P34949
PR
Gene name |
MPI (PMI1) |
Protein name |
Mannose-6-phosphate isomerase |
Names |
Phosphohexomutase, Phosphomannose isomerase, PMI |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4351 |
EC number |
5.3.1.8: Interconverting aldoses and ketoses |
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 P34949
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P34949-F1 | Predicted | AlphaFoldDB |
388 variants for P34949
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000668684 rs1555478015 |
1 | M>missing | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000493947 rs528828174 RCV000984196 |
1 | M>V | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs770421382 CA7662268 RCV000553446 |
3 | A>T | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs143982014 RCV000601989 RCV000391232 CA7662269 RCV000512728 |
4 | P>S | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA393168612 RCV000669767 rs1452559752 |
5 | R>* | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2064708840 RCV001209918 |
11 | C>W | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs371649838 CA272821715 RCV000701619 |
15 | Q>H | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
RCV001796255 rs376746368 CA7662325 RCV000821114 |
21 | M>V | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001245427 rs753839890 |
29 | R>missing | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000672602 rs1555478118 |
30 | L>missing | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596440893 RCV001336465 |
32 | A>V | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000411654 rs1057516466 |
40 | I>missing | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs779821212 RCV000667987 CA7662341 |
41 | A>T | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_022516 CA7662379 rs764835081 |
51 | M>T | CDG1B [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
RCV000169342 rs786204593 |
56 | R>missing | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7662384 RCV001055884 rs757168691 |
56 | R>* | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7662385 rs200452019 RCV001241067 |
56 | R>Q | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA393170913 rs1225376562 RCV001310276 |
57 | G>R | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP ClinGen gnomAD |
|
rs146699267 RCV003151138 CA7662393 RCV001706704 RCV000709781 |
72 | S>R | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA257211 VAR_012338 RCV000015420 COSM1301426 rs104894494 |
102 | S>L | MPI-congenital disorder of glycosylation Variant assessed as Somatic; 0.0 impact. urinary_tract CDG1B [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs887249336 CA272823148 VAR_022517 |
129 | Y>C | CDG1B [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
VAR_022518 COSM964932 rs566620411 CA7662430 |
131 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium CDG1B [NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001083362 RCV000523642 RCV001821456 CA7662433 rs150217523 |
138 | M>I | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000015421 rs104894495 VAR_012339 CA257212 |
138 | M>T | MPI-congenital disorder of glycosylation CDG1B [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_012345 rs773678732 CA7662435 |
140 | I>T | CDG1B [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001119418 rs2064746068 |
149 | C>R | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001344022 rs766458792 |
152 | R>P | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs766458792 VAR_022519 CA7662441 |
152 | R>Q | CDG1B [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000393009 CA10646608 rs886051482 |
158 | V>I | MPI-congenital disorder of glycosylation Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs1256364766 CA393174224 RCV001223678 |
176 | A>V | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000671129 rs1555478582 |
178 | H>* | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555478606 RCV000674891 |
210 | V>missing | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs781158335 CA7662476 RCV001277746 |
210 | V>M | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1374119101 RCV001045605 |
211 | E>missing | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16041749 rs1057516424 RCV000410869 |
218 | K>* | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
VAR_012340 RCV000015419 rs104894489 RCV001818161 CA257210 |
219 | R>Q | MPI-congenital disorder of glycosylation CDG1B [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs760911969 CA7662485 RCV001829482 RCV000523436 |
221 | S>C | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000367970 CA10647407 rs765912695 |
232 | D>G | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000410979 CA7662530 rs749911553 |
243 | Q>* | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1057517115 RCV000409548 |
247 | G>missing | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs557366025 CA7662532 RCV001277748 |
247 | G>S | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000593845 CA7662536 rs748090636 RCV000671942 VAR_022520 |
250 | G>S | MPI-congenital disorder of glycosylation CDG1B [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
| VAR_022521 | 255 | Y>C | CDG1B [UniProt] | Yes | UniProt |
|
RCV001277749 rs2064816825 |
261 | T>A | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001121409 rs2064817105 |
265 | G>R | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000989360 CA393176023 rs1595822583 |
266 | E>K | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555479227 RCV000666756 |
268 | M>missing | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7662546 RCV002556612 rs150525282 RCV001121410 |
273 | N>S | MPI-congenital disorder of glycosylation Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555479351 RCV000665285 |
294 | V>missing | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs28928906 VAR_022522 RCV000015423 CA257213 |
295 | R>H | MPI-congenital disorder of glycosylation CDG1B [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs534508637 RCV001121411 CA7662597 |
301 | K>R | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000982361 rs139866632 CA7662598 |
303 | I>T | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555479384 RCV000665666 |
318 | S>missing | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7662606 rs199956743 RCV001277750 |
326 | P>R | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001083811 CA147584 rs117089191 RCV000080017 RCV000224183 |
328 | R>W | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000673079 rs1555479423 |
331 | E>missing | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1223295146 RCV001332132 CA393177982 |
331 | E>A | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1555479441 RCV000673145 |
342 | V>missing | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001116513 rs2064831979 |
344 | D>E | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
CA147575 RCV000528736 rs116933453 RCV000080010 |
350 | T>M | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001390335 rs2064839839 RCV001311056 |
355 | S>missing | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2064840019 RCV001116515 |
357 | T>A | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555479551 RCV000536635 CA393179028 |
366 | S>P | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001277752 rs753458883 CA7662649 |
374 | Q>H | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001332131 rs2064840907 |
375 | G>E | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001116516 CA7662654 rs141660799 |
380 | S>N | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7662658 RCV001277753 rs769768397 |
386 | T>S | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM3744756 rs751962765 CA7662662 RCV000809087 |
392 | R>C | MPI-congenital disorder of glycosylation liver [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs762164813 CA7662663 RCV000385054 |
392 | R>H | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000549138 rs201815588 CA7662664 |
393 | G>A | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001067096 rs369326210 CA7662666 VAR_022523 |
398 | I>T | MPI-congenital disorder of glycosylation CDG1B [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs863225086 RCV000202323 CA279841 |
402 | E>G | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs147817691 CA7662670 RCV001277754 |
411 | P>L | MPI-congenital disorder of glycosylation Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM1478357 VAR_022524 CA279842 RCV000202324 rs863225087 |
418 | R>H | MPI-congenital disorder of glycosylation Variant assessed as Somatic; 0.0 impact. breast CDG1B [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
RCV000666494 CA393179998 rs1555479632 |
420 | C>* | MPI-congenital disorder of glycosylation [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1254866437 CA393168555 |
2 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA393168589 rs1265892778 |
3 | A>G | No |
ClinGen TOPMed |
|
|
rs770421382 CA393168577 |
3 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1567263775 CA393168603 |
4 | P>L | No |
ClinGen Ensembl |
|
|
rs1567263775 CA393168600 |
4 | P>R | No |
ClinGen Ensembl |
|
|
CA7662270 rs759385120 |
5 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA272821399 rs759385120 |
5 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs946927722 CA272821400 |
6 | V>I | No |
ClinGen TOPMed |
|
|
CA393168627 rs946927722 |
6 | V>L | No |
ClinGen TOPMed |
|
|
CA7662318 rs753133485 |
10 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA393168943 rs753133485 |
10 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs758921571 CA7662319 |
11 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA393169007 rs1382095161 |
14 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA7662320 rs150404817 |
14 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749914784 CA393169033 |
16 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7662321 rs749914784 |
16 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA272821721 rs960734346 |
17 | A>S | No |
ClinGen Ensembl |
|
|
CA393169083 rs1282146791 |
19 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7662323 rs779832985 |
20 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1471146448 CA393169127 |
21 | M>I | No |
ClinGen TOPMed |
|
|
rs778966484 CA7662327 |
21 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs778966484 CA7662326 |
21 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs771925493 CA7662328 |
22 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1452964686 TCGA novel CA393169161 |
23 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
rs746378460 CA272821743 |
24 | N>I | No |
ClinGen Ensembl |
|
|
rs760694473 CA7662330 |
26 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596440826 CA393169227 |
26 | E>D | No |
ClinGen Ensembl |
|
|
rs760694473 CA393169205 |
26 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368328510 CA272821744 |
27 | V>L | No |
ClinGen ESP TOPMed |
|
|
CA7662333 rs776716451 |
29 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs771189485 CA7662332 |
29 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1419824964 CA393169285 |
30 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA393169314 rs753043673 |
31 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs765537697 CA7662335 |
31 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7662336 rs753043673 |
31 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA393169348 rs1596440893 |
32 | A>G | No |
ClinGen Ensembl |
|
|
rs763585470 CA272821766 |
33 | S>C | No |
ClinGen ExAC |
|
|
rs763585470 CA7662337 |
33 | S>G | No |
ClinGen ExAC |
|
|
rs952139459 CA272821782 |
34 | S>N | No |
ClinGen TOPMed |
|
|
rs1596440910 CA393169411 |
34 | S>R | No |
ClinGen Ensembl |
|
|
rs1367981360 CA393169434 |
35 | D>E | No |
ClinGen gnomAD |
|
|
rs764648534 CA7662338 |
35 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs750003143 CA7662339 |
36 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA7662340 rs755656144 |
37 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs201217606 CA272821803 |
38 | A>V | No |
ClinGen 1000Genomes |
|
|
rs1395810504 CA393169561 |
40 | I>M | No |
ClinGen Ensembl |
|
|
rs372226364 CA7662342 |
41 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393169588 rs1316039664 |
42 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1293697697 CA393169620 |
43 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1293697697 CA393169622 |
43 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA393169679 rs1221660842 |
45 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA393169691 rs1246142183 |
46 | Y>H | No |
ClinGen gnomAD |
|
|
rs1246142183 CA393169689 |
46 | Y>N | No |
ClinGen gnomAD |
|
|
CA393169729 rs1179088321 |
47 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs201856169 CA272821826 |
47 | A>S | No |
ClinGen gnomAD |
|
|
CA393170700 rs1406722622 |
50 | W>* | No |
ClinGen gnomAD |
|
|
rs1366088975 CA393170674 |
50 | W>R | No |
ClinGen gnomAD |
|
|
CA7662380 rs752339342 |
51 | M>I | No |
ClinGen ExAC |
|
|
CA7662378 rs759060141 |
51 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA393170810 rs757990859 |
54 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596442107 CA393170822 |
54 | H>P | No |
ClinGen Ensembl |
|
|
rs757990859 CA7662381 |
54 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7662383 rs751320033 |
55 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7662386 rs750510350 |
57 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 60 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393171017 rs1450529645 |
61 | I>V | No |
ClinGen gnomAD |
|
|
CA393171043 rs780479484 |
62 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7662388 rs780479484 |
62 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393171088 rs1468326053 |
64 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs749533638 CA7662390 |
65 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs749533638 CA393171119 |
65 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA7662391 rs768931867 |
65 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs768931867 CA393171125 |
65 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs749533638 CA393171113 |
65 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA7662395 rs568011248 |
76 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759032019 CA7662396 |
78 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs769362236 CA7662397 |
80 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393171447 rs1444877183 |
80 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA393171443 rs1444877183 |
80 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs978284448 CA272822398 |
84 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs774917281 CA7662398 |
86 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1207645277 CA393171704 |
90 | F>L | No |
ClinGen TOPMed |
|
|
rs1195848550 CA393171765 |
92 | G>S | No |
ClinGen gnomAD |
|
|
CA7662399 rs762629491 |
93 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 93 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1435677254 CA393171834 |
95 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 97 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7662400 rs763691280 |
100 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1353562948 CA393172004 |
101 | L>F | No |
ClinGen gnomAD |
|
|
CA393172067 rs1376428111 |
103 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA393172075 rs1439270419 |
104 | E>* | No |
ClinGen TOPMed |
|
|
CA7662402 rs556978187 |
105 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1332019894 CA393172144 |
107 | L>P | No |
ClinGen TOPMed |
|
|
rs780285052 CA7662405 |
111 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs753928850 CA7662406 |
112 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs753928850 CA272822450 |
112 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs995939840 CA393173329 |
116 | E>D | No |
ClinGen gnomAD |
|
|
CA7662422 rs377074383 |
117 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1206748497 CA393173338 |
118 | A>E | No |
ClinGen gnomAD |
|
| TCGA novel | 118 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393173350 rs1260900758 |
120 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1260900758 CA393173349 |
120 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1439024206 CA393173353 |
120 | K>R | No |
ClinGen TOPMed |
|
|
CA393173365 rs1595817960 |
122 | H>P | No |
ClinGen Ensembl |
|
|
CA272823087 rs954591103 |
124 | Q>L | No |
ClinGen Ensembl |
|
|
rs755077601 CA7662424 |
125 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs765621023 CA7662425 |
126 | P>L | Variant assessed as Somatic; 0.0007394 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs151030809 CA7662427 |
128 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA272823147 rs907858042 |
129 | Y>H | No |
ClinGen Ensembl |
|
|
rs887249336 CA393173412 |
129 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7662428 rs201189076 |
130 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA272823149 rs202119520 |
130 | P>S | No |
ClinGen 1000Genomes |
|
|
CA393173437 rs1417319890 |
133 | N>I | No |
ClinGen TOPMed |
|
|
rs781645082 CA7662432 |
136 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA272823200 rs760208119 |
140 | I>V | No |
ClinGen Ensembl |
|
|
rs368931988 CA393173507 |
144 | P>H | No |
ClinGen ESP gnomAD |
|
|
rs368931988 CA272823222 |
144 | P>L | No |
ClinGen ESP gnomAD |
|
|
CA7662437 rs555471556 |
144 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766458792 CA7662440 |
152 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760519827 CA7662439 |
152 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 153 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759745815 CA393173660 |
155 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759745815 CA7662442 |
155 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393173687 rs1595818118 |
156 | E>G | No |
ClinGen Ensembl |
|
|
CA393173678 rs1251860671 |
156 | E>K | No |
ClinGen TOPMed |
|
|
CA393173752 rs1595818133 |
159 | T>N | No |
ClinGen Ensembl |
|
|
CA7662443 rs765418768 |
160 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA7662445 rs758670102 |
162 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs981236841 CA272823532 |
169 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
CA393174134 rs1227673380 |
171 | I>T | No |
ClinGen gnomAD |
|
|
CA393174154 rs1312022883 |
172 | G>V | No |
ClinGen gnomAD |
|
|
rs769569870 CA7662460 |
173 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1200674107 CA393174184 |
174 | E>K | No |
ClinGen gnomAD |
|
|
rs1256364766 CA393174222 |
176 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA393174217 rs1262821524 |
176 | A>T | No |
ClinGen TOPMed |
|
|
CA272823541 rs771926521 |
177 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA393174245 rs1204655433 |
178 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA393174248 rs1204655433 |
178 | H>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 184 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1223590506 CA393174397 |
184 | S>T | No |
ClinGen TOPMed |
|
|
CA7662462 rs762911151 |
186 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs199568830 CA272823551 |
187 | S>F | No |
ClinGen TOPMed |
|
|
rs764447061 CA7662463 |
188 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA272823563 rs939320011 |
193 | S>T | No |
ClinGen TOPMed |
|
|
rs761968053 CA7662465 |
196 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750743532 CA7662467 |
200 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7662466 rs767875252 |
200 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA7662469 rs780400102 |
203 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7662470 rs752287684 |
204 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA7662471 rs752287684 |
204 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA10605239 RCV000271464 rs886043207 |
204 | S>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA7662474 rs142123160 |
207 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7662475 rs146006563 |
207 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs756522536 | 207 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1309358071 CA393174685 |
208 | V>L | No |
ClinGen TOPMed |
|
|
rs769810913 CA7662478 |
211 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7662479 rs775284878 |
212 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA393174734 rs775284878 |
212 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA393174766 rs1190823083 |
214 | N>S | No |
ClinGen gnomAD |
|
|
CA7662481 rs768635142 |
214 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7662482 rs774351484 |
217 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs774351484 CA393174800 |
217 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA393174815 rs1173955006 |
218 | K>M | No |
ClinGen gnomAD |
|
|
rs104894489 CA393174828 |
219 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138891630 CA7662484 |
219 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760911969 CA272823648 |
221 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1202432300 CA393174842 |
221 | S>T | No |
ClinGen TOPMed |
|
|
rs1296346165 CA393174875 |
223 | Q>P | No |
ClinGen gnomAD |
|
| rs768186349 | 224 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7662517 rs373222545 |
224 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393175768 rs727504018 |
226 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA7662519 rs748290939 |
226 | A>S | No |
ClinGen ExAC gnomAD |
|
|
RCV000153509 rs727504018 CA234280 |
226 | A>V | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA7662521 rs747198298 |
227 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 228 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs367893149 CA272825414 |
230 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367893149 CA7662523 |
230 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393175808 rs765912695 |
232 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759916229 CA7662524 |
232 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7662525 rs765912695 |
232 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776129095 CA7662526 |
233 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs776129095 CA393175811 |
233 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1332769798 CA393175821 |
234 | F>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 236 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767145258 CA7662529 |
237 | L>I | No |
ClinGen ExAC TOPMed |
|
|
rs767145258 CA393175839 |
237 | L>V | No |
ClinGen ExAC TOPMed |
|
|
CA272825442 rs776340315 |
240 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1373231619 CA393175904 |
246 | P>R | No |
ClinGen gnomAD |
|
|
rs201676072 CA7662534 |
249 | I>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA393175922 rs201676072 |
249 | I>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 250 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393175924 rs748090636 |
250 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1194425483 CA393175930 |
251 | C>R | No |
ClinGen gnomAD |
|
|
CA7662537 rs191159836 |
251 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA393175937 rs1170222903 |
252 | F>C | No |
ClinGen gnomAD |
|
|
rs543652740 CA7662539 |
252 | F>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7662538 rs543652740 |
252 | F>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7662540 rs771100056 |
253 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA7662541 rs746276252 |
255 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1442151213 CA393175965 |
256 | F>S | No |
ClinGen TOPMed |
|
|
rs1299431062 CA393175989 |
260 | L>F | No |
ClinGen gnomAD |
|
|
CA393176002 rs1398918834 |
262 | L>P | No |
ClinGen gnomAD |
|
|
CA393176015 rs141650977 |
264 | P>H | No |
ClinGen ESP TOPMed |
|
|
CA272825505 rs141650977 |
264 | P>L | No |
ClinGen ESP TOPMed |
|
|
CA393176020 rs1230728792 |
265 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA393176040 rs1169592252 |
268 | M>T | No |
ClinGen TOPMed |
|
|
rs763589568 CA7662544 |
268 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA272825513 rs979231891 |
270 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs769238714 CA7662545 |
272 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs576592379 CA272825526 |
273 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766010024 CA7662548 |
274 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs540858898 CA7662549 |
275 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759130781 CA7662550 |
277 | A>T | No |
ClinGen ExAC TOPMed |
|
|
rs200808502 CA7662551 |
278 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs752447493 CA7662552 |
281 | G>* | No |
ClinGen ExAC gnomAD |
|
|
CA7662553 rs758352713 |
281 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168083953 CA393177027 |
282 | D>E | No |
ClinGen gnomAD |
|
|
CA393176125 rs1595822660 |
282 | D>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 283 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393177036 rs1418395401 |
283 | C>Y | No |
ClinGen gnomAD |
|
|
CA7662588 rs745358856 |
284 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393177078 rs1413178554 |
286 | C>R | No |
ClinGen TOPMed |
|
|
CA393177083 rs1274593112 |
286 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1159367765 CA393177124 |
288 | A>T | No |
ClinGen TOPMed |
|
|
rs775111649 COSM1608683 CA7662590 |
288 | A>V | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA393177186 COSM124489 rs1469654026 |
290 | S>L | upper_aerodigestive_tract Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1312289762 CA393177193 |
291 | D>H | No |
ClinGen gnomAD |
|
|
rs1312289762 CA393177195 |
291 | D>N | No |
ClinGen gnomAD |
|
|
rs374817183 CA7662592 |
295 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA393177335 rs1220130042 |
297 | G>V | No |
ClinGen gnomAD |
|
|
CA7662593 rs773981017 |
298 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7662594 rs761837484 |
299 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs750574993 CA7662596 |
300 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs767336792 CA7662595 |
300 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA393177439 rs1241106775 |
303 | I>M | No |
ClinGen gnomAD |
|
|
rs754124034 CA7662599 |
304 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs377604605 CA272826056 |
305 | V>L | No |
ClinGen ESP TOPMed |
|
|
rs377604605 CA272826041 |
305 | V>M | No |
ClinGen ESP TOPMed |
|
|
rs1192642291 CA393177487 |
306 | P>L | No |
ClinGen gnomAD |
|
|
CA7662601 rs142113673 |
307 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142113673 CA7662600 |
307 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1433931750 CA393177534 |
309 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA393177606 rs1356646703 |
312 | L>F | No |
ClinGen TOPMed |
|
|
rs1000757267 CA272826071 |
313 | S>T | No |
ClinGen TOPMed |
|
|
rs748410219 CA7662603 |
314 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs370568381 CA7662604 |
315 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1437466115 CA393177724 |
317 | S>T | No |
ClinGen gnomAD |
|
|
rs1475049428 CA393177877 |
325 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1369226974 CA393177873 |
325 | L>V | No |
ClinGen gnomAD |
|
|
CA393177889 rs1475612450 |
326 | P>S | No |
ClinGen TOPMed |
|
|
CA7662607 rs769308248 |
327 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs563261773 CA7662608 |
328 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA7662609 rs768148327 |
330 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA393177985 rs1223295146 |
331 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA393178115 rs1453540656 |
335 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 337 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774253901 CA7662611 |
338 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774253901 CA7662612 |
338 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs575144583 CA7662615 |
339 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1567269332 CA393178203 |
339 | D>V | No |
ClinGen Ensembl |
|
|
rs1227125832 CA393178227 |
340 | P>H | No |
ClinGen TOPMed |
|
|
CA7662616 rs760628024 |
340 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs765310894 | 341 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766568229 CA393178255 |
342 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs766568229 CA7662617 |
342 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs753928739 CA7662618 |
345 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393245343 CA393178338 |
346 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1440560558 CA393178422 |
350 | T>S | No |
ClinGen gnomAD |
|
|
rs1237538373 CA393178436 |
351 | E>K | No |
ClinGen gnomAD |
|
|
COSM964938 CA393178644 rs887001981 |
352 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs887001981 CA272826514 |
352 | V>L | No |
ClinGen gnomAD |
|
|
rs763169640 CA7662644 |
355 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763169640 CA393178764 |
355 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764476271 CA272826522 |
356 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7662645 rs764476271 |
356 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA393178934 rs1399841759 |
360 | K>R | No |
ClinGen TOPMed |
|
|
CA7662646 rs751874530 |
361 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA393178963 rs1258669087 |
362 | L>S | No |
ClinGen gnomAD |
|
|
CA7662647 rs757813144 |
367 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 370 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393179117 rs1398311778 |
372 | M>K | No |
ClinGen gnomAD |
|
|
CA7662648 COSM1374579 rs781643554 |
373 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA7662650 rs148707185 |
375 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA393179192 rs1324340168 |
376 | T>A | No |
ClinGen gnomAD |
|
|
rs1324340168 CA393179194 |
376 | T>S | No |
ClinGen gnomAD |
|
|
rs747755732 CA7662652 |
377 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1346961642 CA393179242 |
378 | I>M | No |
ClinGen gnomAD |
|
|
CA7662653 rs374702385 |
379 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7662655 rs145481549 |
381 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7662656 rs776426975 |
382 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs759461010 CA7662657 |
384 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1401373560 CA393179398 |
387 | P>S | No |
ClinGen Ensembl |
|
|
CA7662659 rs775601021 |
388 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA393179436 rs1595824816 |
389 | P>L | No |
ClinGen Ensembl |
|
|
CA393179471 rs1375419552 |
391 | Q>H | No |
ClinGen gnomAD |
|
|
rs764282170 CA7662661 |
391 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA272826620 rs201815588 |
393 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1381312233 CA393179515 |
394 | G>D | No |
ClinGen gnomAD |
|
|
CA393179519 rs1381312233 |
394 | G>V | No |
ClinGen gnomAD |
|
|
rs968235395 CA272826635 |
395 | V>M | No |
ClinGen gnomAD |
|
|
CA393179588 rs369326210 |
398 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
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CA7662667 rs201263032 |
401 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
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CA393179644 rs1381474522 |
402 | E>K | No |
ClinGen TOPMed gnomAD |
|
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CA272826657 rs916251037 |
403 | S>C | No |
ClinGen TOPMed gnomAD |
|
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rs949249403 CA272826666 |
406 | L>Q | No |
ClinGen TOPMed |
|
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rs1318127045 CA393179738 |
407 | K>R | No |
ClinGen TOPMed |
|
|
rs1394939460 CA393179785 |
409 | T>I | No |
ClinGen gnomAD |
|
|
CA7662672 rs757104332 |
413 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393179915 rs1172970106 |
416 | I>L | No |
ClinGen TOPMed |
|
|
CA7662674 rs745824777 |
418 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1438367897 CA393179970 |
419 | A>T | No |
ClinGen gnomAD |
|
|
rs1324976385 CA393179978 |
419 | A>V | No |
ClinGen gnomAD |
|
|
rs776052964 CA272826685 |
420 | C>Y | No |
ClinGen gnomAD |
1 associated diseases with P34949
[MIM: 602579]: Congenital disorder of glycosylation 1B (CDG1B)
A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1B is clinically characterized by protein-losing enteropathy. {ECO:0000269|PubMed:10980531, ECO:0000269|PubMed:11134235, ECO:0000269|PubMed:11350186, ECO:0000269|PubMed:12357336, ECO:0000269|PubMed:12414827, ECO:0000269|PubMed:9525984, ECO:0000269|PubMed:9585601}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1B is clinically characterized by protein-losing enteropathy. {ECO:0000269|PubMed:10980531, ECO:0000269|PubMed:11134235, ECO:0000269|PubMed:11350186, ECO:0000269|PubMed:12357336, ECO:0000269|PubMed:12414827, ECO:0000269|PubMed:9525984, ECO:0000269|PubMed:9585601}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for P34949
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Phosphomannose isomerase, type I, conserved site | 129 - 137 | IPR018050-1 |
| conserved_site | Phosphomannose isomerase, type I, conserved site | 276 - 301 | IPR018050-2 |
| domain | Phosphomannose isomerase type I, C-terminal domain | 337 - 381 | IPR046456 |
| domain | Phosphomannose isomerase type I, catalytic domain | 6 - 154 | IPR046457 |
| domain | Phosphomannose isomerase type I, helical insertion domain | 170 - 257 | IPR046458 |
Functions
| Description | ||
|---|---|---|
| EC Number | 5.3.1.8 | Interconverting aldoses and ketoses |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| mannose-6-phosphate isomerase activity | Catalysis of the reaction: D-mannose 6-phosphate = D-fructose 6-phosphate. |
| zinc ion binding | Binding to a zinc ion (Zn). |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| GDP-mannose biosynthetic process | The chemical reactions and pathways resulting in the formation of GDP-mannose, a substance composed of mannose in glycosidic linkage with guanosine diphosphate. |
| mannose to fructose-6-phosphate metabolic process | The chemical reactions and pathways in which mannose, the aldohexose manno-hexose, is converted to fructose-6-phosphate. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P29952 | PMI40 | Mannose-6-phosphate isomerase | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q3SZI0 | MPI | Mannose-6-phosphate isomerase | Bos taurus (Bovine) | PR |
| A5A6K3 | MPI | Mannose-6-phosphate isomerase | Pan troglodytes (Chimpanzee) | PR |
| Q9M884 | PMI1 | Mannose-6-phosphate isomerase 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAPRVFPLS | CAVQQYAWGK | MGSNSEVARL | LASSDPLAQI | AEDKPYAELW | MGTHPRGDAK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ILDNRISQKT | LSQWIAENQD | SLGSKVKDTF | NGNLPFLFKV | LSVETPLSIQ | AHPNKELAEK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LHLQAPQHYP | DANHKPEMAI | ALTPFQGLCG | FRPVEEIVTF | LKKVPEFQFL | IGDEAATHLK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QTMSHDSQAV | ASSLQSCFSH | LMKSEKKVVV | EQLNLLVKRI | SQQAAAGNNM | EDIFGELLLQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LHQQYPGDIG | CFAIYFLNLL | TLKPGEAMFL | EANVPHAYLK | GDCVECMACS | DNTVRAGLTP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KFIDVPTLCE | MLSYTPSSSK | DRLFLPTRSQ | EDPYLSIYDP | PVPDFTIMKT | EVPGSVTEYK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VLALDSASIL | LMVQGTVIAS | TPTTQTPIPL | QRGGVLFIGA | NESVSLKLTE | PKDLLIFRAC |
| CLL |