs781264151 |
209 | V>F | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA344620990 rs1168364080 |
210 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 213 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1356754074 CA344621095 |
214 | D>N | No |
ClinGen TOPMed |
|
|
rs762785084 CA1403432 |
226 | E>K | No |
ClinGen ExAC gnomAD |
|
| VAR_040760 | 233 | Y>C | a gastric adenocarcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
rs774152274 CA1403434 |
234 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 243 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344622085 rs1220147102 |
243 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM1733886 CA1403435 rs761658090 |
245 | V>I | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs767428099 CA1403436 |
247 | L>I | No |
ClinGen ExAC |
|
|
CA1403438 rs760233771 |
252 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1487969020 CA344622482 |
252 | S>T | No |
ClinGen gnomAD |
|
|
CA37542673 rs963660024 |
258 | D>N | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA344622887 rs1422889189 |
260 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1403440 rs753571585 |
261 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA1403441 rs754623408 |
261 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs760644296 CA1403457 |
266 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA344623270 rs1369454635 |
268 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 269 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 270 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1449406064 CA344623332 |
271 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA344623333 rs1310493972 |
271 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs776217885 CA1403459 |
273 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA344623418 rs1359424178 |
275 | R>C | No |
ClinGen TOPMed |
|
|
CA1403460 rs759123949 |
275 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 276 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764929936 CA1403461 |
279 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1209344546 CA344623631 |
283 | D>A | No |
ClinGen gnomAD |
|
| TCGA novel | 288 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA37542778 COSM678437 rs923160469 |
293 | V>A | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA344624136 rs1189111327 |
297 | I>T | No |
ClinGen gnomAD |
|
|
rs563682662 CA1403464 |
297 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1403465 rs750949859 |
300 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA344628151 rs1460753925 |
304 | Q>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 305 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1305003540 CA344628920 |
306 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 307 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 308 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM904166 rs1342564019 CA344629017 |
309 | R>* | large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA1403482 rs767899528 |
309 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1403484 rs199815541 |
312 | N>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766854704 CA1403485 |
313 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1277431924 CA344629137 |
314 | G>C | No |
ClinGen gnomAD |
|
|
rs992004325 CA37550317 |
315 | H>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 315 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1403486 rs144253102 |
318 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA344629251 rs1256414656 |
320 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 322 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 323 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs976416765 CA37550343 |
324 | T>S | No |
ClinGen TOPMed |
|
|
rs947982869 CA37550348 |
326 | P>T | No |
ClinGen TOPMed |
|
|
rs1432059361 CA344629432 |
327 | D>E | No |
ClinGen TOPMed |
|
|
CA1403489 rs748437550 |
327 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA344629426 rs1488305219 |
327 | D>V | No |
ClinGen gnomAD |
|
|
rs758630636 CA1403490 |
328 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1403492 rs376482473 |
331 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344629549 rs1178673704 |
332 | D>N | No |
ClinGen gnomAD |
|
|
rs781155005 CA1403494 |
333 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs149156758 CA344629621 |
333 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149156758 CA1403493 |
333 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745420840 CA1403495 |
335 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1400647354 CA344629687 |
335 | R>K | No |
ClinGen gnomAD |
|
|
CA1403496 rs769366441 |
336 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1188353429 CA344629739 |
337 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1403517 rs745847920 |
337 | D>V | No |
ClinGen ExAC |
|
|
rs995178583 CA37551026 |
341 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1403519 rs769551109 |
341 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1377168396 CA344630241 |
342 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 344 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1668495 rs779628864 CA1403520 |
345 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA344630396 COSM1338995 rs1322940585 |
346 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM904167 CA1403521 rs748779509 |
346 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs768361376 CA1403522 |
347 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311559851 CA344630500 |
348 | E>V | No |
ClinGen TOPMed |
|
|
rs1380673760 CA344630623 |
352 | A>T | No |
ClinGen TOPMed |
|
|
CA1403524 rs761074703 |
353 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1312994624 CA344630757 |
354 | I>T | No |
ClinGen TOPMed |
|
|
rs771360355 CA1403525 |
355 | N>I | No |
ClinGen ExAC |
|
| VAR_040761 | 355 | N>T | an ovarian serous carcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
rs1558311415 CA344630870 |
357 | K>N | No |
ClinGen Ensembl |
|
|
rs1240474378 CA344630880 |
358 | Y>N | No |
ClinGen gnomAD |
|
|
rs1440544951 CA344630990 |
359 | D>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 360 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344631125 rs1406095169 |
362 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1403526 rs776797994 |
362 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1403527 rs533008728 |
364 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1459864639 CA344631314 |
369 | G>S | No |
ClinGen gnomAD |
|
|
CA1403529 rs752891783 |
371 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763095208 CA1403530 |
373 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA37551110 rs946016992 |
374 | E>* | No |
ClinGen Ensembl |
|
|
rs1271168881 CA344632881 |
376 | E>Q | No |
ClinGen TOPMed |
|
|
rs1211007798 CA344632912 |
378 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA1403559 rs762104944 |
380 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766351368 CA1403563 |
382 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs753792743 CA1403564 |
384 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA344632989 rs1165926642 COSM1601667 |
384 | G>R | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1403565 rs754844776 |
385 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA344633018 rs1378659660 |
387 | C>R | No |
ClinGen TOPMed |
|
|
rs1558313400 CA344633042 |
388 | Q>R | No |
ClinGen Ensembl |
|
|
rs1331699760 CA344633062 |
389 | R>S | No |
ClinGen TOPMed |
|
|
COSM904170 CA1403566 rs201557089 |
391 | R>Q | Variant assessed as Somatic; 0.0001387 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1373261458 CA344633172 |
395 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1403567 rs747644946 |
397 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1403568 rs758137430 |
399 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA344633306 rs1414908224 |
400 | T>I | No |
ClinGen TOPMed |
|
|
CA344633280 rs1430731961 |
400 | T>P | No |
ClinGen gnomAD |
|
|
CA1403569 rs777264670 |
401 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1403570 rs746297410 |
405 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1403572 rs775959643 |
409 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346040067 CA344633568 |
411 | R>S | No |
ClinGen gnomAD |
|
|
rs749814847 CA1403573 |
413 | I>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 414 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs984750800 CA37553462 |
419 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1403576 rs375658319 |
420 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1403575 rs774626665 |
420 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1403577 rs767820453 COSM1491954 |
421 | R>C | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs962103935 CA37553491 |
421 | R>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 421 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1392857654 CA344633714 |
422 | F>L | No |
ClinGen gnomAD |
|
|
CA344633718 rs1558313553 |
423 | S>G | No |
ClinGen Ensembl |
|
|
rs1558313564 CA344633723 |
423 | S>N | No |
ClinGen Ensembl |
|
|
rs773282270 CA1403578 |
425 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA344633751 rs773282270 |
425 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA1403579 rs760900590 |
426 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1279458533 CA344633848 |
427 | G>D | No |
ClinGen TOPMed |
|
|
CA344633842 rs1236948023 |
427 | G>S | No |
ClinGen gnomAD |
|
|
CA344633863 rs1286089751 |
428 | P>L | No |
ClinGen gnomAD |
|
|
CA1403599 rs776477525 |
430 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1403600 rs551927325 |
431 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA37553908 rs145170499 COSM106596 |
432 | P>L | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs752602057 CA1403602 |
437 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 438 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762910826 CA1403603 |
440 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 441 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344634105 rs1189002164 |
441 | Q>L | No |
ClinGen gnomAD |
|
|
rs763519378 CA1403604 |
442 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424235927 CA344634160 |
443 | N>D | No |
ClinGen TOPMed |
|
| TCGA novel | 443 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1403605 rs751021382 |
443 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1467471311 CA344634186 |
444 | S>N | No |
ClinGen gnomAD |
|
|
rs757025177 CA1403606 |
444 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344634298 rs1396027034 |
448 | E>Q | No |
ClinGen gnomAD |
|
|
rs754291552 CA1403608 |
449 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA344634406 rs1558313964 |
451 | E>K | No |
ClinGen Ensembl |
|
|
rs1336410108 CA344634458 |
452 | E>K | No |
ClinGen gnomAD |
|
|
CA344634523 rs1356110740 |
454 | D>N | No |
ClinGen gnomAD |
|
|
rs149475508 CA1403609 |
455 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1403610 rs779286342 |
456 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200408827 COSM1339003 CA1403611 |
457 | V>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs201504768 CA1403612 |
459 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1403613 rs867755168 |
459 | R>P | No |
ClinGen TOPMed |
|
|
rs867755168 CA1403614 |
459 | R>Q | No |
ClinGen TOPMed |
|
|
CA344634764 rs1337033830 |
460 | K>Q | No |
ClinGen gnomAD |
|
|
CA344634820 rs1280609493 |
461 | L>H | No |
ClinGen gnomAD |
|
|
rs747107804 CA1403617 |
461 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA1403618 rs771183225 |
462 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA344634935 rs1259240643 |
465 | T>A | No |
ClinGen TOPMed |
|
|
rs375626019 CA1403621 |
466 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1194344275 CA344635067 |
470 | S>N | No |
ClinGen gnomAD |
|
|
CA1403623 rs762809159 |
471 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344635158 rs1229041048 |
472 | M>V | No |
ClinGen TOPMed |
|
|
rs370177092 CA1403624 |
473 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1376330434 CA344635268 |
476 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 477 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1311195238 CA344635304 |
477 | L>P | No |
ClinGen gnomAD |
|
|
CA344635320 rs1382771678 |
478 | V>A | No |
ClinGen gnomAD |
|
|
rs761372469 CA1403626 |
478 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344635382 rs1294773124 |
480 | P>L | No |
ClinGen gnomAD |
|
|
CA344635399 rs1324407633 |
481 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 485 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344635607 rs1346751933 |
486 | S>L | No |
ClinGen gnomAD |
|
|
CA344635613 rs1449064626 |
487 | T>A | No |
ClinGen TOPMed |
|
|
rs1449064626 CA344635614 |
487 | T>P | No |
ClinGen TOPMed |
|
|
CA1403628 rs750121620 |
488 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1403629 rs755786893 |
489 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs765523295 CA1403630 |
490 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1292835606 CA344635709 |
490 | S>R | No |
ClinGen TOPMed |
|
|
CA344635702 rs765523295 |
490 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA344639617 rs753043465 |
493 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1403651 rs753043465 |
493 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1403652 rs146182403 |
494 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA344639727 rs1332908780 |
497 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA344639716 rs1438470150 |
497 | G>S | No |
ClinGen gnomAD |
|
|
CA1403653 rs764320698 |
498 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1304309963 CA344639780 |
499 | M>T | No |
ClinGen gnomAD |
|
|
CA344639771 rs1222688899 |
499 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 508 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1403655 rs143958059 |
510 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143958059 CA1403654 |
510 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs938443011 CA37562368 |
510 | T>S | No |
ClinGen Ensembl |
|
|
rs781266361 CA1403656 |
512 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA1403657 rs745932586 |
513 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA344640058 rs1572236186 |
514 | Y>H | No |
ClinGen Ensembl |
|
|
CA1403660 rs749081776 |
515 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1403659 rs780288227 |
515 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA344640092 rs780288227 |
515 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344640127 rs1172105618 |
516 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs768517968 CA1403661 |
519 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA344640221 rs1282006537 COSM1177611 |
520 | G>V | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs748098661 CA1403663 |
521 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA344640273 rs1371060455 |
522 | D>G | No |
ClinGen gnomAD |
|
|
rs772075947 CA1403664 |
523 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344641001 rs1474143112 |
526 | T>A | No |
ClinGen TOPMed |
|
|
CA1403686 rs565080172 |
526 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1403689 rs770509774 |
528 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA344641013 rs1307283965 |
528 | M>V | No |
ClinGen gnomAD |
|
|
CA1403690 rs56212551 VAR_040762 |
530 | V>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA344641032 rs1484415589 |
531 | S>G | No |
ClinGen Ensembl |
|
|
rs759242491 CA1403691 |
531 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1202972297 CA344641042 |
532 | S>T | No |
ClinGen TOPMed |
|
|
rs769426910 CA1403692 |
533 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA37562801 rs896444467 |
533 | I>V | No |
ClinGen Ensembl |
|
|
CA1403693 rs774761731 |
534 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 535 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1294561336 CA344641062 |
536 | A>T | No |
ClinGen gnomAD |
|
|
CA1403694 rs762131946 |
536 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344641076 rs1233049536 |
538 | S>Y | No |
ClinGen TOPMed |
|
|
CA344641086 rs1333168844 |
539 | S>Y | No |
ClinGen TOPMed |
|
|
RCV000966780 rs79027592 CA1403696 |
541 | A>P | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA344641104 rs79027592 |
541 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761045324 CA1403697 |
542 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA344641136 rs1245562510 |
543 | A>V | No |
ClinGen gnomAD |
|
|
rs1296500144 CA344641161 |
545 | P>L | No |
ClinGen TOPMed |
|
|
CA344641184 rs753801480 |
547 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA1403699 rs753801480 |
547 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1346347772 CA344641193 COSM174190 |
548 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs755284639 CA1403700 |
548 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1325208316 CA344641205 |
549 | P>S | No |
ClinGen TOPMed |
|
|
rs1031153010 CA37562823 |
550 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs779247133 CA1403701 |
550 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779247133 CA1403702 |
550 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759727098 CA37562836 |
551 | H>Q | No |
ClinGen Ensembl |
|
|
CA37562839 rs1009958335 |
552 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1009958335 CA344641255 |
552 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA344641271 rs1235215168 |
552 | Q>R | No |
ClinGen gnomAD |
|
|
CA1403703 rs758291672 |
553 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1345751334 CA344641364 |
555 | M>I | No |
ClinGen gnomAD |
|
|
rs1018648647 CA37562848 |
557 | T>A | No |
ClinGen TOPMed |
|
|
rs746974720 CA1403705 |
558 | S>F | No |
ClinGen ExAC |
|
|
rs1405399053 CA344641466 |
559 | G>D | No |
ClinGen TOPMed |
|
|
rs1448618170 CA344641445 |
559 | G>S | No |
ClinGen gnomAD |
|
|
rs1405399053 CA344641454 |
559 | G>V | No |
ClinGen TOPMed |
|
|
rs1213368934 CA344641529 |
562 | I>T | No |
ClinGen gnomAD |
|
|
rs1254731665 CA344641551 |
563 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 563 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344641618 rs1468752619 |
565 | T>I | No |
ClinGen gnomAD |
|
|
rs567136874 CA1403708 |
567 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769473938 CA1403709 |
567 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA344641684 rs1239303624 |
569 | I>T | No |
ClinGen TOPMed |
|
|
COSM88597 CA344641742 rs1158693975 |
572 | G>S | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA37562856 rs974711996 |
572 | G>V | No |
ClinGen Ensembl |
|
|
CA1403712 rs367565722 |
573 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1222839990 CA344641855 |
577 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs371803522 CA1403713 |
577 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
VAR_040763 CA37562865 rs55691439 |
578 | P>L | No |
ClinGen UniProt Ensembl dbSNP |
|
| TCGA novel | 579 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344642182 rs1388826210 |
580 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs369587695 CA1403728 |
581 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779496577 CA1403727 |
581 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs773682931 CA1403730 |
584 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA1403729 rs142863654 |
584 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747328940 CA1403731 |
585 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747328940 CA37563115 |
585 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278999507 CA344642311 |
586 | A>G | No |
ClinGen TOPMed |
|
|
CA1403733 rs771519498 |
589 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs777027919 CA1403734 |
590 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1195963434 CA344642428 |
592 | H>Q | No |
ClinGen gnomAD |
|
|
CA344642412 rs1341221550 |
592 | H>Y | No |
ClinGen gnomAD |
|
|
CA1403735 rs760080433 |
593 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs765412716 CA1403736 |
593 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA1403738 rs763329674 |
594 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA344642477 rs763329674 |
594 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA1403739 rs764220536 |
596 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751414755 CA1403740 |
597 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1403741 rs756976523 |
599 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1168658742 CA344642590 |
600 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1403743 COSM287384 rs750355718 |
601 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs767289212 CA1403742 |
601 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755975927 COSM3418780 CA1403744 |
603 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3771631 CA1403745 rs779551896 |
603 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 605 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344642692 rs748781508 |
606 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 607 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344642705 rs1421669524 |
607 | G>R | No |
ClinGen TOPMed |
|
|
rs778397736 CA1403748 |
608 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1024863040 CA37563138 |
609 | S>A | No |
ClinGen TOPMed |
|
|
CA1403750 rs771233010 |
610 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs776989724 CA1403751 |
611 | R>Q | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1238037285 CA344643005 |
620 | R>L | No |
ClinGen TOPMed |
|
|
rs201679242 CA1403754 |
620 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs899963458 CA344643034 |
622 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs763097427 CA1403755 COSM904176 |
623 | R>C | Variant assessed as Somatic; 0.0 impact. pancreas endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs763097427 CA344643047 |
623 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM904177 rs768967864 CA1403756 |
623 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1175765028 CA344643108 |
625 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
COSM1290121 rs369987878 CA1403758 |
625 | V>I | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 630 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344643184 rs750159709 |
631 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1403760 rs750159709 |
631 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs545497455 CA1403761 |
632 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766300061 CA1403762 |
632 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1387095017 CA344643196 |
633 | S>* | No |
ClinGen gnomAD |
|
|
CA344643201 rs1386172343 |
634 | P>A | No |
ClinGen Ensembl |
|
|
CA344643203 rs1382547678 |
634 | P>L | No |
ClinGen gnomAD |
|
|
rs753386148 CA1403763 |
638 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292703678 CA344643242 |
638 | T>P | No |
ClinGen TOPMed |
|
|
CA1403766 rs752299166 |
639 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA344643280 rs1346456876 |
640 | A>E | No |
ClinGen gnomAD |
|
|
rs897753403 CA37563179 |
643 | H>Q | No |
ClinGen Ensembl |
|
|
rs1230478633 CA344643326 |
643 | H>Y | No |
ClinGen gnomAD |
|
|
CA37577112 rs12123778 VAR_030018 |
645 | R>G | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1165050058 CA344643421 |
647 | G>E | No |
ClinGen TOPMed |
|
|
CA1403768 rs145392116 |
648 | T>M | Variant assessed as Somatic; 0.0004621 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA344643435 rs1247725684 |
649 | S>T | No |
ClinGen gnomAD |
|
|
rs1402500731 CA344643512 |
653 | I>M | No |
ClinGen gnomAD |
|
|
rs1463837198 CA344643564 |
656 | I>T | No |
ClinGen gnomAD |
|
|
CA1403771 rs780687982 |
657 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 658 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1432641096 CA344643586 |
658 | S>Y | No |
ClinGen gnomAD |
|
|
CA1403772 rs749759783 |
659 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1572241107 CA344643619 |
661 | V>G | No |
ClinGen Ensembl |
|
|
CA344643630 COSM261921 rs1365446821 |
662 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA1403773 rs373048949 |
662 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs919689438 CA37564387 |
664 | D>V | No |
ClinGen TOPMed |
|
|
rs1181298730 CA344644372 |
666 | S>R | No |
ClinGen gnomAD |
|
|
CA344644405 rs1358937006 |
669 | E>K | No |
ClinGen TOPMed |
|
|
rs1266455139 CA344644435 |
671 | S>G | No |
ClinGen TOPMed |
|
|
rs1572247742 CA344644470 |
673 | R>G | No |
ClinGen Ensembl |
|
|
rs1227984844 CA344644472 |
673 | R>K | No |
ClinGen TOPMed |
|
|
rs1165455641 CA344644515 |
676 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA37577076 rs938131429 |
678 | R>S | No |
ClinGen Ensembl |
|
| TCGA novel | 679 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1403810 rs755502568 |
680 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA37577106 rs1054265006 |
681 | S>L | No |
ClinGen Ensembl |
|
|
CA37577114 rs764629768 |
682 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA344611937 rs764629768 |
682 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA344611968 rs753896578 |
684 | P>S | No |
ClinGen gnomAD |
|
|
CA37577126 rs753896578 |
684 | P>T | No |
ClinGen gnomAD |
|
|
CA344611997 rs1558332866 |
685 | K>I | No |
ClinGen Ensembl |
|
|
CA344612005 rs1226993940 |
685 | K>N | No |
ClinGen gnomAD |
|
|
CA37577131 rs757236110 |
686 | E>Q | No |
ClinGen TOPMed |
|
|
CA344612039 rs1288309386 |
687 | R>G | No |
ClinGen TOPMed |
|
| TCGA novel | 688 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344612112 rs1459806725 |
689 | K>R | No |
ClinGen gnomAD |
|
|
CA1403813 rs55688276 VAR_040764 |
691 | E>G | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
CA344612252 rs1279405728 |
695 | S>C | No |
ClinGen TOPMed |
|
|
CA344612254 rs1279405728 |
695 | S>F | No |
ClinGen TOPMed |
|
|
rs1272486011 CA344612264 |
696 | K>E | No |
ClinGen gnomAD |
|
|
rs1379428245 CA344612321 |
697 | P>L | No |
ClinGen TOPMed |
|
|
rs1233356775 COSM1339008 CA344612387 |
701 | R>W | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs775523337 CA1403820 |
706 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs372929663 CA1403823 |
712 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1403824 rs758661841 |
713 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1325432473 CA344612666 |
713 | D>V | No |
ClinGen TOPMed |
|
|
rs1359134676 CA344612692 |
715 | N>T | No |
ClinGen gnomAD |
|
|
CA1403826 rs112266809 |
717 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs901442620 CA37577192 |
722 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs755347862 CA1403828 |
722 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755347862 COSM1214570 CA1403827 |
722 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1227874271 CA344612990 |
727 | A>V | No |
ClinGen gnomAD |
|
|
CA529461725 rs1480842097 |
730 | C>* | No |
ClinGen gnomAD |
|
|
rs758844887 CA1403830 |
733 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1295708926 CA344613115 |
733 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA344613144 rs1235171768 |
735 | K>T | No |
ClinGen gnomAD |
|
|
CA1403831 rs777889635 |
736 | E>G | No |
ClinGen ExAC gnomAD |
|
| rs1558333111 | 736 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344613171 rs1310433919 |
737 | R>I | No |
ClinGen gnomAD |
|
|
CA1403832 rs538601440 |
738 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs538601440 CA1403833 |
738 | F>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 739 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM210016 CA1403834 rs781456915 |
741 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 742 | C>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1403835 rs746032770 |
744 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA37577231 rs1055077848 |
744 | H>R | No |
ClinGen TOPMed |
|
|
CA344613340 rs1186223503 |
746 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA1403837 rs558538069 |
747 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1403838 rs779980390 |
748 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1403839 rs768698774 |
749 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs774069785 CA1403840 |
750 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344613453 rs774069785 |
750 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761374527 CA1403841 |
752 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139856187 CA1403843 |
753 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139856187 CA344613548 |
753 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA37577255 rs918917478 |
772 | F>V | No |
ClinGen Ensembl |
|
|
rs760205356 CA1403844 |
773 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1403846 rs752992049 |
775 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA344614207 rs752992049 |
775 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1437269462 CA344614243 |
776 | S>F | No |
ClinGen gnomAD |
|
|
CA344614247 rs1274412122 |
777 | G>R | No |
ClinGen gnomAD |
|
|
CA1403847 rs763519886 |
778 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA344614333 rs1328174645 |
780 | I>V | No |
ClinGen gnomAD |
|
|
rs1332921316 CA344614410 |
784 | N>H | No |
ClinGen Ensembl |
|
|
rs1274637928 CA344614425 |
784 | N>K | No |
ClinGen gnomAD |
|
|
CA344614555 rs1344556026 |
793 | L>F | No |
ClinGen TOPMed |
|
|
CA344614603 rs1288278527 |
794 | K>R | No |
ClinGen gnomAD |
|
|
rs201769163 CA1403851 |
796 | L>E | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q9P0L2
Without disease ID
5 regional properties for Q9P0L2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 60 - 311 | IPR000719 |
| domain | Kinase associated domain 1 (KA1) | 746 - 795 | IPR001772 |
| active_site | Serine/threonine-protein kinase, active site | 178 - 190 | IPR008271 |
| domain | Ubiquitin-associated domain | 325 - 370 | IPR015940 |
| binding_site | Protein kinase, ATP binding site | 66 - 89 | IPR017441 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.1 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| microtubule cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| magnesium ion binding | Binding to a magnesium (Mg) ion. |
| phosphatidic acid binding | Binding to phosphatidic acid, any of a class of glycerol phosphate in which both the remaining hydroxyl groups of the glycerol moiety are esterified with fatty acids. |
| phosphatidylinositol-4,5-bisphosphate binding | Binding to phosphatidylinositol-4,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' and 5' positions. |
| phosphatidylserine binding | Binding to phosphatidylserine, a class of glycophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of L-serine. |
| protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
| protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
| tau protein binding | Binding to tau protein. tau is a microtubule-associated protein, implicated in Alzheimer's disease, Down Syndrome and ALS. |
| tau-protein kinase activity | Catalysis of the reaction: ATP + tau-protein = ADP + O-phospho-tau-protein. |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures. |
| establishment of mitochondrion localization | The directed movement of the mitochondrion to a specific location. |
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| microtubule cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. |
| negative regulation of epithelial to mesenchymal transition | Any process that decreases the rate, frequency, or extent of epithelial to mesenchymal transition. Epithelial to mesenchymal transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell. |
| negative regulation of gene expression | Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| neuron migration | The characteristic movement of an immature neuron from germinal zones to specific positions where they will reside as they mature. |
| peptidyl-serine phosphorylation | The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of dendrite development | Any process that modulates the frequency, rate or extent of dendrite development. |
| regulation of neuron projection development | Any process that modulates the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| Wnt signaling pathway | The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state. |
20 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P57059 | SIK1 | Serine/threonine-protein kinase SIK1 | Homo sapiens (Human) | PR |
| Q8N5S9 | CAMKK1 | Calcium/calmodulin-dependent protein kinase kinase 1 | Homo sapiens (Human) | SS |
| Q96L34 | MARK4 | MAP/microtubule affinity-regulating kinase 4 | Homo sapiens (Human) | SS |
| Q7KZI7 | MARK2 | Serine/threonine-protein kinase MARK2 | Homo sapiens (Human) | SS |
| Q96RG2 | PASK | PAS domain-containing serine/threonine-protein kinase | Homo sapiens (Human) | EV |
| P27448 | MARK3 | MAP/microtubule affinity-regulating kinase 3 | Homo sapiens (Human) | SS |
| Q8C0N0 | Gm4922 | Sperm motility kinase Z | Mus musculus (Mouse) | PR |
| Q8C0X8 | Sperm motility kinase X | Mus musculus (Mouse) | PR | |
| Q03141 | Mark3 | MAP/microtubule affinity-regulating kinase 3 | Mus musculus (Mouse) | SS |
| Q8CIP4 | Mark4 | MAP/microtubule affinity-regulating kinase 4 | Mus musculus (Mouse) | SS |
| A0AUV4 | Gm7168 | Sperm motility kinase Y | Mus musculus (Mouse) | PR |
| Q05512 | Mark2 | Serine/threonine-protein kinase MARK2 | Mus musculus (Mouse) | SS |
| Q8VHJ5 | Mark1 | Serine/threonine-protein kinase MARK1 | Mus musculus (Mouse) | SS |
| Q8VHF0 | Mark3 | MAP/microtubule affinity-regulating kinase 3 | Rattus norvegicus (Rat) | SS |
| O08679 | Mark2 | Serine/threonine-protein kinase MARK2 | Rattus norvegicus (Rat) | SS |
| O08678 | Mark1 | Serine/threonine-protein kinase MARK1 | Rattus norvegicus (Rat) | SS |
| Q852Q1 | OSK4 | Serine/threonine protein kinase OSK4 | Oryza sativa subsp. japonica (Rice) | SS |
| Q852Q2 | OSK1 | Serine/threonine protein kinase OSK1 | Oryza sativa subsp. japonica (Rice) | SS |
| Q852Q0 | OSK3 | Serine/threonine protein kinase OSK3 | Oryza sativa subsp. japonica (Rice) | SS |
| Q9TW45 | par-1 | Serine/threonine-protein kinase par-1 | Caenorhabditis elegans | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSARTPLPTV | NERDTENHTS | VDGYTEPHIQ | PTKSSSRQNI | PRCRNSITSA | TDEQPHIGNY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RLQKTIGKGN | FAKVKLARHV | LTGREVAVKI | IDKTQLNPTS | LQKLFREVRI | MKILNHPNIV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KLFEVIETEK | TLYLVMEYAS | GGEVFDYLVA | HGRMKEKEAR | AKFRQIVSAV | QYCHQKYIVH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RDLKAENLLL | DGDMNIKIAD | FGFSNEFTVG | NKLDTFCGSP | PYAAPELFQG | KKYDGPEVDV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| WSLGVILYTL | VSGSLPFDGQ | NLKELRERVL | RGKYRIPFYM | STDCENLLKK | LLVLNPIKRG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SLEQIMKDRW | MNVGHEEEEL | KPYTEPDPDF | NDTKRIDIMV | TMGFARDEIN | DALINQKYDE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VMATYILLGR | KPPEFEGGES | LSSGNLCQRS | RPSSDLNNST | LQSPAHLKVQ | RSISANQKQR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RFSDHAGPSI | PPAVSYTKRP | QANSVESEQK | EEWDKDVARK | LGSTTVGSKS | EMTASPLVGP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ERKKSSTIPS | NNVYSGGSMA | RRNTYVCERT | TDRYVALQNG | KDSSLTEMSV | SSISSAGSSV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ASAVPSARPR | HQKSMSTSGH | PIKVTLPTIK | DGSEAYRPGT | TQRVPAASPS | AHSISTATPD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RTRFPRGSSS | RSTFHGEQLR | ERRSVAYNGP | PASPSHETGA | FAHARRGTST | GIISKITSKF |
| 670 | 680 | 690 | 700 | 710 | 720 |
| VRRDPSEGEA | SGRTDTSRST | SGEPKERDKE | EGKDSKPRSL | RFTWSMKTTS | SMDPNDMMRE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| IRKVLDANNC | DYEQKERFLL | FCVHGDARQD | SLVQWEMEVC | KLPRLSLNGV | RFKRISGTSI |
| 790 | |||||
| AFKNIASKIA | NELKL |