Q8IXL6
PR
Gene name |
FAM20C |
Protein name |
Extracellular serine/threonine protein kinase FAM20C |
Names |
Dentin matrix protein 4, DMP-4, Golgi casein kinase, Golgi-enriched fraction casein kinase, GEF-CK |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:56975 |
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
478-500 (Activation loop from InterPro)
Target domain |
354-565 (Kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
2 structures for Q8IXL6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5YH3 | X-ray | 330 A | C/D | 141-578 | PDB |
| AF-Q8IXL6-F1 | Predicted | AlphaFoldDB |
550 variants for Q8IXL6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA4108897 RCV002564106 rs767408183 RCV001246610 |
102 | L>I | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001349767 rs751592577 RCV002493798 CA152256828 |
153 | G>D | Lethal osteosclerotic bone dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV003160333 RCV001044976 rs201436002 CA4108952 |
214 | S>Y | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002501492 RCV000894361 CA4108976 rs116181849 |
244 | P>L | Lethal osteosclerotic bone dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002540765 CA4108979 rs61730252 RCV000907610 |
245 | A>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA250057 RCV000023861 rs796051874 |
246 | I>N | Lethal osteosclerotic bone dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
| VAR_073660 | 258 | I>N | RNS [UniProt] | Yes | UniProt |
|
CA250059 RCV000023862 RCV002513209 rs796051875 |
266 | G>R | Lethal osteosclerotic bone dysplasia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs778899041 VAR_073661 CA4109012 |
268 | T>M | Variant assessed as Somatic; 5.532e-05 impact. RNS; mild non-lethal form; decreased protein kinase activity [NCI-TCGA, UniProt] | Yes |
ClinGen UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs779708323 CA152235964 VAR_073662 |
280 | G>R | Variant assessed as Somatic; 0.0 impact. RNS [NCI-TCGA, UniProt] | Yes |
ClinGen UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000023863 rs797044462 VAR_073663 CA250061 |
328 | P>S | Lethal osteosclerotic bone dysplasia RNS; mild non-lethal form; decreased protein kinase activity; FAM20A is still able to increase remaining protein kinase activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs267606795 CA250010 RCV000001078 |
365 | G>R | Lethal osteosclerotic bone dysplasia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA250015 RCV000001082 rs796051852 VAR_037530 |
379 | G>E | Lethal osteosclerotic bone dysplasia RNS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_037531 | 379 | G>R | RNS [UniProt] | Yes | UniProt |
|
CA250012 rs796051849 VAR_037532 RCV000001079 |
388 | L>R | Lethal osteosclerotic bone dysplasia RNS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA4109135 RCV000891056 RCV000266473 RCV000496013 rs148276213 |
410 | S>T | Lethal osteosclerotic bone dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_073664 | 451 | D>N | RNS; mild non-lethal form; decreased protein kinase activity [UniProt] | Yes | UniProt |
|
RCV002559251 rs1232400875 RCV001196925 CA366525754 |
459 | R>C | Lethal osteosclerotic bone dysplasia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002512632 VAR_037533 RCV000001080 rs796051850 CA250013 |
549 | R>W | Lethal osteosclerotic bone dysplasia RNS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000511478 rs371584776 CA366526439 |
560 | C>* | Lethal osteosclerotic bone dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs145750007 RCV002500462 RCV000224271 RCV000173883 CA200752 |
561 | V>M | Lethal osteosclerotic bone dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001518334 rs36139924 RCV001544313 RCV000173885 CA200756 |
564 | N>D | Lethal osteosclerotic bone dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002561161 RCV002480667 rs36139924 CA4109222 RCV001204653 |
564 | N>H | Lethal osteosclerotic bone dysplasia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA152256570 rs1019979660 |
3 | M>T | No |
ClinGen TOPMed |
|
|
rs1182331402 CA366522016 |
3 | M>V | No |
ClinGen gnomAD |
|
|
rs1440720706 CA366522028 |
4 | M>I | No |
ClinGen gnomAD |
|
|
rs1384956736 CA366522026 |
4 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1160620385 CA366522034 |
5 | L>P | No |
ClinGen gnomAD |
|
|
rs1346013518 CA366522039 |
6 | V>A | No |
ClinGen TOPMed |
|
|
CA152256575 rs867275674 |
6 | V>M | No |
ClinGen Ensembl |
|
|
rs1362279529 CA366522043 |
7 | R>C | No |
ClinGen gnomAD |
|
|
RCV000898387 CA4108883 rs73251052 |
8 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1404499057 CA366522060 |
10 | R>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 11 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1367064980 CA366522066 |
11 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1367064980 CA366522065 |
11 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA366522072 rs1394178678 |
12 | L>V | No |
ClinGen gnomAD |
|
|
rs1377292818 CA366522079 |
13 | I>F | No |
ClinGen gnomAD |
|
|
rs1315954178 CA366522095 |
15 | M>I | No |
ClinGen gnomAD |
|
|
CA366522093 rs1378663921 |
15 | M>T | No |
ClinGen TOPMed |
|
|
rs1472565183 CA366522091 |
15 | M>V | No |
ClinGen TOPMed |
|
|
RCV000224610 CA200565 rs150401144 RCV000173495 |
16 | V>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA366522120 rs1205983424 |
19 | V>G | No |
ClinGen TOPMed |
|
|
rs529612835 CA4108885 |
19 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366522133 rs1266031345 |
21 | C>* | No |
ClinGen TOPMed |
|
|
rs1243082941 CA366522132 |
21 | C>Y | No |
ClinGen gnomAD |
|
|
rs1583268988 CA366522236 |
24 | H>P | No |
ClinGen Ensembl |
|
|
CA366522257 rs1180894013 |
24 | H>Q | No |
ClinGen gnomAD |
|
|
rs1406312163 CA366522264 |
25 | I>F | No |
ClinGen gnomAD |
|
|
rs1177102899 CA366522272 |
26 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA366522280 rs1379396147 |
26 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA366522291 rs1175538122 |
27 | L>R | No |
ClinGen gnomAD |
|
|
rs1448986066 CA366522316 |
29 | L>P | No |
ClinGen gnomAD |
|
|
CA366522321 rs1329022451 |
30 | L>V | No |
ClinGen gnomAD |
|
|
rs1297675158 CA366522332 |
31 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1386948451 CA366522353 |
32 | R>S | No |
ClinGen gnomAD |
|
|
CA366522349 rs1372404570 |
32 | R>W | No |
ClinGen gnomAD |
|
|
CA366522356 rs1302980313 |
33 | L>M | No |
ClinGen gnomAD |
|
|
CA366522368 rs1309869575 |
33 | L>R | No |
ClinGen gnomAD |
|
|
CA366522379 rs1222374540 |
34 | E>D | No |
ClinGen gnomAD |
|
|
rs991008592 CA152256594 |
34 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1295639860 CA366522399 |
35 | R>P | No |
ClinGen TOPMed |
|
|
rs1319193067 CA366522441 |
39 | R>G | No |
ClinGen gnomAD |
|
|
rs1201126242 CA366522478 |
41 | S>A | No |
ClinGen gnomAD |
|
|
CA366522490 rs1480525217 |
42 | G>R | No |
ClinGen gnomAD |
|
|
rs972770227 CA152256608 |
42 | G>V | No |
ClinGen TOPMed |
|
|
rs1269745518 CA366522506 |
43 | E>A | No |
ClinGen gnomAD |
|
|
rs918613772 CA152256620 |
43 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1451571868 CA366522681 |
51 | P>L | No |
ClinGen TOPMed |
|
|
CA366522704 rs1188160582 |
53 | A>V | No |
ClinGen TOPMed |
|
|
CA152256629 rs549713327 |
54 | E>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA366522706 rs549713327 |
54 | E>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA366522772 rs1344168203 |
57 | A>T | No |
ClinGen TOPMed |
|
|
CA366522815 rs1232380605 |
59 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA366522817 rs1232380605 |
59 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1339643180 CA366522823 |
60 | W>* | No |
ClinGen TOPMed |
|
|
CA366522845 rs1168278985 |
61 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA152256653 rs911141652 |
62 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA152256661 rs942578514 |
62 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs942578514 CA152256658 |
62 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA152256666 rs900977458 |
63 | V>I | No |
ClinGen TOPMed |
|
|
rs747416986 CA4108890 |
64 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV002518145 rs538469200 RCV000270050 CA4108891 |
67 | P>H | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs538469200 CA366522929 |
67 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA152256681 rs904224674 |
68 | G>E | No |
ClinGen TOPMed |
|
|
CA366522930 rs1278252934 |
68 | G>R | No |
ClinGen gnomAD |
|
|
rs1278252934 CA366522932 |
68 | G>W | No |
ClinGen gnomAD |
|
|
rs1178602593 CA366522945 |
69 | E>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 69 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366522954 rs999860915 |
70 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA152256682 rs999860915 |
70 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1252366260 CA366522970 |
71 | P>R | No |
ClinGen TOPMed |
|
|
CA366522985 rs1222766107 |
73 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA152256684 rs1034392427 |
74 | S>A | No |
ClinGen TOPMed |
|
|
CA366523032 rs1489915882 |
77 | A>D | No |
ClinGen gnomAD |
|
|
rs1267666452 CA366523024 |
77 | A>T | No |
ClinGen gnomAD |
|
|
CA366523038 rs1199024862 |
78 | G>S | No |
ClinGen gnomAD |
|
|
rs556779335 CA366523063 |
79 | D>E | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1184645302 CA366523066 |
80 | A>T | No |
ClinGen gnomAD |
|
|
CA366523071 rs1418711674 |
80 | A>V | No |
ClinGen gnomAD |
|
|
CA366523081 rs1424391151 |
81 | G>A | No |
ClinGen gnomAD |
|
|
CA366523085 rs1273259220 |
82 | W>* | No |
ClinGen TOPMed |
|
|
CA366523096 rs1363537529 |
83 | P>S | No |
ClinGen gnomAD |
|
|
RCV000224835 rs190382829 CA4108893 |
84 | N>K | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA366523106 rs1423570411 |
84 | N>S | No |
ClinGen gnomAD |
|
|
CA366523138 rs1361833774 |
87 | T>R | No |
ClinGen gnomAD |
|
|
rs13230032 CA152256701 |
88 | L>F | No |
ClinGen Ensembl |
|
|
rs1428045179 CA366523152 |
89 | R>H | No |
ClinGen gnomAD |
|
|
CA366523175 rs1361852648 |
91 | L>P | No |
ClinGen gnomAD |
|
|
CA366523237 rs1242978606 |
97 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA366523254 rs1229447918 |
98 | P>R | No |
ClinGen gnomAD |
|
|
rs1169883497 CA366523262 |
99 | S>Y | No |
ClinGen gnomAD |
|
|
rs1221964833 CA366523270 |
100 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
RCV001238579 rs1785686950 |
107 | L>Q | No |
ClinVar dbSNP |
|
|
CA4108898 rs773210635 |
107 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA4108900 rs760493570 |
108 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA366523348 rs1222900486 |
108 | E>D | No |
ClinGen Ensembl |
|
|
rs753268141 CA366523345 |
108 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA366523343 rs760493570 |
108 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4108899 rs760493570 |
108 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4108901 rs753268141 |
108 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA366523393 rs1383109685 |
111 | P>L | No |
ClinGen gnomAD |
|
|
rs1406196632 CA366523405 |
113 | A>T | No |
ClinGen TOPMed |
|
|
CA366523414 rs1381777447 |
114 | A>S | No |
ClinGen gnomAD |
|
|
rs1161249572 CA366523418 |
114 | A>V | No |
ClinGen TOPMed |
|
|
rs1562357102 RCV000722334 |
115 | E>missing | No |
ClinVar dbSNP |
|
|
CA366523432 rs1316993591 |
115 | E>D | No |
ClinGen gnomAD |
|
|
CA4108902 rs754720957 |
115 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA366523420 rs754720957 |
115 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
RCV000722335 rs1562357112 |
116 | P>missing | No |
ClinVar dbSNP |
|
|
CA366523439 rs764977929 |
116 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM402837 rs764977929 CA4108903 |
116 | P>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs753171820 CA4108904 |
119 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1380960628 CA366523498 |
120 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA366523502 rs1245703345 |
120 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1353091889 CA366523535 |
122 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 124 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1312878711 CA366523557 |
124 | R>Q | No |
ClinGen gnomAD |
|
|
CA366523552 rs1289342405 |
124 | R>W | No |
ClinGen TOPMed |
|
|
CA366523575 rs1241206174 |
125 | D>E | No |
ClinGen gnomAD |
|
|
rs1349120717 CA366523597 |
126 | P>L | No |
ClinGen TOPMed |
|
|
rs537411703 CA4108905 |
127 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366523607 rs1583269682 |
127 | G>V | No |
ClinGen Ensembl |
|
|
rs1437202079 CA366523611 |
128 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA366523624 rs1321896914 |
129 | L>R | No |
ClinGen TOPMed |
|
|
CA366523621 rs539116395 |
129 | L>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA366523644 rs1239831432 |
130 | R>K | Variant assessed as Somatic; 0.0001468 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA366523665 rs1404967666 |
131 | P>H | No |
ClinGen TOPMed |
|
|
rs1562357224 CA366523685 |
132 | H>Q | No |
ClinGen Ensembl |
|
|
CA366523715 rs1157671208 |
134 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA152256785 rs868137814 |
134 | P>S | No |
ClinGen Ensembl |
|
|
CA366523718 rs1425201953 |
135 | A>T | No |
ClinGen gnomAD |
|
|
CA366523736 rs1415699255 |
136 | H>P | No |
ClinGen gnomAD |
|
|
rs1404527703 CA366523744 |
137 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA152256787 rs1043428625 |
137 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs942650241 CA152256789 |
138 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs942650241 CA366523766 |
138 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1277818057 CA366523794 |
141 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1440241738 CA366523807 |
142 | D>H | No |
ClinGen gnomAD |
|
|
rs1345734420 CA366523832 |
143 | P>L | No |
ClinGen gnomAD |
|
|
rs531384573 CA152256792 |
143 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA152256796 RCV001224387 rs996631258 |
145 | P>L | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA366523845 rs1225425996 |
145 | P>S | No |
ClinGen gnomAD |
|
|
rs1322703343 CA366523851 |
146 | R>G | No |
ClinGen gnomAD |
|
|
CA4108907 rs747581446 |
146 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1029026754 CA152256817 |
147 | R>L | No |
ClinGen Ensembl |
|
|
rs945854813 CA152256822 |
148 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA366523874 rs945854813 |
148 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA366523909 rs1246928218 |
151 | P>S | No |
ClinGen gnomAD |
|
|
CA4108908 rs757656546 |
154 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1172053400 CA366523944 |
155 | G>S | No |
ClinGen gnomAD |
|
|
CA366523954 rs1399021673 |
155 | G>V | No |
ClinGen gnomAD |
|
|
CA366523993 rs1328685187 |
157 | D>E | No |
ClinGen gnomAD |
|
|
rs1408585517 CA366523978 |
157 | D>H | No |
ClinGen gnomAD |
|
|
rs1322298845 CA366524005 |
158 | A>G | No |
ClinGen TOPMed |
|
|
rs1281421251 CA366524028 |
159 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1345005390 CA366524034 |
160 | L>V | No |
ClinGen gnomAD |
|
|
rs1195003834 CA366524068 |
162 | A>V | No |
ClinGen gnomAD |
|
|
CA4108910 rs745916292 |
163 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1171433043 CA366524095 |
164 | L>M | No |
ClinGen TOPMed |
|
|
CA366524140 rs1267506928 |
165 | F>L | No |
ClinGen gnomAD |
|
|
CA366524159 rs1194953706 |
166 | E>D | No |
ClinGen gnomAD |
|
|
rs1477874798 CA366524146 |
166 | E>Q | No |
ClinGen gnomAD |
|
|
rs1375288339 CA366524182 |
167 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA366524194 rs1249432957 |
168 | P>R | No |
ClinGen TOPMed |
|
|
CA366524189 rs1474747261 |
168 | P>S | No |
ClinGen gnomAD |
|
|
rs1463869841 CA366524203 |
169 | L>P | No |
ClinGen TOPMed |
|
|
CA366524197 rs1391952907 |
169 | L>V | No |
ClinGen gnomAD |
|
|
rs1211495531 CA366524221 |
170 | Y>C | No |
ClinGen TOPMed |
|
|
CA366524212 rs1241858697 |
170 | Y>H | No |
ClinGen TOPMed |
|
|
CA152256888 rs973094493 |
171 | R>Q | No |
ClinGen Ensembl |
|
|
CA366524265 rs749450491 |
173 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775673987 CA4108912 |
173 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4108913 rs749450491 |
173 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs969071982 CA152256906 |
174 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1297906375 CA366524314 |
175 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1226660428 CA366524333 |
176 | P>R | No |
ClinGen gnomAD |
|
|
rs1324602312 CA366524321 |
176 | P>S | No |
ClinGen gnomAD |
|
|
CA366524341 rs1361365942 |
177 | L>F | No |
ClinGen gnomAD |
|
|
rs771901909 CA4108914 |
179 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366524381 rs1488292901 |
180 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 181 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1428341991 CA366524405 |
182 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1025732619 CA152256953 |
185 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA366524445 rs777240362 |
185 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs777240362 CA152256960 |
185 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1193138044 CA366524452 |
186 | V>M | No |
ClinGen gnomAD |
|
|
CA366524468 rs1446839999 |
187 | N>Y | No |
ClinGen gnomAD |
|
|
CA366524477 rs1161835403 |
188 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs761779092 CA152256961 |
188 | S>R | No |
ClinGen gnomAD |
|
|
CA152256980 rs866515009 |
191 | R>G | No |
ClinGen Ensembl |
|
|
CA366524521 rs1391477527 |
192 | L>F | No |
ClinGen TOPMed |
|
|
CA4108917 rs770746273 |
192 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1382928976 CA366524526 |
193 | S>R | No |
ClinGen gnomAD |
|
|
rs1381535031 CA366524536 |
193 | S>R | No |
ClinGen gnomAD |
|
|
rs1300583763 CA366524540 |
194 | P>A | No |
ClinGen gnomAD |
|
|
rs776349784 CA4108918 |
194 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA366524580 rs1314194600 |
198 | E>K | No |
ClinGen gnomAD |
|
|
rs1353947235 CA366524624 |
200 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA152257019 rs866592884 |
201 | D>E | No |
ClinGen TOPMed |
|
|
rs794726946 CA238953 RCV000173494 |
202 | W>G | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA366524636 rs794726946 |
202 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs763622631 CA4108942 |
203 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs931803647 CA152226582 |
203 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA366517907 rs1343126201 |
204 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA366517906 rs1343126201 |
204 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA152226590 rs893863166 COSM1206304 |
204 | H>Y | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1283218553 CA366517910 |
205 | A>T | No |
ClinGen gnomAD |
|
|
rs755764751 CA4108944 |
205 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA152226610 rs1018023694 |
206 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1018023694 CA152226606 |
206 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs755298833 CA4108950 |
210 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4108951 rs187691945 |
211 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA366517951 rs1198520924 |
212 | F>I | No |
ClinGen gnomAD |
|
|
rs1562359466 CA366517963 |
213 | L>P | No |
ClinGen Ensembl |
|
|
CA4108953 rs201436002 |
214 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4108954 rs781096645 |
215 | P>R | No |
ClinGen ExAC gnomAD |
|
|
RCV000175916 rs61734970 RCV000957599 CA201678 CA4108957 |
216 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
|
rs1419392825 CA366517981 |
217 | E>A | No |
ClinGen TOPMed |
|
|
CA366517984 rs1403803062 |
217 | E>D | No |
ClinGen gnomAD |
|
|
RCV000912221 CA4108959 rs200962622 |
218 | A>V | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs761213707 CA4108963 |
220 | V>A | No |
ClinGen ExAC |
|
|
CA366517997 rs200381918 |
220 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4108962 rs200381918 |
220 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366518005 rs1307307736 |
221 | D>G | No |
ClinGen gnomAD |
|
|
CA4108964 rs766871133 |
222 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1035789154 CA152226709 |
223 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1035789154 CA366518018 |
223 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA366518017 rs1035789154 |
223 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs61732569 CA4108966 |
225 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs983478775 CA152226730 |
228 | K>N | No |
ClinGen TOPMed |
|
|
CA366518049 rs1486791265 |
228 | K>Q | No |
ClinGen gnomAD |
|
|
CA152226738 rs1016709355 |
230 | H>R | No |
ClinGen TOPMed |
|
|
rs1562359623 CA366518072 |
231 | I>V | No |
ClinGen Ensembl |
|
|
CA4108968 rs752896209 |
232 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA152226747 rs1014953797 |
233 | I>V | No |
ClinGen TOPMed |
|
|
rs758646891 COSM1088215 CA4108969 |
235 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA152226750 rs963699043 |
235 | R>W | No |
ClinGen TOPMed |
|
|
rs200225309 CA366518129 |
237 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1088216 CA4108971 rs200225309 |
237 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs756187054 CA4108972 |
238 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA366518170 rs749188339 |
241 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA4108974 rs749188339 |
241 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA4108975 rs768052338 |
242 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA366518182 rs1433444273 |
242 | H>Y | No |
ClinGen gnomAD |
|
|
rs949577912 CA152226767 |
243 | N>S | No |
ClinGen gnomAD |
|
|
rs116181849 CA4108977 |
244 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366518201 rs1404282377 |
244 | P>S | No |
ClinGen TOPMed |
|
|
rs574668517 CA152226811 |
246 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA152226803 rs796051874 |
246 | I>T | No |
ClinGen TOPMed |
|
|
rs374098657 CA4108981 RCV000497371 |
247 | E>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA152226818 rs773497163 |
248 | A>P | No |
ClinGen Ensembl |
|
| TCGA novel | 248 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777009380 COSM421505 CA366518285 |
251 | H>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA366518300 rs745637661 |
252 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA4108983 rs760049058 |
252 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366518309 rs1162708618 |
253 | L>H | No |
ClinGen gnomAD |
|
|
CA366518336 rs1185184378 |
255 | S>F | No |
ClinGen gnomAD |
|
|
rs904847120 CA366518365 |
258 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA152226853 rs904847120 |
258 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA366518377 rs1158809528 |
259 | T>A | No |
ClinGen gnomAD |
|
|
CA366518394 rs748161528 |
260 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1398458786 CA366518391 |
260 | S>T | No |
ClinGen gnomAD |
|
|
CA152226858 rs760967233 |
261 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA152235891 rs980809082 |
263 | M>V | No |
ClinGen TOPMed |
|
|
CA152235898 rs1022394315 |
264 | K>Q | No |
ClinGen TOPMed |
|
|
CA366519450 rs1478019765 |
265 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA366519452 rs1478019765 |
265 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA366519462 rs1408387402 |
266 | G>A | No |
ClinGen gnomAD |
|
|
rs796051875 CA152235913 |
266 | G>W | No |
ClinGen gnomAD |
|
| TCGA novel | 267 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4109011 rs754940345 |
267 | G>D | No |
ClinGen ExAC gnomAD |
|
| rs750171507 | 268 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA152235939 rs1002783777 |
273 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs777225574 CA4109015 |
274 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA152235948 rs575640418 |
275 | T>A | No |
ClinGen Ensembl |
|
|
CA366519559 rs1372873508 |
275 | T>N | No |
ClinGen TOPMed |
|
|
rs746686644 CA4109016 |
278 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA366519626 rs1166809016 |
279 | Y>N | No |
ClinGen TOPMed |
|
|
rs779708323 CA4109018 |
280 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA366519658 rs1490756881 |
281 | Q>H | No |
ClinGen gnomAD |
|
|
CA152235974 rs1035232018 |
282 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA366519667 rs1266112892 |
283 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 283 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366519699 rs1194558080 |
287 | M>K | No |
ClinGen gnomAD |
|
|
rs1451505408 CA366519696 |
287 | M>L | No |
ClinGen gnomAD |
|
|
CA4109071 rs747702836 |
289 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366522306 rs1330514508 |
290 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1330514508 CA366522303 |
290 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs537066502 CA4109072 |
291 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA152271027 rs1047709545 |
292 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA366522377 rs1362536071 |
293 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1362536071 CA366522376 |
293 | Q>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 293 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1227257731 CA366522382 |
293 | Q>R | No |
ClinGen gnomAD |
|
|
CA152271038 rs369253494 |
294 | E>D | No |
ClinGen ESP TOPMed |
|
|
rs1291811510 CA366522417 |
295 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA366522456 rs1212086591 |
297 | P>T | No |
ClinGen gnomAD |
|
|
CA152271074 CA366522504 rs1021833420 |
298 | D>E | No |
ClinGen TOPMed |
|
|
CA366522513 rs1202856404 |
299 | F>Y | No |
ClinGen TOPMed |
|
| rs1261053639 | 301 | Y>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA152271079 rs11546478 |
302 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1451598113 CA366522632 |
306 | E>K | No |
ClinGen gnomAD |
|
|
rs1189588515 CA366522698 |
309 | N>D | No |
ClinGen gnomAD |
|
|
CA366522759 rs1447833317 |
313 | A>S | No |
ClinGen gnomAD |
|
|
CA366522755 rs1447833317 |
313 | A>T | No |
ClinGen gnomAD |
|
|
CA366522832 rs1224600363 |
316 | H>Q | No |
ClinGen TOPMed |
|
|
CA4109075 rs1554254768 |
318 | D>G | No |
ClinGen ExAC |
|
| TCGA novel | 318 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1295412790 CA366522868 |
319 | R>G | No |
ClinGen TOPMed |
|
|
rs1229478935 CA366523738 |
321 | L>M | No |
ClinGen gnomAD |
|
|
CA366523759 rs1290748363 |
322 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1290748363 CA366523757 |
322 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs961109722 CA152273649 |
323 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA366523791 rs1228139412 |
324 | R>C | No |
ClinGen gnomAD |
|
|
CA152273654 rs972256876 |
324 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA366523800 rs868408490 |
325 | R>G | No |
ClinGen gnomAD |
|
|
CA366523804 rs1255493105 |
325 | R>Q | No |
ClinGen gnomAD |
|
|
CA152273657 rs868408490 |
325 | R>W | No |
ClinGen gnomAD |
|
|
rs1483428146 CA366523816 |
326 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 327 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs930775345 CA152273662 |
327 | P>R | No |
ClinGen Ensembl |
|
|
rs1176481802 CA366523846 |
329 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1379187241 CA366523868 |
330 | A>V | No |
ClinGen gnomAD |
|
|
CA366523872 rs983451162 |
331 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA152273718 rs983451162 |
331 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1396848726 CA366523886 |
332 | R>K | No |
ClinGen gnomAD |
|
|
CA366523915 rs1411112679 |
333 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1562394086 CA366523901 |
333 | M>K | No |
ClinGen Ensembl |
|
|
rs1583333540 CA366523927 |
334 | V>G | No |
ClinGen Ensembl |
|
|
rs926834990 CA152273723 |
334 | V>I | No |
ClinGen TOPMed |
|
|
CA152273728 rs538819921 |
340 | I>V | No |
ClinGen Ensembl |
|
|
RCV001225174 rs765745848 CA4109110 |
341 | R>W | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA152273731 rs1039529929 |
343 | V>I | No |
ClinGen TOPMed |
|
|
rs527843022 CA4109113 |
345 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759012718 CA366524114 |
345 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366524132 rs1381240534 |
346 | D>A | No |
ClinGen gnomAD |
|
|
CA366524124 rs1483948624 |
346 | D>N | No |
ClinGen TOPMed |
|
|
rs867143631 CA152273758 |
350 | W>* | No |
ClinGen TOPMed |
|
|
rs867143631 CA366524207 |
350 | W>C | No |
ClinGen TOPMed |
|
|
rs754919459 RCV000267164 CA10605729 |
366 | E>K | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| TCGA novel | 368 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1206305 CA366525130 rs1179705441 |
370 | Y>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs775983050 CA4109128 |
373 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322418265 CA366525168 |
376 | A>T | No |
ClinGen TOPMed |
|
|
rs1269245819 CA366525195 |
380 | K>T | No |
ClinGen gnomAD |
|
|
CA366525216 rs1562399356 |
383 | Q>* | No |
ClinGen Ensembl |
|
|
CA366525229 rs1024787453 |
385 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1024787453 CA152282170 |
385 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs751682204 CA152282181 |
387 | S>L | No |
ClinGen Ensembl |
|
|
rs1268459416 CA366525252 |
389 | A>S | No |
ClinGen gnomAD |
|
|
CA152282202 rs966635275 |
389 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs977964806 CA152282234 |
394 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA152282227 rs957382509 |
394 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1411038353 CA366525298 |
397 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA366525303 rs1422530861 |
398 | A>T | No |
ClinGen gnomAD |
|
|
CA152282259 rs981534239 |
402 | T>I | No |
ClinGen TOPMed |
|
|
CA366525343 rs1442008706 |
403 | W>* | No |
ClinGen TOPMed |
|
|
CA152282266 rs547184013 |
404 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1319019323 CA366525348 |
404 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1319019323 CA366525346 |
404 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4109133 rs547184013 |
404 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1219523869 CA366525353 |
405 | N>S | No |
ClinGen TOPMed |
|
|
rs1449071673 CA366525362 |
406 | P>L | No |
ClinGen gnomAD |
|
|
CA152282297 rs910943063 |
408 | R>Q | No |
ClinGen TOPMed |
|
|
rs1377083279 CA366525373 |
408 | R>W | No |
ClinGen gnomAD |
|
|
CA249935 rs730882220 COSM1206306 RCV000162130 |
409 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs909478150 CA152282326 |
409 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA366525380 rs148276213 |
410 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1267311515 CA366525394 |
412 | H>D | No |
ClinGen gnomAD |
|
|
CA366525411 rs1211828705 |
414 | R>C | No |
ClinGen gnomAD |
|
|
rs758159748 CA4109137 |
414 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1562399486 CA366525418 |
415 | K>R | No |
ClinGen Ensembl |
|
|
rs923417798 CA152282347 |
416 | K>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 418 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768006208 CA4109149 |
418 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA366525435 rs1157345537 |
418 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1583344501 CA366525456 |
419 | W>G | No |
ClinGen Ensembl |
|
|
CA366525464 rs1322127625 |
420 | E>Q | No |
ClinGen gnomAD |
|
|
rs1583344508 CA366525476 |
421 | V>G | No |
ClinGen Ensembl |
|
|
rs1039558550 CA366525477 |
422 | D>N | No |
ClinGen TOPMed |
|
|
rs1039558550 CA152283437 |
422 | D>Y | No |
ClinGen TOPMed |
|
|
rs1284322591 CA366525493 |
424 | D>A | No |
ClinGen gnomAD |
|
|
CA366525492 rs1226028430 |
424 | D>Y | No |
ClinGen gnomAD |
|
|
CA4109150 rs750557992 |
427 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366525525 rs1468323220 |
428 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA366525534 rs1583344539 |
429 | V>G | No |
ClinGen Ensembl |
|
|
rs1308986798 CA366525529 |
429 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA366525552 rs1250121731 |
432 | T>A | No |
ClinGen gnomAD |
|
|
CA4109151 rs756159495 |
433 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366525559 rs1445534600 |
433 | P>S | No |
ClinGen gnomAD |
|
|
CA152283475 rs530956875 |
434 | P>L | No |
ClinGen 1000Genomes |
|
|
CA366525581 rs1417157242 CA366525580 |
436 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA4109154 rs755206779 |
436 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1323452725 CA366525589 |
437 | S>R | No |
ClinGen TOPMed |
|
|
rs1457558109 CA366525593 |
438 | S>N | No |
ClinGen gnomAD |
|
|
rs1230084904 CA366525596 |
438 | S>R | No |
ClinGen gnomAD |
|
|
rs777751608 CA4109155 |
440 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868457988 CA152283521 |
440 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1562400042 CA366525627 |
443 | D>G | No |
ClinGen Ensembl |
|
|
CA366525622 rs1204236661 RCV001220779 |
443 | D>N | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA366525624 rs1204236661 |
443 | D>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 444 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366525630 rs1341763536 |
444 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1172475129 CA366525642 |
445 | M>I | No |
ClinGen TOPMed |
|
|
CA366525641 rs1450731375 |
445 | M>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 445 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366525659 rs1334830952 |
447 | M>I | No |
ClinGen gnomAD |
|
|
rs1291975672 CA366525653 |
447 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA366525654 rs1291975672 |
447 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs865798747 CA152283526 |
448 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs757324719 CA4109157 |
451 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA366525690 rs1256872384 |
452 | F>L | No |
ClinGen gnomAD |
|
|
rs1050563008 CA152283548 |
454 | M>I | No |
ClinGen TOPMed |
|
|
CA152283922 rs974360011 |
457 | M>T | No |
ClinGen Ensembl |
|
|
rs1333008356 CA366525737 |
457 | M>V | No |
ClinGen gnomAD |
|
|
rs1302691161 CA366525756 |
459 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA366525752 rs1232400875 |
459 | R>S | No |
ClinGen gnomAD |
|
|
CA366525759 rs1344057526 |
460 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA366525782 rs1207471045 |
463 | E>K | No |
ClinGen gnomAD |
|
|
rs1427793719 CA366525825 |
468 | F>S | No |
ClinGen TOPMed |
|
| TCGA novel | 469 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366525829 rs1480298527 |
469 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA366525830 rs1480298527 |
469 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
RCV000723212 rs1562400300 CA366525853 |
472 | T>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA366525859 rs1452119420 |
473 | F>Y | No |
ClinGen gnomAD |
|
|
rs1390471078 CA366525873 |
475 | I>F | No |
ClinGen gnomAD |
|
|
rs765546593 CA4109172 |
475 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390471078 CA366525872 |
475 | I>V | No |
ClinGen gnomAD |
|
|
CA366525882 rs1205630508 |
476 | H>R | No |
ClinGen TOPMed |
|
|
CA152283963 rs531017309 |
478 | D>E | No |
ClinGen 1000Genomes |
|
|
rs1262398876 CA366525915 |
481 | R>K | No |
ClinGen TOPMed |
|
|
CA366525923 rs1461947497 |
482 | G>E | No |
ClinGen gnomAD |
|
|
rs1332649309 CA366525950 |
484 | G>V | No |
ClinGen gnomAD |
|
|
rs536323098 CA152286617 |
487 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA152286623 rs992933788 |
488 | H>L | No |
ClinGen Ensembl |
|
|
CA366525978 rs139144760 |
488 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1483288850 CA366525982 |
489 | D>G | No |
ClinGen gnomAD |
|
|
CA152286641 rs946092624 |
489 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA366525980 rs946092624 |
489 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA152286656 rs1042913138 |
490 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA152286657 rs1042913138 |
490 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1187634108 CA366526027 |
496 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1187634108 CA366526026 |
496 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1402597796 CA366526028 |
497 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1157186074 CA366526040 |
498 | Q>H | No |
ClinGen gnomAD |
|
|
rs1344886391 CA366526054 |
500 | C>Y | No |
ClinGen gnomAD |
|
|
rs916440080 CA152288716 |
504 | R>Q | No |
ClinGen gnomAD |
|
|
CA366526096 rs1488895230 |
504 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA366526116 rs1453859774 |
507 | T>N | No |
ClinGen gnomAD |
|
|
rs1393577746 CA366526113 |
507 | T>P | No |
ClinGen gnomAD |
|
|
CA366526115 rs1393577746 |
507 | T>S | No |
ClinGen gnomAD |
|
|
CA366526134 rs1169359622 |
510 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4109198 rs754488338 |
510 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366526144 rs1327888990 |
512 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA366526142 rs1327888990 |
512 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA152288720 rs949233662 |
513 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA366526174 rs1175155196 |
517 | E>K | No |
ClinGen TOPMed |
|
|
rs1562403147 CA366526191 |
519 | Y>H | No |
ClinGen Ensembl |
|
|
CA366526238 rs1235071268 |
526 | A>T | No |
ClinGen gnomAD |
|
|
CA366526244 rs1271461052 |
527 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1213337125 CA366526256 COSM1622763 |
528 | S>C | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs747389881 CA366526265 |
530 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747389881 CA4109203 |
530 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4109202 rs778066437 |
530 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366526270 rs1216009504 |
531 | G>A | No |
ClinGen gnomAD |
|
|
rs1216009504 CA366526269 |
531 | G>E | No |
ClinGen gnomAD |
|
|
CA366526266 rs1583349837 |
531 | G>R | No |
ClinGen Ensembl |
|
|
CA366526278 rs1269498375 |
532 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 532 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4109204 rs546198723 |
533 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs902444471 CA152288795 |
534 | V>L | No |
ClinGen Ensembl |
|
|
CA4109205 rs777202451 |
536 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1267540009 CA366526307 |
537 | V>A | No |
ClinGen gnomAD |
|
|
CA366526303 rs1562403213 RCV000729625 |
537 | V>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs775685888 CA4109208 |
539 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4109209 rs763303277 |
541 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435391390 CA366526341 |
542 | H>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 542 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 543 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1339933210 CA366526347 |
544 | E>K | No |
ClinGen TOPMed |
|
|
CA366526355 rs1411929051 |
545 | A>T | No |
ClinGen gnomAD |
|
|
CA4109210 rs764403309 |
548 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1053394665 CA366526375 |
548 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs893467130 CA152288874 |
549 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4109211 rs772938056 |
551 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001517707 CA4109212 RCV000353679 rs150231592 |
551 | R>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA366526390 RCV001347265 rs150231592 |
551 | R>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs150231592 CA366526389 |
551 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753843872 CA152288908 |
552 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4109214 rs753843872 |
552 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 553 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754889644 CA366526395 |
553 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754889644 CA4109215 |
553 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1003516935 CA152288935 |
556 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
RCV001341689 CA152288948 rs960652603 |
557 | V>I | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| TCGA novel | 558 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4109219 rs562265099 |
558 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
RCV001517057 RCV000260505 CA4109218 rs62644536 |
558 | R>W | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs11546480 CA366526432 CA4109220 |
559 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA152289032 rs921080810 |
561 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1240298400 CA366526453 |
563 | R>G | No |
ClinGen gnomAD |
|
|
rs1240298400 CA366526454 |
563 | R>W | No |
ClinGen gnomAD |
|
|
CA152289037 rs752735023 |
564 | N>I | No |
ClinGen gnomAD |
|
|
rs752735023 CA366526462 |
564 | N>S | No |
ClinGen gnomAD |
|
|
CA152289049 rs912518346 |
565 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4109224 rs570803397 |
566 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA366526473 rs1208646717 |
566 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA366526476 rs369608827 |
567 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA366526475 rs369608827 |
567 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA152289055 rs369608827 |
567 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA366526482 rs1423382376 |
568 | S>G | No |
ClinGen gnomAD |
|
|
rs761899411 CA152289090 |
569 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000486633 rs761899411 CA4109226 |
569 | V>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs893498224 CA152289101 |
571 | D>E | No |
ClinGen gnomAD |
|
|
rs1173664360 CA366526501 |
571 | D>H | No |
ClinGen gnomAD |
|
|
CA366526518 rs547458228 |
573 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4109228 rs534686149 |
573 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs547458228 CA152289123 |
573 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA366526560 rs1309638659 |
579 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
rs554371375 CA4109229 |
580 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs565864949 CA366526569 |
581 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs565864949 CA152289135 |
581 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA366526576 rs537240435 |
582 | S>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4109231 rs537240435 |
582 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366526581 rs557222235 |
583 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4109233 rs557222235 |
583 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1248179012 CA366526585 |
584 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1248179012 CA366526586 |
584 | R>T | No |
ClinGen TOPMed gnomAD |
1 associated diseases with Q8IXL6
[MIM: 259775]: Raine syndrome (RNS)
An autosomal recessive osteosclerotic bone dysplasia with neonatal lethal outcome, although some patients survive into childhood. Clinical features include generalized increase in the density of all bones and a marked increase in the ossification of the skull, craniofacial dysplasia and microcephaly. {ECO:0000269|PubMed:17924334, ECO:0000269|PubMed:22582013, ECO:0000269|PubMed:25789606}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive osteosclerotic bone dysplasia with neonatal lethal outcome, although some patients survive into childhood. Clinical features include generalized increase in the density of all bones and a marked increase in the ossification of the skull, craniofacial dysplasia and microcephaly. {ECO:0000269|PubMed:17924334, ECO:0000269|PubMed:22582013, ECO:0000269|PubMed:25789606}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q8IXL6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | FAM20, C-terminal | 353 - 569 | IPR009581 |
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 |
|---|---|
| endoplasmic reticulum lumen | The volume enclosed by the membranes of the endoplasmic reticulum. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| integral component of Golgi membrane | The component of the Golgi membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| manganese ion binding | Binding to a manganese ion (Mn). |
| phosphotransferase activity, alcohol group as acceptor | Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to an alcohol group (acceptor). |
| protease binding | Binding to a protease or a peptidase. |
| 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 self-association | Binding to a domain within the same polypeptide. |
| 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. |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| biomineral tissue development | Formation of hard tissues that consist mainly of inorganic compounds, and also contain a small amounts of organic matrices that are believed to play important roles in their formation. |
| dentinogenesis | The process whose specific outcome is the formation of dentin, the mineralized tissue that constitutes the major bulk of teeth. Dentin may be one of three types: primary dentin, secondary dentin, and tertiary dentin. |
| enamel mineralization | The process in which calcium salts, mainly carbonated hydroxyapatite, are deposited in tooth enamel. |
| odontoblast differentiation | The process in which a relatively unspecialized cell of neural crest origin acquires the specialized features of an odontoblast, a cell on the outer surface of the dental pulp whose biological function is the creation of dentin. |
| osteoclast maturation | A developmental process, independent of morphogenetic (shape) change, that is required for an osteoclast cell to attain its fully functional state. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue, and which typically differentiates from monocytes. |
| positive regulation of bone mineralization | Any process that activates or increases the frequency, rate or extent of bone mineralization. |
| positive regulation of osteoblast differentiation | Any process that activates or increases the frequency, rate or extent of osteoblast differentiation. |
| post-translational protein modification | The process of covalently altering one or more amino acids in a protein after the protein has been completely translated and released from the ribosome. |
| 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 metabolic process | The chemical reactions and pathways involving a protein. Includes protein modification. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of fibroblast growth factor receptor signaling pathway | Any process that modulates the frequency, rate or extent of fibroblast growth factor receptor signaling pathway activity. |
| regulation of phosphorus metabolic process | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9XTW2 | famk-1 | Extracellular serine/threonine protein kinase CeFam20 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKMMLVRRFR | VLILMVFLVA | CALHIALDLL | PRLERRGARP | SGEPGCSCAQ | PAAEVAAPGW |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AQVRGRPGEP | PAASSAAGDA | GWPNKHTLRI | LQDFSSDPSS | NLSSHSLEKL | PPAAEPAERA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LRGRDPGALR | PHDPAHRPLL | RDPGPRRSES | PPGPGGDASL | LARLFEHPLY | RVAVPPLTEE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DVLFNVNSDT | RLSPKAAENP | DWPHAGAEGA | EFLSPGEAAV | DSYPNWLKFH | IGINRYELYS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RHNPAIEALL | HDLSSQRITS | VAMKSGGTQL | KLIMTFQNYG | QALFKPMKQT | REQETPPDFF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YFSDYERHNA | EIAAFHLDRI | LDFRRVPPVA | GRMVNMTKEI | RDVTRDKKLW | RTFFISPANN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ICFYGECSYY | CSTEHALCGK | PDQIEGSLAA | FLPDLSLAKR | KTWRNPWRRS | YHKRKKAEWE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VDPDYCEEVK | QTPPYDSSHR | ILDVMDMTIF | DFLMGNMDRH | HYETFEKFGN | ETFIIHLDNG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RGFGKYSHDE | LSILVPLQQC | CRIRKSTYLR | LQLLAKEEYK | LSLLMAESLR | GDQVAPVLYQ |
| 550 | 560 | 570 | 580 | ||
| PHLEALDRRL | RVVLKAVRDC | VERNGLHSVV | DDDLDTEHRA | ASAR |