P68366
PR
Gene name |
TUBA4A (TUBA1) |
Protein name |
Tubulin alpha-4A chain |
Names |
Alpha-tubulin 1, Testis-specific alpha-tubulin, Tubulin H2-alpha, Tubulin alpha-1 chain |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7277 |
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 P68366
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P68366-F1 | Predicted | AlphaFoldDB |
230 variants for P68366
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA185905 rs730880029 VAR_072714 RCV000157039 |
145 | T>P | Amyotrophic lateral sclerosis type 22 ALS22 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_072715 CA185903 RCV000157037 rs730880028 |
215 | R>C | Amyotrophic lateral sclerosis 22 with frontotemporal dementia ALS22; displays significantly different distribution in terms of incorporation into microtubules [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
VAR_072716 CA185899 RCV000157034 rs730880025 |
320 | R>C | Amyotrophic lateral sclerosis type 22 ALS22; displays significantly lower levels of dimer assembly [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs730880026 VAR_072717 CA185900 RCV000157035 |
320 | R>H | Amyotrophic lateral sclerosis type 22 ALS22; displays significantly lower levels of dimer assembly [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000157038 CA185904 rs368743618 VAR_072718 |
383 | A>T | Amyotrophic lateral sclerosis type 22 ALS22; displays significantly different distribution in terms of incorporation into microtubules; destabilizes the microtubule network [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs730880027 RCV000157036 CA185901 |
407 | W>* | Amyotrophic lateral sclerosis type 22 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1184362357 CA350733616 |
7 | V>F | No |
ClinGen gnomAD |
|
|
COSM1016707 rs1264872923 CA350733581 |
9 | V>M | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs933456089 CA65994791 |
10 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs923338283 CA65994781 |
11 | Q>P | No |
ClinGen TOPMed |
|
|
CA2122548 rs751783740 |
17 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1307863058 CA350733340 |
18 | N>S | No |
ClinGen gnomAD |
|
|
CA350733285 rs1205788342 |
21 | W>* | No |
ClinGen TOPMed |
|
|
CA2122545 rs753230693 |
25 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1379970599 CA350733175 |
29 | G>R | No |
ClinGen gnomAD |
|
|
CA350733139 rs1446477253 |
32 | P>S | No |
ClinGen gnomAD |
|
|
rs1241361124 CA350733112 |
34 | G>R | No |
ClinGen gnomAD |
|
|
rs368969801 CA2122542 |
35 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs766075261 CA2122541 |
37 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1242479671 CA350733067 |
38 | S>R | No |
ClinGen gnomAD |
|
|
rs760363903 CA2122540 |
38 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA2122539 rs772807683 |
41 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs201865832 CA2122537 |
42 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774232761 CA350733005 |
43 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2122536 rs774232761 |
43 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2122535 rs768583053 |
44 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs745889662 CA2122534 |
45 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA350731633 rs140319726 |
46 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350731644 rs1428999788 |
46 | D>N | No |
ClinGen gnomAD |
|
|
rs757156202 CA65994695 |
47 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs757156202 CA2122532 |
47 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 53 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 54 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 57 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2122531 rs747219812 |
57 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs758743744 CA2122529 |
60 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2122528 rs748558025 |
61 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1487165509 CA350731262 |
62 | V>I | No |
ClinGen gnomAD |
|
|
rs1430581087 CA350731164 |
64 | R>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 64 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867951218 CA65994630 |
65 | A>S | No |
ClinGen Ensembl |
|
|
rs372756767 CA2122525 |
68 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765910022 CA2122524 |
69 | D>E | No |
ClinGen ExAC |
|
|
CA2122523 rs755620655 |
71 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA350730902 rs1307591760 |
73 | T>M | No |
ClinGen gnomAD |
|
|
rs1951656756 RCV001268048 |
75 | I>missing | No |
ClinVar dbSNP |
|
|
CA350730541 rs1300803854 |
78 | I>T | No |
ClinGen gnomAD |
|
|
COSM1405619 COSM1405618 CA2122505 rs780475810 |
79 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA350730526 COSM76907 rs1375554152 COSM76908 |
79 | R>Q | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA350730479 rs1329460337 |
81 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2122504 rs755609946 |
82 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs749906171 CA2122503 |
83 | Y>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 83 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2122502 rs757590679 |
84 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756888946 CA2122501 |
84 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2122500 rs751277119 |
85 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 89 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1176279500 CA350730238 |
91 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1244963966 CA350730062 |
98 | D>A | No |
ClinGen TOPMed |
|
| TCGA novel | 98 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2122495 rs760745277 |
105 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201172087 CA65994265 |
110 | I>T | No |
ClinGen 1000Genomes |
|
|
rs200651096 CA65994278 |
110 | I>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA65994259 rs201649283 |
111 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
| rs773787054 | 113 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA65994242 rs925237289 |
115 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1456987546 CA350729401 |
117 | P>L | No |
ClinGen TOPMed |
|
|
CA2122491 rs762123008 |
117 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1171853661 CA350729340 |
121 | R>Q | No |
ClinGen gnomAD |
|
|
rs769120095 CA2122489 |
121 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM1016696 CA2122488 COSM1016695 rs749694106 |
123 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs780543647 CA2122487 |
123 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243227760 CA350729250 |
125 | L>R | No |
ClinGen gnomAD |
|
|
rs775703836 CA2122470 |
127 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA350729097 rs1574884812 |
127 | D>Y | No |
ClinGen Ensembl |
|
|
rs781745194 CA2122467 |
137 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1574884797 CA350728770 |
139 | H>N | No |
ClinGen Ensembl |
|
|
rs770376188 CA2122466 |
143 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA350728500 rs1399011331 |
148 | G>D | No |
ClinGen gnomAD |
|
|
rs1365853145 CA350728490 |
149 | F>V | No |
ClinGen gnomAD |
|
|
CA350728451 rs1226044277 |
152 | L>F | No |
ClinGen TOPMed |
|
|
rs1574884710 CA350728437 |
154 | M>L | No |
ClinGen Ensembl |
|
|
rs1286670733 CA350728427 |
154 | M>R | No |
ClinGen gnomAD |
|
|
CA2122462 rs752457075 |
156 | R>Q | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA350728241 rs1479120854 |
160 | D>E | No |
ClinGen gnomAD |
|
|
rs1168935873 CA350728245 |
160 | D>V | No |
ClinGen gnomAD |
|
|
CA2122461 rs778571547 COSM78727 COSM78726 |
161 | Y>C | ovary Variant assessed as Somatic; 9.239e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA350728201 rs1222608163 |
162 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 163 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2122459 rs753697044 |
168 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 169 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1574884673 CA350728054 |
170 | S>T | No |
ClinGen Ensembl |
|
|
CA350728038 rs1574884668 |
171 | I>V | No |
ClinGen Ensembl |
|
|
CA2122457 RCV000896119 COSM146064 rs757373635 COSM146065 RCV002248332 |
181 | V>M | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA350727859 COSM3713618 rs1262823148 COSM3713617 |
182 | V>I | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA2122453 rs775821469 |
183 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775821469 CA65993772 |
183 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1014404215 CA65993765 |
186 | N>S | No |
ClinGen TOPMed |
|
|
CA350727603 rs1276213141 |
196 | E>K | No |
ClinGen gnomAD |
|
|
CA350727494 rs1399981537 |
200 | C>R | No |
ClinGen gnomAD |
|
|
rs1329986384 CA350727411 |
203 | M>I | No |
ClinGen gnomAD |
|
|
CA2122447 rs772698843 |
207 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs771641172 CA2122446 |
211 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1470482729 CA350727102 |
212 | I>V | No |
ClinGen gnomAD |
|
|
CA2122445 rs747728810 |
214 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs778676398 CA2122444 |
214 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371074506 CA2122443 |
215 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs80231183 CA65993707 |
217 | L>I | No |
ClinGen Ensembl |
|
|
CA350726763 COSM1016689 rs1312490496 COSM1016690 |
221 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs199826343 CA2122438 |
221 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350726677 rs1574884475 |
225 | T>P | No |
ClinGen Ensembl |
|
|
rs1574884457 CA350726522 |
229 | R>S | No |
ClinGen Ensembl |
|
|
rs1574884436 CA350726394 |
232 | S>G | No |
ClinGen Ensembl |
|
|
rs1472090335 CA350726325 |
235 | V>F | No |
ClinGen gnomAD |
|
| TCGA novel | 240 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2122435 rs765525084 |
240 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs199881197 CA2122433 |
243 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2122432 rs766789413 |
243 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs766789413 CA350726156 |
243 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs199881197 CA350726168 |
243 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1258601661 CA350726080 |
246 | G>R | No |
ClinGen gnomAD |
|
|
CA350725933 rs1574884348 |
252 | L>V | No |
ClinGen Ensembl |
|
|
rs1574884341 CA350725901 |
253 | T>K | No |
ClinGen Ensembl |
|
|
RCV001009296 rs1574884336 |
254 | E>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 256 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350725764 rs1574884326 |
258 | N>T | No |
ClinGen Ensembl |
|
|
rs1574884323 CA350725746 |
259 | L>R | No |
ClinGen Ensembl |
|
| TCGA novel | 259 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747715758 CA2122428 |
260 | V>M | No |
ClinGen ExAC gnomAD |
|
|
COSM573641 CA2122427 rs147946711 COSM573642 |
261 | P>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA65993644 rs921668715 |
262 | Y>* | No |
ClinGen TOPMed |
|
|
rs1574884313 CA350725717 |
262 | Y>S | No |
ClinGen Ensembl |
|
|
CA2122425 rs749005381 |
264 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA65993633 rs749005381 |
264 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2122424 rs141069951 |
264 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA350725687 rs141069951 |
264 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1559276179 CA350725681 |
265 | I>L | No |
ClinGen Ensembl |
|
|
CA2122423 rs756014119 |
267 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1574884254 CA350725541 |
270 | A>V | No |
ClinGen Ensembl |
|
|
rs1559276166 CA350725531 |
271 | T>S | No |
ClinGen Ensembl |
|
|
CA2122421 rs781297152 |
272 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1241875438 CA350725468 |
274 | P>A | No |
ClinGen gnomAD |
|
|
CA2122420 rs758365970 |
274 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs377319362 CA2122418 |
276 | I>V | No |
ClinGen ESP ExAC TOPMed |
|
|
rs754128746 CA2122417 |
280 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs766703407 CA2122415 |
281 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 282 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs972917970 CA65993588 |
287 | S>L | No |
ClinGen TOPMed |
|
|
rs768101021 CA2122412 |
288 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs548026518 CA2122411 |
289 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA350724957 rs1424300777 |
293 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1376998909 CA350724965 |
293 | N>S | No |
ClinGen TOPMed |
|
|
CA2122409 rs768116035 |
297 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2122408 rs762662180 |
299 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1472304455 CA350724817 |
300 | N>D | No |
ClinGen gnomAD |
|
|
CA350724717 rs1284650435 |
305 | C>R | No |
ClinGen gnomAD |
|
|
CA2122403 rs770910730 |
308 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780921701 CA2122404 |
308 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA350724575 rs1228261084 |
312 | Y>H | No |
ClinGen gnomAD |
|
|
rs779048233 CA2122401 |
315 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2122400 rs754040899 |
325 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1574883944 CA350724149 |
329 | N>T | No |
ClinGen Ensembl |
|
|
rs369027314 CA65993387 COSM1016684 COSM1016683 |
330 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
|
CA2122397 rs750792560 |
334 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs767856035 CA2122396 |
334 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350723979 rs1559275902 |
335 | I>T | No |
ClinGen Ensembl |
|
|
CA350723910 rs762376608 |
337 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2122395 rs762376608 |
337 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1016681 COSM1016682 rs752044060 CA2122394 |
339 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA350723856 rs1263187208 |
339 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA350723862 rs752044060 |
339 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350723838 rs1221461067 |
340 | S>N | No |
ClinGen gnomAD |
|
|
rs763637343 CA2122393 |
342 | Q>R | No |
ClinGen ExAC |
|
|
CA2122392 rs762574079 |
343 | F>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 345 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001291611 rs1951631864 |
352 | K>missing | No |
ClinVar dbSNP |
|
|
CA2122391 rs775239569 |
353 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1574883839 CA350723344 |
357 | Y>S | No |
ClinGen Ensembl |
|
|
rs769571931 CA2122390 |
359 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2122389 rs759343956 |
362 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 364 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770701335 CA2122387 |
365 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1365558583 CA350723090 |
366 | G>D | No |
ClinGen gnomAD |
|
| rs1559275823 | 366 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1156350101 CA350722973 |
370 | K>N | No |
ClinGen gnomAD |
|
|
CA65993298 rs897318648 |
372 | Q>R | No |
ClinGen gnomAD |
|
|
rs551859540 CA2122385 |
373 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2122384 rs768677078 |
373 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs377431750 COSM1016679 CA2122381 COSM1016680 |
375 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA350722744 rs1574883729 |
379 | S>C | No |
ClinGen Ensembl |
|
|
CA350722738 rs1574883723 |
379 | S>T | No |
ClinGen Ensembl |
|
|
CA2122379 rs781587642 |
381 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350722686 rs781587642 |
381 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2122374 rs764895997 |
386 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA350722486 rs1472007596 |
388 | W>* | No |
ClinGen gnomAD |
|
|
CA350722362 rs562895831 |
395 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2122371 rs766177312 |
398 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 399 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350722176 rs1332048689 |
401 | K>Q | No |
ClinGen TOPMed |
|
|
CA350722119 CA350722120 rs1574883607 |
402 | R>S | No |
ClinGen Ensembl |
|
|
CA2122370 rs760414026 |
403 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs773161555 CA2122369 |
405 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350721962 rs1395492474 |
407 | W>* | No |
ClinGen gnomAD |
|
|
rs1559275689 CA350721931 |
408 | Y>C | No |
ClinGen Ensembl |
|
| TCGA novel | 412 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1467238949 CA350721823 |
413 | M>I | No |
ClinGen gnomAD |
|
|
CA2122367 rs749310004 |
415 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs769899863 CA2122365 |
420 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381638030 CA350721547 |
421 | A>D | No |
ClinGen gnomAD |
|
|
CA65993127 rs1037184911 |
422 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1257262841 CA350721522 |
422 | R>H | No |
ClinGen gnomAD |
|
|
rs781292239 CA2122363 |
427 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs757601862 CA2122362 |
428 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2122361 rs778363691 |
429 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA65993083 rs201092237 |
429 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2122360 rs778363691 |
429 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1574883475 CA350721339 |
430 | K>E | No |
ClinGen Ensembl |
|
|
rs754497882 CA2122357 |
431 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2122358 rs753320398 |
431 | D>G | No |
ClinGen ExAC |
|
|
CA350721265 rs1574883459 |
434 | E>G | No |
ClinGen Ensembl |
|
|
CA350721250 rs1574883444 |
435 | V>G | No |
ClinGen Ensembl |
|
|
rs753485163 CA2122355 |
437 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs753485163 CA350721238 |
437 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA2122354 rs760451884 |
437 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA65993021 rs913033084 |
438 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs376008810 CA65992977 |
440 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2122352 rs772897588 |
442 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs985144317 CA65992963 |
443 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1311833245 CA350721123 |
446 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 448 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
1 associated diseases with P68366
[MIM: 616208]: Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia (ALS22)
A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. Patients with ALS22 may develop frontotemporal dementia. {ECO:0000269|PubMed:25374358}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. Patients with ALS22 may develop frontotemporal dementia. {ECO:0000269|PubMed:25374358}. Note=The disease is caused by variants affecting the gene represented in this entry.
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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 region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
| microtubule cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTP binding | Binding to GTP, guanosine triphosphate. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| structural constituent of cytoskeleton | The action of a molecule that contributes to the structural integrity of a cytoskeletal structure. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| microtubule cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. |
| mitotic cell cycle | Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent. |
16 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9ZRB7 | TUBA | Tubulin alpha chain | Triticum aestivum (Wheat) | PR |
| P09734 | TUB3 | Tubulin alpha-3 chain | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q6VAG1 | Tubulin alpha-1 chain | Gossypium hirsutum (Upland cotton) (Gossypium mexicanum) | PR | |
| Q6VAF9 | Tubulin alpha-4 chain | Gossypium hirsutum (Upland cotton) (Gossypium mexicanum) | PR | |
| Q6VAG0 | Tubulin alpha-2 chain | Gossypium hirsutum (Upland cotton) (Gossypium mexicanum) | PR | |
| P14641 | TUBA2 | Tubulin alpha-2 chain | Zea mays (Maize) | PR |
| Q02245 | TUBA5 | Tubulin alpha-5 chain | Zea mays (Maize) | PR |
| P33627 | TUBA6 | Tubulin alpha-6 chain | Zea mays (Maize) | PR |
| P22275 | TUBA3 | Tubulin alpha-3 chain | Zea mays (Maize) | PR |
| P14640 | TUBA1 | Tubulin alpha-1 chain | Zea mays (Maize) | PR |
| P68368 | Tuba4a | Tubulin alpha-4A chain | Mus musculus (Mouse) | PR |
| P28752 | TUBA1 | Tubulin alpha-1 chain | Oryza sativa subsp japonica (Rice) | PR |
| Q53M52 | TUBA | Tubulin alpha-2 chain | Oryza sativa subsp japonica (Rice) | PR |
| Q0WV25 | TUBA4 | Tubulin alpha-4 chain | Arabidopsis thaliana (Mouse-ear cress) | PR |
| B9DGT7 | TUBA2 | Tubulin alpha-2 chain | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P29511 | TUBA6 | Tubulin alpha-6 chain | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRECISVHVG | QAGVQMGNAC | WELYCLEHGI | QPDGQMPSDK | TIGGGDDSFT | TFFCETGAGK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| HVPRAVFVDL | EPTVIDEIRN | GPYRQLFHPE | QLITGKEDAA | NNYARGHYTI | GKEIIDPVLD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RIRKLSDQCT | GLQGFLVFHS | FGGGTGSGFT | SLLMERLSVD | YGKKSKLEFS | IYPAPQVSTA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VVEPYNSILT | THTTLEHSDC | AFMVDNEAIY | DICRRNLDIE | RPTYTNLNRL | ISQIVSSITA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SLRFDGALNV | DLTEFQTNLV | PYPRIHFPLA | TYAPVISAEK | AYHEQLSVAE | ITNACFEPAN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QMVKCDPRHG | KYMACCLLYR | GDVVPKDVNA | AIAAIKTKRS | IQFVDWCPTG | FKVGINYQPP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TVVPGGDLAK | VQRAVCMLSN | TTAIAEAWAR | LDHKFDLMYA | KRAFVHWYVG | EGMEEGEFSE |
| 430 | 440 | ||||
| AREDMAALEK | DYEEVGIDSY | EDEDEGEE |