Q658L1
PR
Gene name |
SAXO2 (FAM154B) |
Protein name |
Stabilizer of axonemal microtubules 2 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:283726 |
EC number |
|
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
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q658L1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q658L1-F1 | Predicted | AlphaFoldDB |
365 variants for Q658L1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs902701259 CA393287504 |
2 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA273451738 rs902701259 |
2 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7698439 rs754514304 |
4 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs748794966 CA7698438 |
4 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs577750132 CA273451804 |
5 | S>N | No |
ClinGen Ensembl |
|
|
rs1306798194 CA393287559 |
6 | M>T | No |
ClinGen gnomAD |
|
|
CA393287553 rs1215966830 |
6 | M>V | No |
ClinGen TOPMed |
|
|
rs1355572476 CA393287569 |
7 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA393287577 rs1449700175 |
7 | R>K | No |
ClinGen gnomAD |
|
|
CA7698440 rs11631813 VAR_039359 |
8 | S>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA273451819 rs141658538 |
8 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7698441 rs747802590 |
8 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA393287599 rs1282747798 |
9 | W>R | No |
ClinGen TOPMed |
|
|
CA7698443 rs773408685 |
10 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA393287649 rs1344858471 |
12 | C>Y | No |
ClinGen gnomAD |
|
|
rs1433551826 CA393287671 |
13 | Q>P | No |
ClinGen TOPMed |
|
|
CA7698445 rs202188972 |
15 | C>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393287707 rs1596020553 |
16 | S>G | No |
ClinGen Ensembl |
|
|
rs771365494 CA7698446 |
17 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393287743 rs1472335513 |
18 | G>E | No |
ClinGen gnomAD |
|
|
CA393287737 rs1236011278 |
18 | G>R | No |
ClinGen gnomAD |
|
|
CA7698486 COSM275053 rs145916991 |
19 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7698485 rs145916991 |
19 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774695841 CA7698488 |
21 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA393289231 rs1309982235 |
23 | P>L | No |
ClinGen gnomAD |
|
|
rs1208951348 CA393289248 |
26 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA273456236 rs954054419 |
27 | V>I | No |
ClinGen Ensembl |
|
|
CA7698489 rs138852049 |
28 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393289269 rs1465622642 |
29 | Q>* | No |
ClinGen gnomAD |
|
|
CA273456237 rs952457004 |
29 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA393289274 rs1485803001 |
30 | P>T | No |
ClinGen gnomAD |
|
|
rs113862980 CA7698491 |
31 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200792974 CA7698492 |
31 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA273456254 rs200792974 |
31 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393289291 rs1431552534 |
33 | V>M | No |
ClinGen gnomAD |
|
|
VAR_039360 rs16973457 CA7698493 |
34 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA393289304 rs1459032665 |
35 | E>Q | No |
ClinGen gnomAD |
|
|
CA7698495 rs762337082 |
36 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA7698497 rs751103470 |
37 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763641873 CA7698496 |
37 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 38 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393289331 rs1295261772 |
39 | P>T | No |
ClinGen gnomAD |
|
|
rs756838105 CA7698498 |
41 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756838105 CA7698499 |
41 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393289349 rs1258702082 |
41 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1484613785 CA393289351 |
42 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 46 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7698500 rs750740439 |
47 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756572009 CA7698502 |
48 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA393289406 rs1249034831 |
50 | Y>C | No |
ClinGen gnomAD |
|
|
CA7698505 rs755567228 |
50 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA7698507 rs372917609 COSM1206137 |
52 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs150372195 CA7698506 |
52 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138112776 COSM167662 CA7698509 |
56 | S>L | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs149445041 CA7698511 |
57 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775266291 CA7698512 |
61 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs145942009 CA7698513 |
63 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs190958876 CA7698515 |
64 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7698517 rs138563686 |
66 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7698516 COSM3387093 rs376887771 |
66 | R>W | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs756415024 CA7698519 |
68 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs750134200 CA7698518 |
68 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs1391014531 CA393289519 |
69 | E>K | No |
ClinGen TOPMed |
|
|
rs1050430313 CA273456349 |
69 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs766719001 CA7698520 |
71 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs889197772 CA273456357 |
72 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs754182946 CA7698521 |
73 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393289545 rs754182946 |
73 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7698522 rs755466159 |
75 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183317156 COSM1206138 CA393289584 |
78 | D>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA393289588 rs1452034573 |
79 | T>A | No |
ClinGen TOPMed |
|
|
CA7698524 rs748220748 |
80 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA393289602 rs1371830165 |
81 | P>Q | No |
ClinGen gnomAD |
|
|
CA393289600 rs1169192746 |
81 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs758618207 CA7698525 |
82 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1320055337 CA393289608 |
82 | T>I | No |
ClinGen TOPMed |
|
|
rs758618207 CA7698526 |
82 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM965680 rs145652386 CA7698543 |
86 | D>N | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7698542 rs145652386 |
86 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142943048 CA7698544 |
87 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1180958751 CA393289701 |
87 | Y>H | No |
ClinGen TOPMed |
|
|
CA7698545 rs150692799 |
88 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393289723 rs1203155198 |
90 | W>* | No |
ClinGen TOPMed |
|
|
CA7698546 rs777859496 |
93 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1269624462 CA393289758 |
95 | S>G | No |
ClinGen gnomAD |
|
|
rs202091081 CA7698547 |
95 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393289762 rs1221121427 |
95 | S>R | No |
ClinGen gnomAD |
|
|
CA273462219 COSM1317751 rs933256705 |
97 | L>F | Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA393289811 rs1347136602 |
102 | Q>R | No |
ClinGen TOPMed |
|
|
rs757444332 CA7698550 |
103 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1249666192 CA393289826 |
104 | Y>* | No |
ClinGen gnomAD |
|
|
rs781329155 CA7698551 |
105 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1300911917 CA393289840 |
106 | P>L | No |
ClinGen TOPMed |
|
|
CA273462263 CA393289853 rs149761671 |
109 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7698554 rs149761671 |
109 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7698555 rs778804056 |
110 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs371793939 CA7698556 |
110 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7698557 rs771938060 |
111 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA7698558 rs201068142 |
112 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1174409618 CA393289875 |
113 | N>D | No |
ClinGen TOPMed |
|
|
rs77543355 CA7698559 |
115 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368399793 CA7698560 |
116 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393289915 rs1440725269 |
119 | D>N | No |
ClinGen TOPMed |
|
|
CA7698562 rs759947594 |
120 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs765745822 CA7698564 |
122 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393289938 rs765745822 |
122 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1269732312 CA393289947 |
123 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 123 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1204477129 CA393289954 |
124 | Q>H | No |
ClinGen gnomAD |
|
|
rs753132794 CA7698565 |
124 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA393289959 rs1479494275 |
125 | E>A | No |
ClinGen TOPMed |
|
|
rs763475905 CA7698566 |
126 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs764524782 CA7698567 |
128 | P>S | No |
ClinGen ExAC |
|
|
rs1267600631 CA393290001 |
131 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs757348327 CA7698569 |
132 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs781446608 CA7698570 |
133 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA7698571 rs145428498 |
135 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393290028 rs1452163504 |
135 | S>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 136 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs147702604 CA7698573 |
136 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1389038917 CA393290037 |
137 | V>L | No |
ClinGen gnomAD |
|
|
rs771983828 CA7698576 |
138 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7698575 rs771983828 |
138 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393290044 rs1344988779 |
138 | V>I | No |
ClinGen gnomAD |
|
|
CA393290050 rs1214253443 |
139 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7698577 rs746520395 COSM965683 |
140 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA7698578 rs770384622 |
140 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393290057 rs770384622 |
140 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393290061 rs1265816894 |
141 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1265816894 CA393290062 |
141 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA7698579 rs776400546 |
141 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7698580 rs199814789 |
142 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393290065 rs1300566046 |
142 | T>I | No |
ClinGen TOPMed |
|
|
CA393290068 rs1454802895 |
143 | A>P | No |
ClinGen TOPMed |
|
|
CA7698582 rs775928983 |
144 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 144 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1183888590 CA393290085 |
145 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA393290091 rs1248046974 |
146 | N>S | No |
ClinGen gnomAD |
|
|
CA393290102 rs1181451394 |
148 | I>V | No |
ClinGen gnomAD |
|
|
rs763287197 CA7698583 |
149 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1459854639 CA393290112 |
149 | T>R | No |
ClinGen gnomAD |
|
|
CA7698584 rs764659573 |
150 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA7698585 rs774760876 |
151 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7698586 rs550515297 |
152 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs550515297 CA393290128 |
152 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7698587 rs150691873 |
152 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200316427 CA273462419 |
157 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA393290191 rs1313104971 |
161 | E>V | No |
ClinGen gnomAD |
|
|
rs1342095804 CA393290197 |
162 | L>F | No |
ClinGen gnomAD |
|
|
rs1427339004 CA393290214 |
164 | F>C | No |
ClinGen gnomAD |
|
|
rs1427339004 CA393290212 |
164 | F>Y | No |
ClinGen gnomAD |
|
|
CA7698589 rs756266026 |
165 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs148875800 CA7698588 |
165 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7698590 rs766599024 |
168 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7698591 rs752474000 |
170 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7698592 rs758190092 |
173 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs368164942 CA393290283 |
175 | D>H | No |
ClinGen ESP gnomAD |
|
|
rs368164942 CA273462451 |
175 | D>N | No |
ClinGen ESP gnomAD |
|
|
rs371282950 CA273462458 |
176 | Q>K | No |
ClinGen ESP |
|
|
rs746967262 CA7698595 |
176 | Q>R | No |
ClinGen ExAC |
|
|
CA7698596 rs757241533 |
177 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1182274409 CA393290299 |
177 | R>H | No |
ClinGen gnomAD |
|
|
rs1385096305 CA393290326 |
181 | L>I | No |
ClinGen gnomAD |
|
|
rs780806755 CA393290354 |
185 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs780806755 CA7698597 |
185 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7698598 rs139892263 |
188 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393290373 rs1461655412 |
188 | F>V | No |
ClinGen gnomAD |
|
|
rs1404083956 CA393290381 |
189 | Q>* | No |
ClinGen gnomAD |
|
|
rs147011075 CA393290386 |
189 | Q>H | No |
ClinGen TOPMed |
|
|
rs954734373 CA273462485 |
190 | G>C | No |
ClinGen TOPMed |
|
|
CA393290391 rs1567095456 |
190 | G>V | No |
ClinGen Ensembl |
|
|
rs769558018 CA7698602 |
191 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA393290401 rs1292758778 |
192 | I>M | No |
ClinGen gnomAD |
|
|
rs775352370 CA7698604 |
192 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775352370 CA7698603 |
192 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768951862 CA7698605 |
193 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA393290402 rs768951862 |
193 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA7698607 rs762189972 |
195 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA393290422 rs1459712344 |
196 | A>T | No |
ClinGen gnomAD |
|
|
rs149395104 CA7698608 |
198 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393290435 rs1242953911 |
198 | L>V | No |
ClinGen gnomAD |
|
|
rs773221444 CA7698609 |
200 | R>* | No |
ClinGen ExAC |
|
| TCGA novel | 200 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760798976 CA7698610 |
201 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA393290455 rs1188853381 COSM371763 |
201 | P>S | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs781047959 CA273462578 |
202 | V>L | No |
ClinGen Ensembl |
|
|
rs766580905 CA7698611 |
203 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA7698613 rs571638240 |
205 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1468433448 CA393290480 |
205 | R>T | No |
ClinGen gnomAD |
|
|
CA7698614 rs763747184 |
207 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA7698615 rs369179306 |
208 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757192287 CA7698616 |
210 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393290508 rs757192287 |
210 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7698617 rs148049557 |
211 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1273630111 CA393290520 |
212 | F>Y | No |
ClinGen TOPMed |
|
|
rs879036837 CA273462630 |
213 | E>K | No |
ClinGen Ensembl |
|
|
CA7698619 rs534001702 |
214 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA393290542 rs1320924047 |
215 | S>I | No |
ClinGen gnomAD |
|
|
rs1333042836 CA393290546 |
216 | T>A | No |
ClinGen TOPMed |
|
|
rs1262889034 CA393290552 |
217 | E>Q | No |
ClinGen gnomAD |
|
|
rs779831026 CA7698620 |
219 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs779831026 CA393290568 |
219 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA7698621 rs140891092 |
219 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1240928700 CA393290577 |
220 | E>D | No |
ClinGen gnomAD |
|
|
CA273462667 rs554248036 |
221 | S>G | No |
ClinGen 1000Genomes |
|
|
CA7698622 rs768389400 |
223 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA393290605 rs779084497 |
224 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs779084497 CA393290604 |
224 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7698623 rs779084497 |
224 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773773381 CA7698626 |
225 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs760710793 CA7698627 |
225 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA7698625 VAR_039361 rs11630197 |
225 | W>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA273462709 rs975377623 |
228 | P>T | No |
ClinGen Ensembl |
|
|
rs765498622 CA7698631 |
229 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759637215 CA7698630 |
229 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761768985 CA7698634 |
231 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA393290646 rs1567095693 |
231 | E>G | No |
ClinGen Ensembl |
|
|
rs767533621 CA7698636 |
233 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7698639 rs756144037 |
235 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225769726 CA393290670 |
235 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1225769726 CA393290671 |
235 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7698640 rs556428710 |
236 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1294013684 CA393290691 |
238 | Y>S | No |
ClinGen gnomAD |
|
|
CA273462774 rs576359951 |
240 | P>L | No |
ClinGen 1000Genomes gnomAD |
|
|
CA393290721 rs1407010231 |
243 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA393290720 rs1407010231 |
243 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1471283213 CA619408669 |
244 | S>R | No |
ClinGen gnomAD |
|
|
CA393290734 rs1363166726 |
245 | M>L | No |
ClinGen gnomAD |
|
|
CA393290735 rs1363166726 |
245 | M>V | No |
ClinGen gnomAD |
|
|
rs1176641107 CA393290772 |
250 | T>A | No |
ClinGen gnomAD |
|
|
CA7698646 rs778688352 |
251 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 253 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748505489 CA7698647 |
253 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1229360377 CA393290801 |
254 | D>A | No |
ClinGen gnomAD |
|
|
COSM965685 CA393290802 rs1596041683 |
254 | D>E | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs778227310 CA7698649 |
254 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7698650 rs146209921 |
255 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 256 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393290824 rs1275482851 |
258 | Y>H | No |
ClinGen gnomAD |
|
|
CA393290850 rs1439726520 |
261 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs138008248 CA7698652 |
262 | H>R | No |
ClinGen ESP TOPMed |
|
|
CA7698654 rs776507605 |
266 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA273462836 rs779686145 |
267 | R>G | No |
ClinGen Ensembl |
|
|
rs1303059247 CA393290902 |
270 | S>T | No |
ClinGen TOPMed |
|
|
rs1473043697 CA393290918 |
272 | K>* | No |
ClinGen gnomAD |
|
| rs1567095900 | 273 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1185336393 CA393290928 |
273 | R>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 273 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769893098 CA7698656 |
274 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1416875513 CA393290940 |
275 | N>Y | No |
ClinGen gnomAD |
|
|
CA7698658 rs564509405 |
276 | N>S | No |
ClinGen 1000Genomes ExAC |
|
|
rs1168621257 CA393290959 |
277 | F>L | No |
ClinGen gnomAD |
|
|
rs149603065 CA273462844 |
278 | P>A | No |
ClinGen ESP TOPMed gnomAD |
|
| rs1567095931 | 278 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149603065 CA273462847 COSM107186 |
278 | P>S | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
| TCGA novel | 279 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7698659 rs767372333 |
280 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs760626056 CA7698661 |
285 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA273462855 rs529229756 |
285 | M>V | No |
ClinGen Ensembl |
|
|
rs1172741408 CA393291028 |
287 | E>G | No |
ClinGen TOPMed |
|
|
CA393291024 rs1381177572 |
287 | E>K | No |
ClinGen gnomAD |
|
|
rs766355076 CA7698662 COSM256904 |
288 | D>Y | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 289 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393291043 rs1452368938 |
289 | F>S | No |
ClinGen TOPMed |
|
|
rs868855159 CA273462866 |
290 | P>L | No |
ClinGen Ensembl |
|
|
rs1182760469 CA393291064 |
292 | W>C | No |
ClinGen TOPMed |
|
|
CA7698664 rs148788450 |
292 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393291075 rs1437529639 |
294 | S>G | No |
ClinGen TOPMed |
|
| TCGA novel | 294 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1248491573 CA393291087 |
295 | C>F | No |
ClinGen TOPMed |
|
|
rs778395471 CA7698665 |
296 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7698666 rs752394278 |
296 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs973254401 CA273462873 |
297 | Q>R | No |
ClinGen TOPMed |
|
|
rs1280576609 CA393291111 |
299 | L>P | No |
ClinGen TOPMed |
|
|
rs778070242 CA7698668 |
300 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1241069848 CA393291115 |
300 | I>N | No |
ClinGen gnomAD |
|
|
rs1241069848 CA393291116 |
300 | I>T | No |
ClinGen gnomAD |
|
|
CA7698669 rs747376901 |
303 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs747376901 CA393291135 |
303 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1239303104 CA393291147 |
304 | Q>L | No |
ClinGen TOPMed |
|
|
CA393291152 rs1189193847 |
305 | Q>E | No |
ClinGen gnomAD |
|
|
rs1334821441 CA393291172 |
308 | N>D | No |
ClinGen TOPMed |
|
|
rs201940575 CA7698670 |
308 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201940575 CA7698671 |
308 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1474178094 CA393291179 |
309 | P>S | No |
ClinGen gnomAD |
|
|
rs201444581 CA7698672 |
310 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 313 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393291216 rs147543747 |
314 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7698676 rs769007476 |
316 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373502569 CA273462923 |
318 | T>A | No |
ClinGen ESP |
|
| TCGA novel | 319 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751276624 CA393291254 |
320 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA273462924 rs751276624 |
320 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1291896543 CA393291264 |
322 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA7698680 rs776667742 |
323 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs766226961 CA7698679 |
323 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7698678 rs760609599 |
323 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs139856653 CA7698683 |
326 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7698684 rs145387646 |
327 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393291304 rs1209312883 |
328 | L>* | No |
ClinGen TOPMed |
|
|
CA273462945 rs900070606 |
331 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA7698685 rs769072231 |
333 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393291341 rs1209270979 |
333 | S>R | No |
ClinGen gnomAD |
|
|
rs1204925350 CA393291344 |
334 | C>G | No |
ClinGen TOPMed |
|
|
rs751907466 CA7698686 |
338 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA393291382 rs1286095161 |
339 | I>T | No |
ClinGen TOPMed |
|
|
CA7698687 rs147384364 |
340 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393291389 rs147384364 |
340 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201317711 CA7698688 |
343 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 343 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393291426 rs1275364316 |
346 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs756612983 CA7698690 |
347 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393291449 rs1427636977 |
349 | D>A | No |
ClinGen gnomAD |
|
|
CA393291459 rs1159525598 |
350 | V>E | No |
ClinGen gnomAD |
|
|
rs1469664733 CA393291454 |
350 | V>I | No |
ClinGen gnomAD |
|
|
CA7698691 rs780217425 |
351 | T>A | No |
ClinGen ExAC |
|
|
rs1399502718 CA393291468 |
352 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs191282573 CA7698692 |
352 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7698693 rs200940350 |
353 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7698696 rs183770816 |
355 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1462198307 CA393291499 |
357 | Y>N | No |
ClinGen TOPMed |
|
|
CA393291508 rs1417237697 |
358 | T>A | No |
ClinGen TOPMed |
|
|
CA7698698 rs759475223 |
358 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7698700 rs149921747 |
359 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA273463065 rs149921747 |
359 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149921747 CA393291514 |
359 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7698699 rs140995244 |
359 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1445615943 CA393291521 |
360 | K>N | No |
ClinGen TOPMed |
|
|
rs145012205 CA7698702 |
363 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1204535684 CA393291538 |
363 | E>K | No |
ClinGen gnomAD |
|
|
rs751263030 CA7698703 |
365 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA7698705 rs767886156 |
366 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1335140320 CA393291571 |
368 | S>G | No |
ClinGen TOPMed |
|
|
CA393291574 rs1331030793 |
368 | S>T | No |
ClinGen Ensembl |
|
|
rs373232886 CA393291578 |
369 | Y>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA273463092 rs373232886 |
369 | Y>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA7698708 rs145117610 |
369 | Y>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393291585 rs753966372 |
370 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7698709 rs753966372 |
370 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs116324279 CA7698710 |
371 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393291599 rs1362728460 |
372 | P>L | No |
ClinGen TOPMed |
|
|
rs1301385702 CA393291602 |
373 | P>S | No |
ClinGen gnomAD |
|
|
CA393291609 rs1365118664 |
374 | G>D | No |
ClinGen gnomAD |
|
|
rs748348012 CA7698712 |
376 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs536429866 CA7698714 |
378 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA273463111 rs536429866 |
378 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs967870836 CA273463117 |
379 | N>D | No |
ClinGen TOPMed |
|
|
rs1567096486 CA393291646 |
379 | N>K | No |
ClinGen Ensembl |
|
|
CA393291643 rs1420378763 |
379 | N>S | No |
ClinGen TOPMed |
|
|
CA273463121 rs556365093 |
382 | S>A | No |
ClinGen 1000Genomes |
|
|
CA7698716 rs745661687 |
385 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs769704151 CA7698717 |
386 | K>E | No |
ClinGen ExAC gnomAD |
|
|
COSM3420662 rs1449256915 CA393291700 |
387 | F>L | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM965688 rs377069385 CA7698718 |
389 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs199953843 CA7698719 |
389 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199953843 CA393291713 |
389 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393291723 rs977574734 |
391 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA273463146 rs977574734 |
391 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1253059714 CA393291732 |
392 | I>T | No |
ClinGen gnomAD |
|
|
CA393291729 rs1197230657 |
392 | I>V | No |
ClinGen gnomAD |
|
|
CA7698720 rs768106334 |
394 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs773882182 CA7698721 |
395 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs538908554 CA273463153 |
397 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs538908554 CA7698722 |
397 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA273463161 rs866728527 |
397 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
No associated diseases with Q658L1
No regional properties for Q658L1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q658L1 | |||
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| axonemal microtubule | A microtubule in the axoneme of a eukaryotic cilium or flagellum; an axoneme contains nine modified doublet microtubules, which may or may not surround a pair of single microtubules. |
| centriole | A cellular organelle, found close to the nucleus in many eukaryotic cells, consisting of a small cylinder with microtubular walls, 300-500 nm long and 150-250 nm in diameter. It contains nine short, parallel, peripheral microtubular fibrils, each fibril consisting of one complete microtubule fused to two incomplete microtubules. Cells usually have two centrioles, lying at right angles to each other. At division, each pair of centrioles generates another pair and the twin pairs form the pole of the mitotic spindle. |
| ciliary basal body | A membrane-tethered, short cylindrical array of microtubules and associated proteins found at the base of a eukaryotic cilium (also called flagellum) that is similar in structure to a centriole and derives from it. The cilium basal body is the site of assembly and remodelling of the cilium and serves as a nucleation site for axoneme growth. As well as anchoring the cilium, it is thought to provide a selective gateway regulating the entry of ciliary proteins and vesicles by intraflagellar transport. |
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| sperm flagellum | A microtubule-based flagellum (or cilium) that is part of a sperm, a mature male germ cell that develops from a spermatid. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGAKSMRSWC | LCQICSCGSD | YCPYEIVKQP | RHVPEEYKPK | QGKIDLGTTY | KRDLNSYKVQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PVAIVRPLER | QVKKGKLDTV | PTYKDDYRAW | DLHKSELYKP | EQTYHPPTVK | FGNSTTFQDD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FVPQEIKPRQ | SFKPSSVVKR | STAPFNGITS | HRLDYIPHQL | ELKFERPKEV | YKPTDQRFED |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LTTHRCDFQG | LIGETAKLCR | PVHTRVTQNA | LFEGSTEFRE | SFQPWEIPPP | EVKKVPEYVP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PTGSMLLNST | SHLDYVPYQA | NHVVPIRPVS | QKRSNNFPFQ | GKSIMKEDFP | AWESCRQGLI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KKQQQIPNPS | GKFDGLSTFR | SHYVPHELIP | TESCKPLNIA | FKSSVPFDDV | TMYSVEYTPK |
| 370 | 380 | 390 | |||
| RQEICPASYP | SPPGYIFDNT | NSQGHKFFRK | IIPAVKAF |