P36021
PR
Gene name |
SLC16A2 |
Protein name |
Monocarboxylate transporter 8 |
Names |
MCT 8, Monocarboxylate transporter 7, MCT 7, Solute carrier family 16 member 2, X-linked PEST-containing transporter |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6567 |
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 P36021
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P36021-F1 | Predicted | AlphaFoldDB |
341 variants for P36021
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002415739 RCV000173411 rs201853949 |
1 | M>L | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA413655604 RCV000790966 rs933036653 |
9 | E>K | Allan-Herndon-Dudley syndrome Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs1569280986 RCV001868982 CA413655656 RCV000733054 |
16 | Q>* | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs753170095 RCV001713064 RCV001057868 |
33 | S>missing | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002311521 RCV001847615 RCV000020650 RCV000829237 rs6647476 CA148522 RCV000081443 RCV001081875 |
33 | S>P | Allan-Herndon-Dudley syndrome Hereditary spastic paraplegia Spastic paraplegia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs756065515 RCV000818285 CA10454378 |
50 | E>K | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA413655889 RCV000760533 RCV003223412 rs1569281085 |
52 | Q>* | Allan-Herndon-Dudley syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1034820850 RCV001067766 |
68 | E>* | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1034820850 CA331275947 RCV000822253 |
68 | E>K | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1052769515 CA331275950 RCV002316808 |
84 | E>K | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000192994 rs797045965 |
86 | R>missing | Allan-Herndon-Dudley syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10454391 rs751226641 RCV000458115 |
88 | T>A | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201661705 RCV002057242 RCV002313943 CA10454392 |
89 | A>P | Spastic paraplegia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001712741 RCV002318646 RCV001518997 CA10454393 rs201661705 |
89 | A>T | Spastic paraplegia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000147498 rs587784386 CA272493 |
93 | Q>* | Allan-Herndon-Dudley syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002314585 rs1357516055 CA413656166 |
97 | G>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001332780 RCV002242302 rs1928309226 |
112 | G>R | Allan-Herndon-Dudley syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000703892 RCV000624208 rs1555979596 |
120 | S>missing | Spastic paraplegia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_059054 rs113994162 RCV000020651 CA342116 |
120 | S>F | Allan-Herndon-Dudley syndrome MCT8 deficiency; impaired homodimerization [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000193992 rs797045966 |
125 | Y>missing | Allan-Herndon-Dudley syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000515820 rs1555979601 CA413656363 |
126 | S>Y | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000622997 rs1555979604 CA413656378 |
128 | L>P | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001869313 rs1602099961 RCV000856825 |
136 | N>missing | Allan-Herndon-Dudley syndrome Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001251643 RCV001087210 RCV001847654 RCV002362728 rs145061343 RCV000514434 CA222960 |
138 | Q>E | Hereditary spastic paraplegia Intellectual disability Spastic paraplegia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000595183 rs1555989364 CA413656509 RCV000984914 |
145 | W>* | Allan-Herndon-Dudley syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001262483 rs1930396705 |
145 | W>* | Allan-Herndon-Dudley syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA413656522 VAR_074572 rs1602140936 RCV000824884 |
147 | G>R | Allan-Herndon-Dudley syndrome MCT8 deficiency; impaired thyroid hormone transporter activity; does not affect localization to the cell membrane [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000147499 rs104894936 CA272495 |
150 | A>E | Allan-Herndon-Dudley syndrome Allan-herndon-dudley syndrome (ahds) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs373279555 VAR_074573 RCV001004869 CA10454410 |
150 | A>T | Allan-Herndon-Dudley syndrome Variant assessed as Somatic; 0.0 impact. MCT8 deficiency; impaired homodimerization [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000012400 rs104894936 RCV000790835 VAR_022348 CA222962 |
150 | A>V | Allan-Herndon-Dudley syndrome Allan-herndon-dudley syndrome (ahds) MCT8 deficiency; does not affect homodimerization activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001091604 RCV000012407 rs387906501 |
156 | F>missing | Allan-Herndon-Dudley syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_059055 | 156 | F>del | MCT8 deficiency; increased homodimerization activity [UniProt] | Yes | UniProt |
| VAR_059056 | 161 | V>M | MCT8 deficiency; increased homodimerization activity [UniProt] | Yes | UniProt |
|
CA413656643 rs1555989369 RCV000622284 RCV001756023 |
164 | F>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002290649 rs1930398120 RCV001232100 |
171 | R>* | Allan-Herndon-Dudley syndrome Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000504177 rs1555989375 |
178 | A>missing | Allan-Herndon-Dudley syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002395312 CA10454420 rs759933264 RCV002528312 |
180 | V>I | Spastic paraplegia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000153954 RCV001375983 VAR_074574 CA234941 rs727504155 |
197 | R>H | Allan-Herndon-Dudley syndrome MCT8 deficiency; does not affect homodimerization activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1930456883 RCV001267593 RCV001226068 |
206 | G>D | Spastic paraplegia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_074575 | 208 | G>C | MCT8 deficiency; impaired thyroid hormone transporter activity; impaired localization to the cell membrane [UniProt] | Yes | UniProt |
|
RCV000861104 CA10454446 rs376266144 RCV001555881 |
212 | A>T | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000623328 CA413656980 rs759410438 |
215 | P>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
CA222963 rs398124232 VAR_075145 RCV000081446 |
216 | S>F | MCT8 deficiency; decreased thyroid hormone transport; decreased protein abundance; decreased localization to the plasma membrane [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_078497 | 217 | L>R | MCT8 deficiency; atypical form; characterized by developmental delay hypotonia and delayed myelination [UniProt] | Yes | UniProt |
|
rs1930457917 RCV001170023 |
223 | Y>D | Allan-Herndon-Dudley syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10454451 rs201194222 RCV002538284 RCV000836263 |
226 | R>C | Variant assessed as Somatic; 0.0 impact. Spastic paraplegia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1930458591 RCV001039803 |
232 | N>missing | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_074576 | 247 | P>L | MCT8 deficiency; impaired thyroid hormone transporter activity; does not affect localization to the cell membrane [UniProt] | Yes | UniProt |
|
RCV001266733 rs1930459512 |
261 | Q>* | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1930459831 RCV001265895 |
266 | L>R | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA413657558 rs1602142117 RCV000822215 |
305 | A>V | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587784382 RCV000147492 CA272486 |
306 | Q>* | Allan-Herndon-Dudley syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001218425 rs1930462863 |
313 | M>T | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000760473 RCV001853109 RCV000193469 rs766773277 CA277146 |
314 | R>* | Allan-Herndon-Dudley syndrome Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000863531 RCV002517136 rs144755294 RCV002315501 CA209359 RCV000194893 |
317 | R>C | Spastic paraplegia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001333549 rs1930463806 |
324 | W>* | Allan-Herndon-Dudley syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000147493 RCV000415270 CA272488 rs587784383 RCV001267932 RCV001383614 |
327 | G>R | Allan-Herndon-Dudley syndrome Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
TCGA novel RCV001333548 rs1380635081 |
357 | W>* | Variant assessed as Somatic; impact. Allan-Herndon-Dudley syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA ClinVar dbSNP |
|
CA341127 rs104894939 VAR_059057 RCV000012405 |
360 | L>W | Allan-Herndon-Dudley syndrome Allan-herndon-dudley syndrome (ahds) MCT8 deficiency; impaired homodimerization [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA413657958 rs1555989837 RCV000541912 |
362 | C>R | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587784384 RCV000147494 CA272490 RCV000224827 RCV001226584 RCV000624288 RCV001847780 VAR_074577 |
371 | R>C | Hereditary spastic paraplegia Allan-Herndon-Dudley syndrome Allan-herndon-dudley syndrome (ahds) Spastic paraplegia Inborn genetic diseases MCT8 deficiency; impaired homodimerization [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002067071 CA10454493 RCV000721063 rs201039304 |
373 | V>M | History of neurodevelopmental disorder Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs104894940 CA255948 RCV000012406 |
374 | S>* | Allan-Herndon-Dudley syndrome Allan-herndon-dudley syndrome (ahds) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_074578 | 379 | D>V | MCT8 deficiency; impaired thyroid hormone transporter activity; does not affect localization to the cell membrane [UniProt] | Yes | UniProt |
|
rs1930480393 RCV001265966 |
382 | P>L | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_022349 RCV000224792 CA255947 rs122455132 RCV000012402 |
397 | L>P | Allan-Herndon-Dudley syndrome Allan-herndon-dudley syndrome (ahds) Intellectual disability MCT8 deficiency; does not affect homodimerization activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA413658304 RCV000707042 rs1569300461 |
413 | L>R | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA413658313 rs1569300465 RCV000707043 |
415 | V>D | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs367543059 CA344565 RCV000034937 |
418 | L>P | Allan-Herndon-Dudley syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000990870 rs1602143383 CA413658353 |
421 | G>V | Allan-Herndon-Dudley syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA413658379 RCV000700904 rs1449997865 |
425 | G>V | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs113994164 VAR_059058 RCV000020649 |
427 | F>missing | Allan-Herndon-Dudley syndrome MCT8 deficiency [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs113994164 VAR_059058 |
427 | F>del | MCT8 deficiency [UniProt] | Yes |
UniProt dbSNP |
|
rs104894931 CA255946 RCV000012398 VAR_022350 |
438 | L>P | Allan-Herndon-Dudley syndrome Allan-herndon-dudley syndrome (ahds) MCT8 deficiency; does not affect homodimerization activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1602143432 RCV000990871 |
458 | P>missing | Allan-Herndon-Dudley syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001317882 rs1930533677 |
460 | I>missing | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_074579 | 463 | P>L | MCT8 deficiency; impaired thyroid hormone transporter activity; does not affect localization to the cell membrane [UniProt] | Yes | UniProt |
|
RCV000677736 rs1363308293 CA413658638 |
464 | P>S | Allan-Herndon-Dudley syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000192887 rs797045962 |
465 | I>missing | Allan-Herndon-Dudley syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_074580 | 484 | G>D | MCT8 deficiency; does not affect homodimerization activity; impaired thyroid hormone transporter activity; impaired localization to the cell membrane [UniProt] | Yes | UniProt |
|
rs193920756 CA174523 RCV000149183 |
484 | G>V | Malignant tumor of prostate [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_078498 | 490 | G>E | MCT8 deficiency; results in a mild clinical phenotype; retains some residual thyroid hormone transporter activity [UniProt] | Yes | UniProt |
|
RCV002247595 CA246723 RCV000179466 RCV002408780 VAR_059059 rs794727799 |
490 | G>R | Allan-Herndon-Dudley syndrome Inborn genetic diseases MCT8 deficiency; loss of thyroid hormone transport [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs797045963 RCV000193930 |
492 | V>missing | Allan-Herndon-Dudley syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000012404 rs104894938 CA341126 VAR_059060 |
494 | L>P | Allan-Herndon-Dudley syndrome Allan-herndon-dudley syndrome (ahds) MCT8 deficiency; does not affect homodimerization activity [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs104894938 CA413659004 RCV000693919 |
494 | L>R | Allan-herndon-dudley syndrome (ahds) Spastic paraplegia [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs140303247 CA10454542 RCV002399907 RCV001816979 RCV000867950 |
501 | H>R | Spastic paraplegia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001045410 RCV001508042 rs1289700497 CA413659120 |
504 | M>I | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP ClinGen gnomAD |
|
rs1411882430 RCV000623322 CA413659334 |
521 | D>E | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555990320 RCV000623184 |
528 | L>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000012408 rs113994166 |
538 | P>missing | Allan-Herndon-Dudley syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA331275940 rs866611686 |
2 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs757990985 CA10454354 |
3 | L>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 4 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1313277352 CA413655583 |
6 | Q>* | No |
ClinGen gnomAD |
|
|
CA413655591 rs1569280977 |
7 | A>T | No |
ClinGen Ensembl |
|
|
rs1206189090 CA413655596 |
7 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10454356 rs746783950 |
8 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA331275941 rs933036653 |
9 | E>Q | No |
ClinGen gnomAD |
|
|
rs1197560571 CA413655651 |
15 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs757187007 CA10454357 |
18 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA413655681 rs1470979712 |
19 | D>E | No |
ClinGen gnomAD |
|
|
CA413655688 rs1188921948 |
20 | Q>L | No |
ClinGen gnomAD |
|
|
CA413655687 rs1188921948 |
20 | Q>R | No |
ClinGen gnomAD |
|
|
rs1310705934 CA413655699 |
22 | Q>K | No |
ClinGen TOPMed |
|
|
rs1397774273 CA413655707 |
23 | Q>K | No |
ClinGen gnomAD |
|
|
rs1464927812 CA413655715 |
24 | E>K | No |
ClinGen gnomAD |
|
|
CA331275942 rs888801026 |
25 | P>L | No |
ClinGen TOPMed |
|
|
CA413655727 rs888801026 |
25 | P>R | No |
ClinGen TOPMed |
|
|
rs1329741971 CA413655725 |
25 | P>S | No |
ClinGen gnomAD |
|
|
rs1434645448 CA413655736 |
27 | G>D | No |
ClinGen gnomAD |
|
|
rs745998356 CA10454359 |
27 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413655740 rs1276852583 |
28 | S>G | No |
ClinGen TOPMed |
|
|
rs769996265 CA10454360 |
28 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10454362 rs775651116 |
30 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs749541995 CA10454363 |
31 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866321652 CA331275943 |
31 | P>S | No |
ClinGen Ensembl |
|
|
rs6647476 CA413655772 |
33 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA643005908 rs1569281020 |
33 | S>* | No |
ClinGen Ensembl |
|
|
rs1317631290 CA413655778 |
34 | E>* | No |
ClinGen gnomAD |
|
|
rs1175277025 CA413655789 |
35 | P>L | No |
ClinGen TOPMed |
|
|
CA413655785 rs1215559026 |
35 | P>S | No |
ClinGen gnomAD |
|
|
TCGA novel rs774617967 CA10454364 |
37 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA413655799 rs774617967 |
37 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA10454368 rs773766802 |
38 | E>* | No |
ClinGen ExAC |
|
|
CA10454369 rs761022855 |
39 | P>S | No |
ClinGen ExAC |
|
|
rs752157375 CA10454371 |
40 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413655815 rs752157375 |
40 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10454374 rs763709598 |
41 | P>S | No |
ClinGen ExAC |
|
|
rs757067908 CA10454375 |
42 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1020396309 CA331275945 |
43 | P>H | No |
ClinGen TOPMed |
|
|
CA10454376 rs780780668 |
44 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1199581637 CA413655848 |
45 | P>L | No |
ClinGen TOPMed |
|
|
CA413655850 rs1168259780 |
46 | V>M | No |
ClinGen gnomAD |
|
|
rs1421465649 CA413655858 |
47 | P>S | No |
ClinGen gnomAD |
|
|
CA413655864 rs1323149896 |
48 | P>S | No |
ClinGen gnomAD |
|
|
rs1406873279 CA413655873 |
49 | P>L | No |
ClinGen gnomAD |
|
|
CA10454379 rs780311825 |
55 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs749347825 CA10454380 |
56 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA331275946 rs907320899 |
61 | P>L | No |
ClinGen Ensembl |
|
|
rs1227307516 CA413655955 |
62 | A>V | No |
ClinGen TOPMed |
|
|
CA413655972 rs748528906 |
65 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs748528906 CA10454383 |
65 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1260477936 CA413655977 |
66 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 70 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1397205603 CA413656001 |
70 | E>K | No |
ClinGen TOPMed |
|
|
CA413656015 rs1379945757 |
72 | E>K | No |
ClinGen TOPMed |
|
|
CA413656025 rs772492116 |
73 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA10454384 rs772492116 |
73 | R>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 73 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1006597718 CA413656064 |
79 | P>S | No |
ClinGen gnomAD |
|
|
CA331275949 rs1006597718 |
79 | P>T | No |
ClinGen gnomAD |
|
|
RCV000194597 rs797045964 CA208861 |
80 | T>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA413656072 rs797045964 |
80 | T>R | No |
ClinGen Ensembl |
|
|
CA413656077 rs1156912984 |
81 | P>R | No |
ClinGen gnomAD |
|
|
CA413656073 rs1426838485 |
81 | P>T | No |
ClinGen gnomAD |
|
|
rs1383200931 CA413656083 |
82 | T>K | No |
ClinGen gnomAD |
|
|
rs1339023960 CA413656097 CA413656096 |
84 | E>D | No |
ClinGen gnomAD |
|
|
CA10454389 rs762432490 |
86 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA331275951 rs891497471 |
86 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs762432490 CA413656104 |
86 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367986149 CA10454390 |
87 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1179471488 CA413656120 |
89 | A>G | No |
ClinGen TOPMed |
|
|
CA413656124 rs1212806180 |
90 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1205589862 CA413656125 |
90 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA413656129 rs1027954625 |
91 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA413656130 rs1195545570 |
91 | G>D | No |
ClinGen TOPMed |
|
|
CA331275953 rs1027954625 |
91 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10454394 rs750143159 |
93 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA10454395 rs756160339 |
94 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA413656158 rs1257123759 |
96 | E>K | No |
ClinGen gnomAD |
|
|
CA413656186 rs1177004258 |
100 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs780117662 CA10454396 |
102 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA413656219 rs1243333835 |
105 | F>V | No |
ClinGen TOPMed |
|
|
RCV000173412 rs794726931 CA238871 |
106 | A>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1569281190 RCV000727602 CA413656250 |
109 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000173414 CA274912 rs794726932 |
109 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1454392493 CA413656299 |
116 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 116 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs794726933 RCV000173415 CA274914 |
118 | H>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1356620718 CA413656339 |
123 | I>F | No |
ClinGen TOPMed |
|
|
CA413656400 rs1337787760 |
131 | E>D | No |
ClinGen gnomAD |
|
|
rs755104473 CA10454398 |
132 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA10454399 rs778793968 |
134 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA413656416 rs1454189635 |
134 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 136 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 136 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10454400 rs748417356 |
137 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs866305011 CA331283605 |
148 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 153 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413656636 rs1283872852 |
163 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10454411 rs760533918 |
167 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs766492237 CA10454412 |
167 | R>H | Variant assessed as Somatic; 6.246e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA413656686 rs1602140961 RCV000995960 |
171 | R>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs753832797 CA10454413 |
175 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1197846957 CA413656715 |
176 | A>T | No |
ClinGen gnomAD |
|
|
CA10454415 rs779074769 |
176 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs777840527 CA413656724 |
178 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10454418 rs777840527 |
178 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777840527 CA331283606 |
178 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1332546717 CA413656733 |
179 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 180 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1170167114 CA413656755 |
183 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1170167114 CA413656753 |
183 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1374055898 CA413656757 |
183 | I>T | No |
ClinGen gnomAD |
|
|
rs1170167114 CA413656754 |
183 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 188 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375483786 CA10454421 |
191 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 192 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10454442 rs747769024 |
195 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 195 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413656857 rs1163649493 |
197 | R>C | No |
ClinGen gnomAD |
|
| TCGA novel | 200 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000177261 CA243398 rs794727509 |
202 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10454444 rs773056052 |
209 | C>W | No |
ClinGen ExAC gnomAD |
|
|
RCV000500549 CA10454445 rs746493490 |
210 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA dbSNP |
|
CA10454447 rs376266144 |
212 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10454448 rs759410438 |
215 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs765020281 CA10454449 |
218 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10454452 rs764282182 |
226 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10454453 rs751821747 |
227 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA331283832 rs953306001 |
237 | A>V | No |
ClinGen Ensembl |
|
|
CA331283833 rs12849479 |
240 | S>N | No |
ClinGen Ensembl |
|
|
rs201780420 CA10454456 |
242 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs756584348 CA10454457 |
244 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 245 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10454458 rs780676877 |
249 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1386499285 CA413657217 |
252 | M>I | No |
ClinGen gnomAD |
|
|
CA413657249 rs1158239899 |
257 | I>V | No |
ClinGen gnomAD |
|
|
CA10454460 rs755441517 |
259 | L>V | No |
ClinGen ExAC |
|
|
CA413657299 rs1419890856 |
264 | Q>L | No |
ClinGen TOPMed |
|
| TCGA novel | 267 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10454461 rs777534956 |
267 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA413657331 rs1405173746 |
269 | F>C | No |
ClinGen gnomAD |
|
|
rs1555989695 CA413657344 RCV000520356 |
271 | F>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA413657352 rs1362271039 |
272 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 273 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413657370 rs1453574320 |
274 | M>I | No |
ClinGen gnomAD |
|
|
rs746687672 CA10454462 |
275 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA413657372 rs746687672 |
275 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 277 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA222958 rs398124231 RCV000301793 |
280 | Y>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs925149010 CA331283836 |
281 | R>Q | No |
ClinGen Ensembl |
|
|
CA331283835 rs979337722 |
281 | R>W | No |
ClinGen gnomAD |
|
|
CA10454464 rs776291109 |
286 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs200613847 CA331283838 |
290 | T>I | No |
ClinGen 1000Genomes |
|
|
rs377614966 CA10454465 |
291 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs12849757 CA10454466 |
292 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413657499 rs1262836450 |
295 | G>V | No |
ClinGen gnomAD |
|
|
rs762626859 CA10454467 |
296 | V>A | No |
ClinGen ExAC gnomAD |
|
|
RCV000502123 rs780086745 CA10454469 |
297 | R>H | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs780086745 CA413657509 |
297 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000520507 rs1555989715 CA413657505 |
297 | R>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10454470 rs762037346 |
298 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 298 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1176102294 CA413657520 |
300 | H>N | No |
ClinGen gnomAD |
|
|
CA413657523 rs1408157354 |
300 | H>R | No |
ClinGen gnomAD |
|
|
CA10454471 rs767519023 |
302 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs750465734 CA10454472 |
302 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1284088967 CA413657600 |
311 | F>S | No |
ClinGen TOPMed |
|
| TCGA novel | 313 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10454475 rs754407281 |
315 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA413657652 rs1375705723 |
319 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1489135756 CA413657653 |
319 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 320 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779440000 CA10454476 |
322 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA331283842 rs12849411 VAR_057723 |
323 | I>L | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs751195298 CA10454477 |
325 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 326 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413657712 rs1225688712 |
328 | I>T | No |
ClinGen gnomAD |
|
|
CA413657721 rs1256582027 |
330 | A>T | No |
ClinGen gnomAD |
|
|
CA413657728 rs1273705549 |
331 | A>P | No |
ClinGen TOPMed |
|
|
CA413657739 rs1481359228 |
333 | L>F | No |
ClinGen gnomAD |
|
|
rs1260738808 CA413657848 |
346 | V>A | No |
ClinGen TOPMed |
|
|
CA413657928 rs1380635081 |
357 | W>S | No |
ClinGen gnomAD |
|
|
rs1201591899 CA413657934 |
358 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 367 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413658055 rs1422998437 |
377 | I>M | No |
ClinGen gnomAD |
|
|
CA413658064 rs1163109289 RCV000656278 |
379 | D>N | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1280405304 CA413658072 |
380 | S>T | No |
ClinGen TOPMed |
|
| TCGA novel | 383 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10454506 rs367821202 |
392 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773263889 CA10454507 |
402 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 403 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10454509 rs770854933 |
408 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760971939 CA10454508 |
408 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413658290 rs1424610738 |
411 | G>E | No |
ClinGen TOPMed |
|
|
CA10454511 CA10454512 rs147814121 |
411 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413658295 rs1602143358 |
412 | G>C | No |
ClinGen Ensembl |
|
|
rs1312142074 CA413658296 |
412 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 415 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1049487 CA10454513 |
415 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1049487 CA10454514 |
415 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1320619530 CA413658320 |
416 | V>A | No |
ClinGen gnomAD |
|
|
rs1602143378 CA413658341 |
419 | F>L | No |
ClinGen Ensembl |
|
|
rs1449997865 CA413658380 |
425 | G>A | No |
ClinGen gnomAD |
|
|
CA10454517 rs755797934 |
434 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 437 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 446 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA331284109 rs1021215564 |
449 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA413658577 CA413658576 rs1205648195 |
454 | M>I | No |
ClinGen gnomAD |
|
|
rs1349793680 CA413658569 |
454 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs753333178 CA10454519 |
456 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA413658589 rs1459856785 |
456 | A>V | No |
ClinGen gnomAD |
|
|
CA413658605 rs1244015830 |
459 | M>L | No |
ClinGen gnomAD |
|
| TCGA novel | 459 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10454532 rs774774554 |
469 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs762142912 CA10454533 |
470 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10454534 rs371961817 |
470 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
RCV001008163 rs1602144059 |
472 | C>missing | No |
ClinVar dbSNP |
|
|
CA10454535 rs753529265 |
473 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1164319658 CA413658756 |
474 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 474 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754443385 CA10454536 |
477 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 479 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752570148 CA10454538 |
484 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA331284238 rs375236134 |
492 | V>I | No |
ClinGen ESP |
|
|
CA413659033 rs1254426600 |
497 | V>I | No |
ClinGen TOPMed |
|
|
CA413659047 rs1180425161 |
498 | P>S | No |
ClinGen TOPMed |
|
|
rs746802653 CA10454541 |
500 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413659085 rs1340361365 |
501 | H>Q | No |
ClinGen gnomAD |
|
|
CA10454543 rs781528210 |
502 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1181598841 CA413659112 |
504 | M>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 504 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413659126 rs1357846824 |
505 | F>L | No |
ClinGen TOPMed |
|
|
CA413659165 rs1263372106 |
508 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 509 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1243627396 CA413659194 |
510 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 513 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746117006 CA10454544 |
513 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1190533506 CA413659353 |
523 | D>E | No |
ClinGen gnomAD |
|
|
rs769939296 CA413659357 |
524 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA10454545 rs769939296 |
524 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA413659354 rs1290018291 |
524 | P>T | No |
ClinGen TOPMed |
|
|
CA331284240 rs867151583 |
525 | N>S | No |
ClinGen gnomAD |
|
|
CA331284241 rs891238300 |
526 | G>E | No |
ClinGen Ensembl |
|
|
rs749396500 CA10454547 |
530 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201083352 CA331284242 |
531 | G>V | No |
ClinGen Ensembl |
|
| TCGA novel | 534 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413659477 rs1388647734 |
537 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs772456411 CA10454550 |
538 | P>S | No |
ClinGen ExAC |
1 associated diseases with P36021
[MIM: 300523]: Monocarboxylate transporter 8 deficiency (MCT8 deficiency)
Consists of a severe form of X-linked psychomotor retardation combined with abnormal thyroid hormone (TH) levels. Thyroid hormone deficiency can be caused by defects of hormone synthesis and action, but it has also been linked to a defect in cellular hormone transport. Affected patients are males with abnormal relative concentrations of three circulating iodothyronines, as well as severe neurological abnormalities, including global developmental delay, central hypotonia, spastic quadriplegia, dystonic movements, rotary nystagmus, and impaired gaze and hearing. Heterozygous females had a milder thyroid phenotype and no neurological defects. {ECO:0000269|PubMed:14661163, ECO:0000269|PubMed:15488219, ECO:0000269|PubMed:15889350, ECO:0000269|PubMed:18636565, ECO:0000269|PubMed:23550058, ECO:0000269|PubMed:25380603, ECO:0000269|PubMed:25527620, ECO:0000269|PubMed:26426690, ECO:0000269|PubMed:27805744, ECO:0000269|Ref.10}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- Consists of a severe form of X-linked psychomotor retardation combined with abnormal thyroid hormone (TH) levels. Thyroid hormone deficiency can be caused by defects of hormone synthesis and action, but it has also been linked to a defect in cellular hormone transport. Affected patients are males with abnormal relative concentrations of three circulating iodothyronines, as well as severe neurological abnormalities, including global developmental delay, central hypotonia, spastic quadriplegia, dystonic movements, rotary nystagmus, and impaired gaze and hearing. Heterozygous females had a milder thyroid phenotype and no neurological defects. {ECO:0000269|PubMed:14661163, ECO:0000269|PubMed:15488219, ECO:0000269|PubMed:15889350, ECO:0000269|PubMed:18636565, ECO:0000269|PubMed:23550058, ECO:0000269|PubMed:25380603, ECO:0000269|PubMed:25527620, ECO:0000269|PubMed:26426690, ECO:0000269|PubMed:27805744, ECO:0000269|Ref.10}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for P36021
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Major facilitator superfamily domain | 320 - 539 | IPR020846 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| integral component of membrane | The component of a 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. |
| integral component of plasma membrane | The component of the plasma 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| amino acid transmembrane transporter activity | Enables the transfer of amino acids from one side of a membrane to the other. Amino acids are organic molecules that contain an amino group and a carboxyl group. |
| identical protein binding | Binding to an identical protein or proteins. |
| monocarboxylic acid transmembrane transporter activity | Enables the transfer of monocarboxylic acids from one side of a membrane to the other. A monocarboxylic acid is an organic acid with one COOH group. |
| symporter activity | Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported together in the same direction in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy. |
| thyroid hormone transmembrane transporter activity | Enables the transfer of thyroid hormones from one side of a membrane to the other. Thyroid hormone are any of the compounds secreted by the thyroid gland, largely thyroxine and triiodothyronine. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| amino acid import across plasma membrane | The directed movement of an amino acid from outside of a cell, across the plasma membrane and into the cytosol. |
| cellular amino acid metabolic process | The chemical reactions and pathways involving amino acids, carboxylic acids containing one or more amino groups, as carried out by individual cells. |
| monocarboxylic acid transport | The directed movement of monocarboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| negative regulation of neural precursor cell proliferation | Any process that stops, prevents, or reduces the frequency, rate or extent of neural precursor cell proliferation. |
| thyroid hormone generation | The formation of either of the compounds secreted by the thyroid gland, mainly thyroxine and triiodothyronine. This is achieved by the iodination and joining of tyrosine molecules to form the precursor thyroglobin, proteolysis of this precursor gives rise to the thyroid hormones. |
| thyroid hormone metabolic process | The chemical reactions and pathways involving any of the compounds secreted by the thyroid gland, largely thyroxine and triiodothyronine. |
| thyroid hormone transport | The directed movement of thyroid hormone into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| thyroid-stimulating hormone secretion | The regulated release of thyroid-stimulating hormone, a peptide hormone that stimulates the activity of the thyroid gland, from secretory granules in the anterior pituitary. |
| transport across blood-brain barrier | The directed movement of substances (e.g. macromolecules, small molecules, ions) through the blood-brain barrier. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P57788 | SLC16A3 | Monocarboxylate transporter 4 | Gallus gallus (Chicken) | PR |
| Q8TF71 | SLC16A10 | Monocarboxylate transporter 10 | Homo sapiens (Human) | PR |
| Q8R0M8 | Slc16a4 | Monocarboxylate transporter 5 | Mus musculus (Mouse) | PR |
| O35308 | Slc16a8 | Monocarboxylate transporter 3 | Mus musculus (Mouse) | PR |
| P57787 | Slc16a3 | Monocarboxylate transporter 4 | Mus musculus (Mouse) | PR |
| O70324 | Slc16a2 | Monocarboxylate transporter 8 | Mus musculus (Mouse) | PR |
| O70461 | Slc16a8 | Monocarboxylate transporter 3 | Rattus norvegicus (Rat) | PR |
| A1L1W9 | slc16a10 | Monocarboxylate transporter 10 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MALQSQASEE | AKGPWQEADQ | EQQEPVGSPE | PESEPEPEPE | PEPVPVPPPE | PQPEPQPLPD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PAPLPELEFE | SERVHEPEPT | PTVETRGTAR | GFQPPEGGFG | WVVVFAATWC | NGSIFGIHNS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VGILYSMLLE | EEKEKNRQVE | FQAAWVGALA | MGMIFFCSPI | VSIFTDRLGC | RITATAGAAV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AFIGLHTSSF | TSSLSLRYFT | YGILFGCGCS | FAFQPSLVIL | GHYFQRRLGL | ANGVVSAGSS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IFSMSFPFLI | RMLGDKIKLA | QTFQVLSTFM | FVLMLLSLTY | RPLLPSSQDT | PSKRGVRTLH |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QRFLAQLRKY | FNMRVFRQRT | YRIWAFGIAA | AALGYFVPYV | HLMKYVEEEF | SEIKETWVLL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VCIGATSGLG | RLVSGHISDS | IPGLKKIYLQ | VLSFLLLGLM | SMMIPLCRDF | GGLIVVCLFL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GLCDGFFITI | MAPIAFELVG | PMQASQAIGY | LLGMMALPMI | AGPPIAGLLR | NCFGDYHVAF |
| 490 | 500 | 510 | 520 | 530 | |
| YFAGVPPIIG | AVILFFVPLM | HQRMFKKEQR | DSSKDKMLAP | DPDPNGELLP | GSPNPEEPI |