P20794
PR
Gene name |
MAK |
Protein name |
Serine/threonine-protein kinase MAK |
Names |
Male germ cell-associated kinase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4117 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
142-164 (Activation loop from InterPro)
Target domain |
4-284 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
1 structures for P20794
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P20794-F1 | Predicted | AlphaFoldDB |
499 variants for P20794
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
VAR_066988 RCV001851998 RCV000022650 CA259649 rs387906647 |
13 | G>S | Retinitis pigmentosa 62 (rp62) Retinitis pigmentosa 62 RP62; results in a complete loss of kinase activity compared to wild-type [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA3633840 COSM1257177 VAR_066989 rs754916169 RCV001053338 RCV001342546 CA3633839 |
27 | G>R | oesophagus RP62 [Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD UniProt |
|
RCV000279111 CA10625615 rs560065834 |
40 | Y>C | Retinitis Pigmentosa, Recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV000178159 rs371263215 CA245185 RCV000369115 |
58 | N>K | Retinitis Pigmentosa, Recessive [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs527236082 RCV001380779 RCV000132643 |
114 | A>missing | Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3633754 RCV002546816 RCV001337416 rs200506656 RCV002486346 |
119 | H>R | Retinitis pigmentosa 62 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA259647 VAR_066990 rs387906646 RCV000022649 |
130 | N>H | Retinitis pigmentosa 62 (rp62) Retinitis pigmentosa 62 RP62; results in a complete loss of kinase activity compared to wild-type [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001003076 rs1581727126 |
132 | L>missing | Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
rs974426122 CA134123825 RCV002547012 RCV001344434 |
158 | D>E | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001862856 RCV001075870 RCV002298870 rs774229391 CA3633712 |
162 | T>I | Retinitis pigmentosa Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs527236081 RCV000132644 RCV001341119 CA270075 |
166 | R>C | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001388421 VAR_066991 RCV000022651 RCV001003075 CA259651 rs387906648 |
166 | R>H | Retinitis pigmentosa Retinitis pigmentosa 62 (rp62) Retinitis pigmentosa 62 RP62 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
CA3633679 VAR_066992 rs750559316 |
181 | I>T | RP62 [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
RCV001315049 rs527236080 CA270078 RCV000132645 |
185 | A>T | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002543836 RCV001322004 rs141312468 CA3633676 |
186 | V>F | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs182178532 CA134120082 RCV001203775 RCV001376498 |
216 | L>S | Retinitis pigmentosa 62 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
rs746596336 CA247585 RCV002517760 RCV000180213 |
237 | R>H | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001074734 rs1039053911 RCV001008943 |
240 | Q>missing | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA134118690 RCV000022648 rs779514800 |
240 | Q>* | Retinitis pigmentosa 62 (rp62) Retinitis pigmentosa 62 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001046482 RCV000365751 CA3633631 rs199689074 |
263 | E>K | Retinitis Pigmentosa, Recessive [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM180738 RCV000787620 rs753314164 CA3633628 RCV001388822 |
272 | R>* | Variant assessed as Somatic; 0.0 impact. Retinitis pigmentosa large_intestine Retinitis pigmentosa (rp) [NCI-TCGA, ClinVar, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001317683 RCV000406204 rs200641218 CA3633589 |
323 | P>R | Retinitis Pigmentosa, Recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001230665 RCV002563743 rs371774117 CA3633572 |
349 | P>L | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003155374 RCV001223027 rs1196153507 |
364 | Q>missing | Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201494324 RCV001239778 RCV002567938 CA3633555 |
370 | T>M | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1581697849 RCV000787619 |
382 | K>* | Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
rs62000445 RCV001700085 RCV000971523 CA3633519 RCV000349993 |
395 | R>L | Retinitis Pigmentosa, Recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001067711 rs144848825 RCV002555863 CA3633512 |
410 | L>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3633511 RCV000292763 rs200944697 |
413 | Y>C | Retinitis Pigmentosa, Recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001074302 CA3633493 rs758956117 |
439 | R>Q | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001784632 rs762837543 RCV001862526 RCV001073942 |
454 | E>missing | Retinitis pigmentosa 62 Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002543654 RCV001314816 rs376120162 CA3633449 |
461 | V>I | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002521967 RCV000306405 RCV000332343 rs149006687 CA3633444 |
469 | E>K | Retinitis Pigmentosa, Recessive Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001517536 CA3633402 rs567083 VAR_042009 RCV000320409 |
520 | P>S | Retinitis Pigmentosa, Recessive [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3633368 RCV000779484 rs186643840 |
541 | Y>* | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001074305 RCV000513105 RCV001199705 rs1347914291 |
542 | N>missing | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs79544660 RCV000267725 RCV000762391 RCV000174716 RCV000625227 CA201139 |
547 | I>T | Retinitis pigmentosa 62 Retinitis Pigmentosa, Recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001041295 rs200319110 RCV000360081 CA3633358 |
563 | H>Y | Retinitis Pigmentosa, Recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000298035 CA3633356 rs200866765 RCV001340383 |
568 | N>S | Retinitis Pigmentosa, Recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001058246 CA134141069 rs368535018 RCV002553841 COSM1329368 |
582 | R>Q | ovary Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV002553270 rs1274445058 CA362719376 RCV001051887 |
585 | F>Y | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV003132292 RCV001223571 CA3633330 rs201628941 |
587 | G>R | Retinitis pigmentosa 62 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs371429892 RCV002563181 RCV001230243 CA3633326 |
591 | N>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001346536 rs1030932728 |
1 | M>T | No |
ClinVar dbSNP |
|
|
CA3633858 rs558628181 |
3 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752676297 CA3633857 |
3 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3633855 rs200406214 |
6 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3633854 rs753647340 |
7 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs985158888 CA134140481 |
9 | Q>P | No |
ClinGen Ensembl |
|
| TCGA novel | 9 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3633852 rs760408768 |
11 | G>E | No |
ClinGen ExAC gnomAD |
|
|
RCV001314342 rs1778747154 |
11 | G>R | No |
ClinVar dbSNP |
|
|
rs387906647 CA3633850 |
13 | G>R | Retinitis pigmentosa 62 (rp62) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776197156 CA362721820 |
14 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3633849 rs776197156 RCV001037565 |
14 | T>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA3633847 rs751370670 |
16 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs777163256 CA3633846 RCV001300178 |
17 | S>N | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA362721797 rs1454917334 |
18 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 21 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1191914292 CA362721762 |
23 | S>G | No |
ClinGen gnomAD |
|
|
rs1468105399 CA362721760 |
23 | S>T | No |
ClinGen gnomAD |
|
|
CA362721749 rs1232368424 |
24 | N>K | No |
ClinGen gnomAD |
|
|
CA362721739 rs1397999829 |
26 | S>T | No |
ClinGen TOPMed |
|
|
rs972255344 CA134140339 |
27 | G>E | No |
ClinGen gnomAD |
|
|
CA362721726 RCV001238323 rs1284073816 |
28 | E>G | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA362721717 rs1439418721 |
30 | V>L | No |
ClinGen gnomAD |
|
|
CA362721695 COSM1071870 rs1350418617 |
33 | K>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1561995373 CA362721667 |
35 | M>T | No |
ClinGen Ensembl |
|
|
rs755003228 CA3633821 |
37 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 37 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA134131864 rs968659947 |
38 | K>M | No |
ClinGen TOPMed |
|
|
rs749261144 CA3633820 |
42 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA362721612 rs1189309202 |
43 | D>N | No |
ClinGen gnomAD |
|
|
rs866589533 CA134131842 |
44 | E>* | No |
ClinGen Ensembl |
|
|
rs779850347 CA3633819 |
46 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA3633818 rs755994791 |
47 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA134131804 rs1006101863 |
50 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 53 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000388245 rs886043417 |
57 | L>missing | No |
ClinVar dbSNP |
|
|
rs568872972 CA3633793 |
57 | L>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758042729 CA3633792 |
58 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1454728472 CA362721493 |
58 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 59 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1157354118 CA362721486 COSM1439619 |
59 | H>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs761118698 CA3633790 |
62 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs764738214 RCV001237947 CA3633791 |
62 | V>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1466767100 CA362721434 |
67 | E>* | No |
ClinGen gnomAD |
|
|
rs1205685765 CA362721423 |
68 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA362721425 rs767920227 |
68 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3633788 rs767920227 |
68 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1383668573 CA362721414 |
70 | R>G | No |
ClinGen TOPMed |
|
|
rs762158772 CA3633787 |
72 | N>S | No |
ClinGen ExAC |
|
|
rs774612770 CA3633786 |
73 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1258804940 CA362721381 |
74 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1348246630 CA362721356 |
77 | F>L | No |
ClinGen gnomAD |
|
|
CA3633784 rs763168003 |
78 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA134130965 rs867424029 |
86 | L>F | No |
ClinGen gnomAD |
|
|
rs867424029 CA362721292 |
86 | L>I | No |
ClinGen gnomAD |
|
|
rs775458619 CA3633782 |
86 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362721291 rs867424029 |
86 | L>V | No |
ClinGen gnomAD |
|
|
CA362721287 rs1337021719 |
87 | Y>H | No |
ClinGen TOPMed |
|
|
CA134130955 rs79404971 |
90 | M>L | No |
ClinGen Ensembl |
|
|
CA362721261 rs1287561741 RCV001294540 |
90 | M>R | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA3633780 rs769859859 |
91 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362721196 rs1561988625 |
97 | F>S | No |
ClinGen Ensembl |
|
|
rs776770214 CA3633760 |
98 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771009179 CA3633759 |
99 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA362721175 rs1342981896 |
100 | S>L | No |
ClinGen TOPMed |
|
|
rs1278201229 CA362721167 |
102 | I>V | No |
ClinGen gnomAD |
|
|
CA134127736 rs367716586 |
104 | N>D | No |
ClinGen ESP TOPMed |
|
|
rs771852650 CA3633756 |
106 | M>I | No |
ClinGen ExAC TOPMed |
|
|
rs773172706 CA3633757 |
106 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA362721127 rs1341598207 |
107 | Y>* | No |
ClinGen gnomAD |
|
|
CA362721118 rs1561988502 |
108 | Q>H | No |
ClinGen Ensembl |
|
|
CA362721103 rs1218616433 |
111 | Q>E | No |
ClinGen gnomAD |
|
|
rs1561988458 CA362721081 |
114 | A>D | No |
ClinGen Ensembl |
|
|
rs1382321620 CA362721061 |
117 | H>Y | No |
ClinGen TOPMed |
|
|
rs1465632851 CA362721055 |
118 | K>* | No |
ClinGen gnomAD |
|
|
CA362721017 rs1404663511 |
121 | F>C | No |
ClinGen gnomAD |
|
|
CA362721010 rs1408499016 |
122 | F>S | No |
ClinGen gnomAD |
|
|
rs762987092 CA134124006 |
124 | R>K | No |
ClinGen Ensembl |
|
| TCGA novel | 125 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1236586885 CA362720978 |
126 | M>I | No |
ClinGen gnomAD |
|
|
CA362720970 rs1178198709 |
127 | K>I | No |
ClinGen gnomAD |
|
|
CA362720963 rs1468984423 |
128 | P>R | No |
ClinGen gnomAD |
|
|
CA362720947 rs1254927146 |
130 | N>K | No |
ClinGen gnomAD |
|
|
rs1370302462 CA362720926 |
133 | C>W | No |
ClinGen TOPMed |
|
|
CA362720919 rs1351885504 |
134 | M>I | No |
ClinGen gnomAD |
|
|
CA3633730 rs773956623 |
134 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA3633728 rs768356424 |
135 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs779562217 CA3633726 |
136 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1291266849 CA362720911 |
136 | P>T | No |
ClinGen gnomAD |
|
|
rs201804752 CA3633725 |
137 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA362720896 rs1561981577 |
138 | L>P | No |
ClinGen Ensembl |
|
|
CA3633724 rs747553199 |
139 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 141 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3633722 rs758750076 |
141 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3633723 rs141420368 |
141 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3633720 rs765454168 |
146 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs765454168 CA134123894 |
146 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3633719 rs755260124 |
147 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs112561079 CA134123888 |
147 | A>T | No |
ClinGen Ensembl |
|
|
rs1034695599 CA134123861 |
151 | R>S | No |
ClinGen TOPMed |
|
|
CA3633717 rs766619005 |
152 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs921623541 CA134123860 |
152 | S>P | No |
ClinGen Ensembl |
|
|
CA362720804 rs1218496202 |
153 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA362720800 rs1285714453 |
154 | P>T | No |
ClinGen gnomAD |
|
|
rs760809915 CA3633716 |
155 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1218134301 CA362720783 |
156 | Y>* | No |
ClinGen gnomAD |
|
|
rs1298642816 CA362720788 |
156 | Y>H | No |
ClinGen gnomAD |
|
|
rs1298642816 CA362720789 |
156 | Y>N | No |
ClinGen gnomAD |
|
|
rs375659310 CA134123829 |
157 | T>S | No |
ClinGen ESP |
|
|
rs1361968964 CA362720778 |
157 | T>S | No |
ClinGen gnomAD |
|
|
rs138795058 CA3633715 |
159 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
RCV001064379 rs1776698088 |
160 | V>I | No |
ClinVar dbSNP |
|
|
rs372605229 CA3633714 |
161 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV001346149 rs145065729 CA3633713 |
162 | T>S | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3633711 rs768283205 |
163 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362720720 rs1425948622 |
164 | W>* | No |
ClinGen gnomAD |
|
|
CA362720736 rs1174145839 |
164 | W>L | No |
ClinGen gnomAD |
|
|
CA362720700 rs1180967714 |
168 | P>A | No |
ClinGen gnomAD |
|
|
COSM1696924 CA134120196 rs912623788 |
170 | V>I | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
RCV001051413 rs373520122 CA3633687 |
172 | L>Q | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs369612015 CA3633686 |
173 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779260712 CA3633684 |
174 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA362720663 rs1273757564 |
174 | S>Y | No |
ClinGen gnomAD |
|
|
CA362720652 rs1235014016 |
176 | V>F | No |
ClinGen gnomAD |
|
|
CA3633683 rs769213821 |
177 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3633681 rs572867029 |
178 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3633680 rs558155479 |
179 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA362720626 rs1292238565 |
180 | P>L | No |
ClinGen TOPMed |
|
|
CA134120174 rs747216229 |
181 | I>V | No |
ClinGen Ensembl |
|
|
CA3633678 rs781377439 |
183 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA362720599 rs1459871246 |
184 | W>* | No |
ClinGen gnomAD |
|
|
CA134120122 rs932606197 |
187 | G>E | No |
ClinGen gnomAD |
|
|
CA362720573 rs56215624 |
189 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3633674 VAR_042006 rs56215624 |
189 | I>V | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
CA362720561 rs1213595977 |
190 | M>I | No |
ClinGen TOPMed |
|
|
CA362720558 rs1456951286 |
191 | A>T | No |
ClinGen gnomAD |
|
|
rs752496358 CA3633673 |
194 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001348121 rs1581714541 CA362720529 |
195 | M>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA3633671 rs369797377 |
200 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1355512713 CA362720461 |
205 | E>* | No |
ClinGen gnomAD |
|
|
CA362720449 rs1376304898 |
207 | D>N | No |
ClinGen gnomAD |
|
|
rs760103192 CA3633667 |
208 | E>K | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs1581714433 CA362720428 |
209 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
| TCGA novel | 210 | F>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362720422 rs1389203511 |
210 | F>C | No |
ClinGen gnomAD |
|
|
rs143572116 CA3633666 |
213 | C>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3633665 rs769287766 |
216 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA362720368 rs1156495365 |
218 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA362720365 rs1438667177 |
219 | P>S | No |
ClinGen gnomAD |
|
|
CA362720331 rs1346604622 |
222 | S>C | No |
ClinGen TOPMed |
|
|
rs1428296035 CA362720325 |
223 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs112257972 CA3633644 RCV001036541 |
225 | P>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3633642 rs375351078 |
226 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362720303 rs1255947370 |
226 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 228 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs530738750 CA3633641 |
229 | Q>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 229 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3633640 rs771061280 |
230 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs933014169 CA134118728 |
233 | S>F | No |
ClinGen TOPMed |
|
|
rs1335904657 CA362720248 CA362720247 |
234 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA362720251 rs1341350247 |
234 | M>T | No |
ClinGen gnomAD |
|
|
CA134118712 rs754415973 |
234 | M>V | No |
ClinGen TOPMed |
|
|
CA362720240 rs1465620530 |
235 | N>K | No |
ClinGen TOPMed |
|
|
CA3633638 RCV001036542 rs111618569 |
237 | R>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA134118689 rs201114107 |
240 | Q>R | No |
ClinGen 1000Genomes |
|
|
CA362720204 rs1561971255 |
241 | C>G | No |
ClinGen Ensembl |
|
|
rs1408523113 CA362720194 |
242 | V>A | No |
ClinGen TOPMed |
|
|
CA362720198 rs1420826552 |
242 | V>I | No |
ClinGen gnomAD |
|
|
rs1169407807 CA362720147 |
249 | L>R | No |
ClinGen gnomAD |
|
|
rs1474006762 CA362720140 |
250 | I>T | No |
ClinGen gnomAD |
|
|
rs1475316181 CA362720131 |
252 | N>D | No |
ClinGen gnomAD |
|
|
CA134118652 rs377107543 |
252 | N>K | No |
ClinGen gnomAD |
|
|
RCV001314916 CA3633637 rs371639894 |
252 | N>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1255994993 CA362720106 |
255 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs754864509 CA3633635 |
256 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1320693719 CA362720091 |
257 | A>V | No |
ClinGen gnomAD |
|
|
rs368102323 CA3633633 |
260 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV001349634 rs368102323 CA3633634 |
260 | L>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA362720041 rs1286196949 |
264 | M>I | No |
ClinGen gnomAD |
|
|
CA362720044 rs1257643133 |
264 | M>T | No |
ClinGen TOPMed |
|
|
rs761403711 CA3633629 |
269 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 270 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_042007 | 272 | R>P | a breast infiltrating ductal carcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
CA3633627 rs765675052 |
272 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs149734152 CA3633626 |
273 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362719982 rs1337347948 |
273 | P>S | No |
ClinGen TOPMed |
|
|
CA362719971 rs1359585876 |
275 | A>E | No |
ClinGen Ensembl |
|
|
rs776892781 CA3633625 |
275 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362719965 rs1203688367 |
276 | S>N | No |
ClinGen gnomAD |
|
|
rs934461510 CA134118579 |
277 | Q>H | No |
ClinGen Ensembl |
|
|
CA134115065 rs55950618 |
281 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763618857 CA3633608 |
284 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs759984800 CA3633607 |
284 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1435173021 CA362719891 |
285 | Q>P | No |
ClinGen gnomAD |
|
|
rs1340695631 CA362719881 |
286 | V>G | No |
ClinGen gnomAD |
|
|
CA362719875 rs1299670114 |
287 | G>D | No |
ClinGen gnomAD |
|
|
rs754349931 CA3633606 |
288 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA362719867 rs1158908117 |
289 | V>I | No |
ClinGen gnomAD |
|
|
CA134115010 rs1011144091 |
290 | L>S | No |
ClinGen gnomAD |
|
|
rs200901108 CA134115002 COSM1662678 |
291 | G>S | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA362719849 rs1165950474 |
292 | P>S | No |
ClinGen TOPMed |
|
|
rs773485283 RCV001229142 CA3633603 |
293 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA3633601 rs761959677 |
294 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA362719815 rs1264094117 |
297 | L>P | No |
ClinGen gnomAD |
|
|
CA362719800 rs1196117020 |
299 | S>L | No |
ClinGen gnomAD |
|
|
rs774449472 CA3633600 |
301 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA134114951 rs199921765 |
304 | N>D | No |
ClinGen 1000Genomes |
|
|
rs768757013 CA3633599 |
304 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775490393 CA3633597 |
307 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA3633598 rs186218889 |
307 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs919935409 CA134114940 |
308 | Q>P | No |
ClinGen TOPMed |
|
|
CA3633596 rs769534346 |
310 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA3633595 rs745670820 |
314 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA3633594 rs781065923 |
316 | L>F | No |
ClinGen ExAC TOPMed |
|
|
CA362719685 rs1279615798 |
317 | V>A | No |
ClinGen gnomAD |
|
|
rs757000356 CA3633592 |
317 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1397731773 CA362719675 |
319 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA3633591 rs746612091 |
320 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs200641218 CA3633590 |
323 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA134114873 rs762412793 |
323 | P>T | No |
ClinGen Ensembl |
|
|
CA3633588 rs371971492 RCV001317325 VAR_066993 |
325 | P>L | No |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs367903138 CA362719635 |
326 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367903138 CA3633587 |
326 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767830843 CA362719615 |
328 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17579447 CA134114852 VAR_053932 |
329 | D>E | No |
ClinGen UniProt Ensembl dbSNP |
|
|
RCV001236551 rs201812469 CA3633584 |
329 | D>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs774598986 CA3633583 |
330 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA362719601 rs1189846757 |
331 | V>I | No |
ClinGen TOPMed |
|
|
rs764142857 CA3633582 |
332 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1458203787 CA362719559 |
337 | P>L | No |
ClinGen gnomAD |
|
|
rs1458203787 CA362719558 |
337 | P>R | No |
ClinGen gnomAD |
|
|
CA362719555 rs1471765535 |
338 | K>E | No |
ClinGen TOPMed |
|
|
CA3633577 rs769859243 |
342 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA362719488 rs1364463122 |
344 | L>P | No |
ClinGen TOPMed |
|
|
rs770829149 CA3633574 |
347 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3633573 rs746701788 |
348 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA3633570 rs747711453 |
350 | P>L | No |
ClinGen ExAC TOPMed |
|
|
rs778223936 CA3633569 |
351 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3633568 rs756648303 |
351 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA3633567 rs750884327 |
352 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA3633566 rs767905978 |
354 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA3633564 rs751783623 |
355 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3633563 rs200300453 |
357 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV001301293 rs1775527825 |
359 | P>A | No |
ClinVar dbSNP |
|
|
CA134114715 rs1037746595 |
360 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3633562 rs763018137 |
362 | Q>E | No |
ClinGen ExAC gnomAD |
|
| rs1196153507 | 364 | Q>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 364 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201558986 CA134114705 |
365 | E>K | No |
ClinGen 1000Genomes |
|
|
CA3633559 rs765357899 |
366 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs776680313 COSM1439609 CA3633557 |
367 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3633558 rs776680313 |
367 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1581698012 CA362719114 |
370 | T>P | No |
ClinGen Ensembl |
|
|
rs987328754 CA134114618 |
371 | L>P | No |
ClinGen Ensembl |
|
|
CA362719084 rs1581697964 |
372 | F>S | No |
ClinGen Ensembl |
|
|
CA134114612 rs1021282870 |
373 | P>A | No |
ClinGen TOPMed |
|
|
rs771764863 COSM1439608 CA3633553 |
373 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs747716951 CA134114596 |
374 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA3633552 rs747716951 |
374 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA362719038 rs1459620580 |
375 | I>T | No |
ClinGen gnomAD |
|
|
rs1482158177 CA362719047 |
375 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 376 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778510807 CA3633551 |
376 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs150744360 CA3633549 RCV001344701 |
379 | M>I | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3633548 rs781652966 |
380 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA362718955 rs922726283 |
381 | T>A | No |
ClinGen gnomAD |
|
|
CA134114579 rs922726283 |
381 | T>P | No |
ClinGen gnomAD |
|
|
rs1467892438 CA362718920 |
383 | P>A | No |
ClinGen gnomAD |
|
|
rs1321506339 CA362718914 |
384 | N>D | No |
ClinGen gnomAD |
|
|
rs1184550118 CA362718909 |
384 | N>K | No |
ClinGen TOPMed |
|
|
VAR_042008 rs55773478 CA3633524 |
384 | N>S | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA134112482 rs866844476 |
385 | G>D | No |
ClinGen Ensembl |
|
|
CA362718889 rs755195964 |
388 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3633523 rs755195964 |
388 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs931685472 CA134112477 |
389 | H>R | No |
ClinGen TOPMed |
|
|
CA362718869 rs1342658202 |
391 | S>G | No |
ClinGen gnomAD |
|
|
CA362718851 rs1454836195 |
393 | R>S | No |
ClinGen TOPMed |
|
|
COSM1071837 CA3633521 RCV001337970 rs753974545 |
395 | R>C | endometrium Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA3633520 rs62000445 RCV001236773 |
395 | R>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3633518 rs750310318 |
396 | W>C | No |
ClinGen ExAC |
|
|
rs1402754772 CA362718838 |
396 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA362718829 rs1374351138 |
397 | G>S | No |
ClinGen TOPMed |
|
|
RCV001090477 rs1445845736 |
399 | T>missing | No |
ClinVar dbSNP |
|
|
CA362718796 rs1561956467 |
399 | T>S | No |
ClinGen Ensembl |
|
|
rs200533678 CA3633516 |
402 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763737966 CA3633514 |
407 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA134112433 rs961010765 |
413 | Y>H | No |
ClinGen Ensembl |
|
|
rs1008112876 CA134112413 |
414 | D>H | No |
ClinGen Ensembl |
|
|
rs1191421873 CA362718546 |
415 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs549436795 CA3633508 |
416 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM173361 rs773588644 CA3633509 |
416 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs779355214 CA362718511 |
417 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA3633507 rs748539209 |
417 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779355214 CA3633506 |
417 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA362718470 rs1250725921 |
420 | S>Y | No |
ClinGen TOPMed |
|
|
rs755285965 CA3633505 |
421 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs137918175 CA3633504 |
422 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1226334213 CA362718420 |
423 | P>L | No |
ClinGen gnomAD |
|
|
rs780233328 CA134112379 |
424 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs780233328 CA3633503 |
424 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1226073158 CA362718401 |
425 | M>V | No |
ClinGen TOPMed |
|
|
CA362718378 rs1336000951 |
426 | G>C | No |
ClinGen gnomAD |
|
|
CA3633502 rs139003494 |
426 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1775102736 RCV001241958 |
428 | F>missing | No |
ClinVar dbSNP |
|
|
CA362718357 rs1561956105 |
428 | F>I | No |
ClinGen Ensembl |
|
|
CA362718345 rs1331384829 |
428 | F>L | No |
ClinGen gnomAD |
|
|
rs767365219 CA3633500 |
430 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362718323 rs767365219 |
430 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3633499 rs757149659 |
431 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA134112354 rs1043142792 |
432 | R>G | No |
ClinGen Ensembl |
|
|
RCV001350509 rs1434802649 CA362718288 |
432 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs1472957999 CA362718277 |
433 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA362718251 rs1369394658 |
434 | K>R | No |
ClinGen gnomAD |
|
|
CA3633496 rs760421859 |
435 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs201502742 RCV001069796 CA3633497 |
435 | D>Y | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1243098721 CA362718218 |
436 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA362718206 rs1199292901 |
437 | P>L | No |
ClinGen gnomAD |
|
|
rs764870230 RCV001347975 CA3633494 COSM275966 |
439 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA3633460 rs769213984 |
444 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs556048925 CA3633461 |
444 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 448 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769938480 CA3633457 |
448 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746051642 CA3633456 |
449 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1581671732 CA917675363 |
449 | N>LI* | No |
ClinGen Ensembl |
|
|
CA362717301 rs1279712239 |
449 | N>S | No |
ClinGen gnomAD |
|
|
rs1215400811 CA362717296 |
450 | H>Y | No |
ClinGen TOPMed |
|
|
rs200057744 CA134107901 |
451 | S>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3633455 RCV001346177 rs200057744 |
451 | S>L | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA3633454 rs193132857 |
452 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA134107870 rs547372600 |
452 | T>K | No |
ClinGen 1000Genomes gnomAD |
|
|
rs547372600 CA362717284 |
452 | T>R | No |
ClinGen 1000Genomes gnomAD |
|
|
CA134107855 rs1037177330 |
454 | E>* | No |
ClinGen Ensembl |
|
|
rs1554168121 CA3633451 |
454 | E>G | No |
ClinGen Ensembl |
|
|
rs1367455186 CA362717268 |
455 | N>Y | No |
ClinGen TOPMed |
|
|
RCV000998535 rs935003657 |
456 | K>missing | No |
ClinVar dbSNP |
|
|
CA3633450 rs777674662 |
456 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1427025580 CA362717249 |
457 | S>R | No |
ClinGen gnomAD |
|
|
CA362717234 rs1561946245 |
460 | A>T | No |
ClinGen Ensembl |
|
|
CA3633448 rs146071625 |
461 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA134107817 rs868047023 |
462 | T>I | No |
ClinGen Ensembl |
|
|
rs754612195 CA3633447 |
463 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1581671482 CA362717216 |
463 | S>F | No |
ClinGen Ensembl |
|
|
CA3633446 rs754612195 |
463 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362717173 rs1290965546 |
470 | L>* | No |
ClinGen TOPMed gnomAD |
|
|
CA3633442 rs760262193 RCV001244347 |
472 | T>A | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA134107801 rs369794041 |
473 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA362717123 rs1385550312 |
478 | Q>R | No |
ClinGen gnomAD |
|
|
CA3633439 rs763510409 |
479 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1452637888 CA565827431 |
480 | Y>* | No |
ClinGen gnomAD |
|
|
CA362717097 rs1239811074 |
481 | L>F | No |
ClinGen TOPMed |
|
|
CA362717076 rs1300025062 |
484 | S>* | No |
ClinGen gnomAD |
|
|
CA3633437 rs770170708 |
485 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3633436 RCV001212594 rs759716806 |
485 | R>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs776906266 CA3633435 |
487 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362717049 rs1395561874 |
489 | G>R | No |
ClinGen gnomAD |
|
|
rs776804120 CA3633416 |
490 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1316407297 CA362716044 |
491 | N>D | No |
ClinGen gnomAD |
|
|
CA362716011 rs1436545305 RCV001308518 |
493 | K>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs766593207 CA3633415 |
494 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3633413 rs773304876 |
494 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3633414 rs773304876 |
494 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000964999 rs375070639 |
494 | K>missing | No |
ClinVar dbSNP |
|
|
CA3633412 rs772119574 |
495 | V>L | No |
ClinGen ExAC |
|
|
rs1214689453 CA362715934 |
498 | I>R | No |
ClinGen gnomAD |
|
|
CA362715923 rs1302256359 |
499 | A>G | No |
ClinGen gnomAD |
|
|
CA362715872 rs1400407115 |
503 | E>K | No |
ClinGen gnomAD |
|
|
rs868455090 CA134102211 |
504 | I>M | No |
ClinGen Ensembl |
|
|
CA3633409 rs752021255 |
506 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375261960 CA3633406 CA3633407 |
507 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1287046402 CA362715813 |
507 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA362715787 rs1361421926 |
508 | T>I | No |
ClinGen Ensembl |
|
|
rs779951600 CA3633405 |
509 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3633403 rs745490858 |
513 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 520 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001207844 rs192591726 CA3633400 |
521 | V>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA362715607 rs990185904 |
521 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA134102100 rs990185904 |
521 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1343692121 CA362715591 |
522 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 523 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1485853067 CA362715585 |
523 | A>T | No |
ClinGen gnomAD |
|
|
rs765787091 CA3633399 |
523 | A>V | No |
ClinGen ExAC gnomAD |
|
|
RCV001228962 rs1773372603 |
530 | S>G | No |
ClinVar dbSNP |
|
|
CA362715475 rs945583313 |
531 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs755373628 CA362715467 |
531 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs755373628 CA3633398 |
531 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA134102087 rs945583313 |
531 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA362715447 rs1227804755 |
532 | A>G | No |
ClinGen gnomAD |
|
|
CA362714675 rs1354222180 |
537 | S>N | No |
ClinGen TOPMed |
|
|
CA134098731 rs951605580 |
538 | Y>C | No |
ClinGen Ensembl |
|
|
rs761680845 CA3633369 |
541 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761897291 CA3633367 |
542 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1278500918 CA362714577 |
545 | G>R | No |
ClinGen gnomAD |
|
|
CA362714562 rs1436110982 |
546 | Y>C | No |
ClinGen gnomAD |
|
|
rs79544660 CA362714548 |
547 | I>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1347044315 CA362714552 |
547 | I>V | No |
ClinGen gnomAD |
|
|
CA3633365 rs371838435 |
548 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000903643 rs56217305 CA3633363 VAR_042010 |
550 | F>L | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA362714521 rs1403016551 |
550 | F>Y | No |
ClinGen gnomAD |
|
|
CA362714503 rs1158568753 |
552 | K>E | No |
ClinGen gnomAD |
|
|
rs759417469 CA3633362 |
553 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776221542 CA3633361 |
553 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA134098692 rs556910057 |
556 | Q>H | No |
ClinGen Ensembl |
|
|
rs746594889 CA3633359 |
556 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA362714425 rs1242554735 |
558 | A>V | No |
ClinGen gnomAD |
|
|
rs1174876068 CA362714419 |
559 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA134098688 rs1006561135 |
560 | Q>R | No |
ClinGen Ensembl |
|
|
rs1032272680 CA134098676 |
565 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1203779518 CA362714346 |
565 | A>V | No |
ClinGen gnomAD |
|
|
CA362714343 rs1581638260 |
566 | P>S | No |
ClinGen Ensembl |
|
|
rs771453698 CA3633357 |
567 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1367333036 RCV001309529 COSM1071829 CA362714295 |
570 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA3633354 rs756558713 |
571 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs770320899 CA3633335 |
576 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs770320899 CA362719472 |
576 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs757841911 CA134141081 |
579 | K>N | No |
ClinGen Ensembl |
|
|
rs1180802956 CA362719430 |
580 | T>A | No |
ClinGen gnomAD |
|
|
rs199594233 CA362719410 |
582 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3633332 rs199594233 RCV000523461 |
582 | R>W | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA362719403 rs1368674924 |
583 | G>R | No |
ClinGen TOPMed |
|
| rs1561922707 | 584 | Q>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1300400692 CA362719395 |
584 | Q>K | No |
ClinGen gnomAD |
|
|
CA362719360 rs1247320073 RCV001245962 |
586 | S>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs553591095 RCV001321711 CA3633329 |
588 | R>C | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs758636733 CA3633328 |
588 | R>H | No |
ClinGen ExAC TOPMed |
|
|
rs752846705 CA3633327 |
589 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362719329 rs1300112375 |
590 | Y>D | No |
ClinGen gnomAD |
|
|
rs147251038 CA3633325 |
592 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753694997 CA3633324 |
592 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA3633322 rs760381134 |
594 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs767167233 CA3633320 |
596 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3633321 rs180826550 |
596 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3633319 rs761401422 |
599 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA362719225 rs1340734588 |
599 | I>V | No |
ClinGen TOPMed |
|
|
CA134141041 rs1054515943 |
601 | N>S | No |
ClinGen Ensembl |
|
|
rs768134966 CA3633317 |
602 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777002916 CA3633315 |
602 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3633316 rs777002916 |
602 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1490967908 CA362719170 |
604 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs747349238 CA3633314 |
605 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1568140 CA3633313 rs747349238 |
605 | P>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1244785387 CA362719140 |
607 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs778235109 CA3633312 |
607 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222250937 CA362719124 |
608 | S>L | No |
ClinGen gnomAD |
|
|
CA3633309 rs748349220 |
611 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3633307 rs377372773 |
612 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1454299493 CA362719064 |
614 | D>N | No |
ClinGen gnomAD |
|
|
CA362719041 rs1346432369 |
615 | W>* | No |
ClinGen gnomAD |
|
|
rs766229047 CA3633305 |
616 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs567613995 CA362719037 |
616 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3633306 rs567613995 |
616 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1429572372 CA362719029 |
617 | A>T | No |
ClinGen gnomAD |
|
|
CA362719001 rs1581624496 |
619 | Y>D | No |
ClinGen Ensembl |
|
|
CA3633303 rs767273634 |
623 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA3633302 rs767273634 |
623 | R>Q | Variant assessed as Somatic; 4.636e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs375794836 CA3633304 |
623 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362718947 rs1581624450 |
624 | R>E | No |
ClinGen Ensembl |
1 associated diseases with P20794
[MIM: 614181]: Retinitis pigmentosa 62 (RP62)
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:21825139, ECO:0000269|PubMed:21835304}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:21825139, ECO:0000269|PubMed:21835304}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for P20794
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | TATA-box binding protein, conserved site | 143 - 192 | IPR030491 |
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 | |
11 GO annotations of cellular component
| Name | Definition |
|---|---|
| axoneme | The bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. |
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| cilium | A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| midbody | A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis. |
| mitotic spindle | A spindle that forms as part of mitosis. Mitotic and meiotic spindles contain distinctive complements of proteins associated with microtubules. |
| motile cilium | A cilium which may have a variable arrangement of axonemal microtubules and also contains molecular motors. It may beat with a whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface, such as on epithelial cells that line the lumenal ducts of various tissues; or they may display a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization. Motile cilia can be found in single as well as multiple copies per cell. |
| 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. |
| photoreceptor connecting cilium | The portion of the photoreceptor cell cilium linking the photoreceptor inner and outer segments. It's considered to be equivalent to the ciliary transition zone. |
| photoreceptor inner segment | The inner segment of a vertebrate photoreceptor containing mitochondria, ribosomes and membranes where opsin molecules are assembled and passed to be part of the outer segment discs. |
| photoreceptor outer segment | The outer segment of a vertebrate photoreceptor that contains a stack of membrane discs embedded with photoreceptor proteins. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| metal ion binding | Binding to a metal ion. |
| protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
| 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. |
| transcription coactivator activity | A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| cilium assembly | The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. |
| 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. |
| intraciliary transport | The bidirectional movement of large protein complexes along microtubules within a cilium, mediated by motor proteins. |
| negative regulation of non-motile cilium assembly | Any process that stops, prevents or reduces the frequency, rate or extent of non-motile cilium assembly. |
| non-motile cilium assembly | The aggregation, arrangement and bonding together of a set of components to form a non-motile cilium. |
| photoreceptor cell maintenance | Any process preventing the degeneration of the photoreceptor, a specialized cell type that is sensitive to light. |
| protein autophosphorylation | The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation). |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
20 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9UQ07 | MOK | MAPK/MAK/MRK overlapping kinase | Homo sapiens (Human) | PR |
| Q8TD08 | MAPK15 | Mitogen-activated protein kinase 15 | Homo sapiens (Human) | SS |
| P45984 | MAPK9 | Mitogen-activated protein kinase 9 | Homo sapiens (Human) | SS |
| P45983 | MAPK8 | Mitogen-activated protein kinase 8 | Homo sapiens (Human) | EV |
| P53779 | MAPK10 | Mitogen-activated protein kinase 10 | Homo sapiens (Human) | EV |
| Q9UBE8 | NLK | Serine/threonine-protein kinase NLK | Homo sapiens (Human) | SS |
| P27361 | MAPK3 | Mitogen-activated protein kinase 3 | Homo sapiens (Human) | SS |
| P28482 | MAPK1 | Mitogen-activated protein kinase 1 | Homo sapiens (Human) | EV |
| P31152 | MAPK4 | Mitogen-activated protein kinase 4 | Homo sapiens (Human) | SS |
| Q16659 | MAPK6 | Mitogen-activated protein kinase 6 | Homo sapiens (Human) | SS |
| Q13164 | MAPK7 | Mitogen-activated protein kinase 7 | Homo sapiens (Human) | SS |
| P53778 | MAPK12 | Mitogen-activated protein kinase 12 | Homo sapiens (Human) | SS |
| O15264 | MAPK13 | Mitogen-activated protein kinase 13 | Homo sapiens (Human) | SS |
| Q15759 | MAPK11 | Mitogen-activated protein kinase 11 | Homo sapiens (Human) | SS |
| Q16539 | MAPK14 | Mitogen-activated protein kinase 14 | Homo sapiens (Human) | SS |
| Q9JKV2 | Cilk1 | Serine/threonine-protein kinase ICK | Mus musculus (Mouse) | PR |
| Q9WVS4 | Mok | MAPK/MAK/MRK overlapping kinase | Mus musculus (Mouse) | PR |
| Q04859 | Mak | Serine/threonine-protein kinase MAK | Mus musculus (Mouse) | PR |
| P20793 | Mak | Serine/threonine-protein kinase MAK | Rattus norvegicus (Rat) | PR |
| P43294 | MHK | Serine/threonine-protein kinase MHK | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNRYTTMRQL | GDGTYGSVLM | GKSNESGELV | AIKRMKRKFY | SWDECMNLRE | VKSLKKLNHA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NVIKLKEVIR | ENDHLYFIFE | YMKENLYQLM | KDRNKLFPES | VIRNIMYQIL | QGLAFIHKHG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FFHRDMKPEN | LLCMGPELVK | IADFGLAREL | RSQPPYTDYV | STRWYRAPEV | LLRSSVYSSP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IDVWAVGSIM | AELYMLRPLF | PGTSEVDEIF | KICQVLGTPK | KSDWPEGYQL | ASSMNFRFPQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| CVPINLKTLI | PNASNEAIQL | MTEMLNWDPK | KRPTASQALK | HPYFQVGQVL | GPSSNHLESK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QSLNKQLQPL | ESKPSLVEVE | PKPLPDIIDQ | VVGQPQPKTS | QQPLQPIQPP | QNLSVQQPPK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QQSQEKPPQT | LFPSIVKNMP | TKPNGTLSHK | SGRRRWGQTI | FKSGDSWEEL | EDYDFGASHS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KKPSMGVFKE | KRKKDSPFRL | PEPVPSGSNH | STGENKSLPA | VTSLKSDSEL | STAPTSKQYY |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LKQSRYLPGV | NPKKVSLIAS | GKEINPHTWS | NQLFPKSLGP | VGAELAFKRS | NAGNLGSYAT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| YNQSGYIPSF | LKKEVQSAGQ | RIHLAPLNAT | ASEYTWNTKT | GRGQFSGRTY | NPTAKNLNIV |
| 610 | 620 | ||||
| NRAQPIPSVH | GRTDWVAKYG | GHR |