O43395
PR
Gene name |
PRPF3 (HPRP3) |
Protein name |
U4/U6 small nuclear ribonucleoprotein Prp3 |
Names |
Pre-mRNA-splicing factor 3, hPrp3, U4/U6 snRNP 90 kDa protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9129 |
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
13 structures for O43395
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1X4Q | NMR | - | A | 1-79 | PDB |
| 3JCR | EM | 700 A | K | 1-683 | PDB |
| 5O9Z | EM | 450 A | E | 1-683 | PDB |
| 6AH0 | EM | 570 A | J | 1-683 | PDB |
| 6AHD | EM | 380 A | J | 1-683 | PDB |
| 6QW6 | EM | 292 A | 4A | 1-683 | PDB |
| 6QX9 | EM | 328 A | 4A | 1-683 | PDB |
| 7N2N | X-ray | 260 A | C | 368-376 | PDB |
| 7N2R | X-ray | 228 A | C | 368-376 | PDB |
| 7N2S | X-ray | 237 A | C | 368-376 | PDB |
| 8Q7N | EM | 310 A | J | 1-683 | PDB |
| 8QO9 | EM | 529 A | J | 1-683 | PDB |
| AF-O43395-F1 | Predicted | AlphaFoldDB |
333 variants for O43395
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs199638866 CA1075398 RCV002551495 RCV001041460 |
83 | S>G | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001196379 rs1656552502 |
167 | T>I | Retinitis pigmentosa 18 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001407194 CA1075519 RCV001100610 rs782792715 |
326 | T>A | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001074188 rs1656838476 |
341 | R>Q | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001074939 rs1657267180 |
384 | I>T | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001002720 rs1572263404 CA342279287 |
429 | D>Y | Retinitis pigmentosa 18 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001100885 rs1657976600 |
430 | N>D | Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1160984185 RCV001073503 CA342279492 |
435 | T>S | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA1075612 RCV001856368 RCV001100886 rs373571735 |
445 | Q>R | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002554745 rs1657981991 RCV001075175 |
449 | R>G | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001100887 rs1657984645 |
464 | V>I | Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
rs142253030 RCV001318173 RCV001724294 CA342282095 |
488 | E>D | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000003518 CA252738 rs121434243 |
489 | A>D | Retinitis pigmentosa 18 Retinitis pigmentosa 18 (rp18) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs121434242 RCV001565464 VAR_046735 CA252737 RCV000003517 |
493 | P>S | Retinitis pigmentosa 18 Retinitis pigmentosa 18 (rp18) RP18 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_016877 RCV001074785 CA252736 RCV000003516 rs121434241 RCV000726757 RCV001003129 |
494 | T>M | Retinitis pigmentosa Retinal dystrophy Retinitis pigmentosa 18 Retinitis pigmentosa 18 (rp18) RP18; reduces phosphorylation; impairs binding to PRPF4; impairs self-association; affects interaction with the U4/U5/U6 tri-snRNP complex; does not affect global pre-mRNA splicing [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001199729 rs1658062720 |
499 | H>P | Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001261958 rs1658063448 |
502 | A>P | Retinitis pigmentosa 18 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1658082808 RCV001074516 |
511 | H>P | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1658084978 RCV001075016 |
522 | A>missing | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1658242037 RCV002554705 RCV001074218 |
550 | N>S | Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001097138 rs587704985 CA1075722 RCV002069637 |
616 | D>V | Retinitis pigmentosa [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001339778 rs201590000 RCV001075123 CA30031929 |
641 | R>Q | Variant assessed as Somatic; impact. Retinal dystrophy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV001097140 rs1659093313 |
672 | L>F | Retinitis pigmentosa [ClinVar] | Yes |
ClinVar dbSNP |
|
CA342284502 rs1553863299 |
3 | L>P | No |
ClinGen gnomAD |
|
|
rs12736964 CA30043221 VAR_051286 |
12 | K>N | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA342284788 rs1553863301 |
12 | K>R | No |
ClinGen gnomAD |
|
|
rs782309273 CA1075355 |
14 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1395340408 CA342284820 |
15 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1075357 rs782279188 |
18 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA342285110 rs1553863333 |
26 | S>L | No |
ClinGen gnomAD |
|
|
rs782530386 CA30043249 |
27 | E>D | No |
ClinGen Ensembl |
|
|
rs919041007 CA30043253 |
29 | T>A | No |
ClinGen Ensembl |
|
|
rs1338428460 CA342285206 COSM1667908 |
29 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1387446413 CA342285408 |
38 | V>M | No |
ClinGen TOPMed |
|
|
CA1075363 rs375882146 RCV001040829 |
43 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
rs781967322 CA1075362 |
43 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA342285633 rs1553863354 |
45 | K>R | No |
ClinGen gnomAD |
|
|
CA342285680 rs1553863355 |
47 | A>P | No |
ClinGen gnomAD |
|
|
rs1553863360 CA342285700 |
47 | A>V | No |
ClinGen gnomAD |
|
| rs370220628 | 48 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA30043262 rs984906067 |
48 | A>T | No |
ClinGen Ensembl |
|
|
rs370485780 CA1075364 |
48 | A>V | No |
ClinGen ESP ExAC |
|
|
CA342286012 rs1553863583 |
49 | D>G | No |
ClinGen gnomAD |
|
|
rs910066987 CA30043266 |
49 | D>N | No |
ClinGen Ensembl |
|
|
CA342286204 rs1445442631 |
57 | D>N | No |
ClinGen TOPMed |
|
|
CA342286245 rs1553863590 |
59 | T>A | No |
ClinGen gnomAD |
|
|
CA1075391 rs782061609 |
61 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 69 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342286609 rs1485758845 |
73 | G>V | No |
ClinGen TOPMed |
|
|
rs781900643 CA1075393 |
76 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA1075394 rs782500686 |
77 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA1075395 rs782777084 |
77 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA342286708 rs1243141004 |
78 | H>R | No |
ClinGen TOPMed |
|
|
CA1075396 rs781821734 |
79 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1553863610 CA342286774 |
81 | S>C | No |
ClinGen TOPMed |
|
|
CA1075397 rs782480683 |
81 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342286866 rs1244665465 |
83 | S>N | No |
ClinGen TOPMed |
|
|
CA1075399 RCV001298546 rs782194993 |
89 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs981149613 CA342287064 |
91 | L>V | No |
ClinGen gnomAD |
|
|
rs781791885 CA1075415 |
99 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA1075416 rs148554092 |
100 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs587683732 CA30044458 |
101 | I>L | No |
ClinGen 1000Genomes |
|
|
CA342288288 rs1553864387 |
101 | I>M | No |
ClinGen gnomAD |
|
|
rs1437542861 CA342288302 |
103 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA342288380 rs1397128003 |
105 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1553864392 CA342288487 |
110 | K>R | No |
ClinGen gnomAD |
|
|
CA1075417 rs782790721 |
111 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 112 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201882091 CA1075418 |
115 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1075419 rs782508157 |
115 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA30044483 rs922343734 |
120 | E>G | No |
ClinGen Ensembl |
|
|
rs782658343 CA1075420 |
121 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs375561497 CA30044499 |
122 | E>A | No |
ClinGen ESP TOPMed |
|
|
rs782221917 CA1075421 |
123 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs201141338 CA30044540 |
136 | M>V | No |
ClinGen 1000Genomes |
|
| TCGA novel | 142 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 150 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1075437 rs782755257 |
151 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 153 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1075439 rs782530377 |
159 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 159 | Q>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1282813411 CA342290935 |
163 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1384189248 CA342290960 |
164 | S>G | No |
ClinGen TOPMed |
|
|
rs781850532 CA1075441 |
164 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs946589644 CA30046930 |
164 | S>T | No |
ClinGen Ensembl |
|
|
rs782509534 CA1075442 |
165 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342290989 rs1454108864 |
166 | P>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 166 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1075444 rs782231541 |
167 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1553865981 CA342291110 |
169 | Q>H | No |
ClinGen gnomAD |
|
|
CA342291429 rs1271540038 |
173 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
RCV001226005 rs1656586815 |
174 | S>P | No |
ClinVar dbSNP |
|
|
rs1307444057 CA342291513 |
176 | S>C | No |
ClinGen TOPMed |
|
|
CA1075463 rs781811442 |
177 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
RCV001341725 CA1075465 rs375363471 |
180 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1002893595 CA342291678 |
181 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1002893595 CA30047141 |
181 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1075466 rs377650420 |
183 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342291753 rs1553866131 |
184 | G>D | No |
ClinGen gnomAD |
|
|
CA342291940 rs1572217284 |
190 | S>P | No |
ClinGen Ensembl |
|
|
rs1572217313 CA342291979 |
192 | A>P | No |
ClinGen Ensembl |
|
|
CA30047194 rs371113802 |
195 | F>L | No |
ClinGen ESP TOPMed |
|
|
rs1439847269 CA342292190 |
197 | N>S | No |
ClinGen TOPMed |
|
|
rs782390782 RCV001351749 |
201 | E>K | No |
ClinVar dbSNP |
|
|
rs782390782 CA1075467 |
201 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM895493 rs782318341 CA1075470 |
212 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1553866152 CA342292738 |
216 | Q>H | No |
ClinGen gnomAD |
|
|
rs1553866157 CA342292742 |
217 | L>M | No |
ClinGen gnomAD |
|
|
CA342292792 rs1175928226 |
220 | K>R | No |
ClinGen TOPMed |
|
|
CA342292850 rs1553866173 |
222 | G>V | No |
ClinGen gnomAD |
|
|
CA1075472 rs782290768 |
223 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1553866182 CA342292871 |
224 | I>F | No |
ClinGen gnomAD |
|
|
rs112791874 CA30047224 |
225 | G>D | No |
ClinGen Ensembl |
|
|
CA30047223 rs961027754 |
225 | G>S | No |
ClinGen Ensembl |
|
|
CA342292995 rs1553866195 |
226 | N>K | No |
ClinGen gnomAD |
|
|
rs370145502 RCV001320167 CA1075474 |
226 | N>S | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs782078824 CA1075475 |
227 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA342293181 rs1553866211 |
236 | H>Y | No |
ClinGen gnomAD |
|
|
CA342293196 rs1553866218 |
237 | A>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA342293203 rs1480542166 |
238 | M>V | No |
ClinGen TOPMed |
|
|
CA342293226 rs1560095949 |
239 | G>D | No |
ClinGen Ensembl |
|
|
rs782062577 CA1075478 |
243 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 243 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342293313 rs782062577 |
243 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1656810771 RCV001226933 |
245 | V>M | No |
ClinVar dbSNP |
|
|
rs1553866823 CA342293735 |
249 | D>Y | No |
ClinGen gnomAD |
|
|
CA1075494 rs782324840 |
251 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782162985 CA1075496 |
253 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 254 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs80201355 RCV001318280 CA342293904 |
260 | E>D | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM1333786 CA342293943 rs1553866840 |
263 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1553866848 CA342293968 |
265 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 267 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 269 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1420234395 CA342294037 |
271 | E>K | No |
ClinGen TOPMed |
|
|
rs1553866860 CA342294054 |
272 | I>V | No |
ClinGen gnomAD |
|
|
rs782455177 CA1075502 |
276 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA342294114 rs1553866876 COSM125605 |
277 | R>C | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1075504 COSM895494 rs781846855 RCV001320184 |
277 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA1075506 rs782599446 |
286 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1075508 rs587605872 |
291 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA342294307 rs1472546290 |
292 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs782416755 CA1075511 |
299 | E>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 301 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201753797 CA30048223 |
303 | E>G | No |
ClinGen 1000Genomes |
|
|
rs1445600715 CA342294446 |
304 | D>N | No |
ClinGen TOPMed |
|
|
rs1262930221 CA342294468 |
305 | M>I | No |
ClinGen TOPMed |
|
|
rs782644120 RCV001069641 |
309 | T>I | No |
ClinVar dbSNP |
|
|
RCV001321727 rs782644120 |
309 | T>N | No |
ClinVar dbSNP |
|
|
CA1075512 rs782644120 |
309 | T>S | No |
ClinGen ExAC gnomAD |
|
| rs34541287 | 311 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342294572 rs1553866953 |
313 | P>L | No |
ClinGen gnomAD |
|
|
RCV001302858 CA342294571 rs1489549828 |
313 | P>S | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1489549828 CA342294567 |
313 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1226088345 CA342294582 |
314 | R>Q | No |
ClinGen TOPMed |
|
|
CA30048253 COSM1333787 rs375374507 |
316 | S>F | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed |
|
CA342294610 rs1246574143 |
317 | I>L | No |
ClinGen TOPMed |
|
|
CA342294618 rs1324401622 |
317 | I>T | No |
ClinGen TOPMed |
|
|
rs140161377 CA1075514 |
318 | A>T | No |
ClinGen ESP ExAC |
|
|
CA1075515 rs781915422 |
318 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA342294638 rs1277341443 |
319 | P>S | No |
ClinGen TOPMed |
|
|
CA342294659 rs1553866975 |
320 | S>F | No |
ClinGen gnomAD |
|
|
CA342294671 rs1553866978 |
321 | Q>H | No |
ClinGen TOPMed |
|
|
rs782338130 CA1075516 |
322 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 324 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 324 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781809037 CA1075520 |
330 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1404792619 CA342294814 |
331 | D>N | No |
ClinGen TOPMed |
|
|
rs1391588288 CA342294872 |
334 | K>T | No |
ClinGen TOPMed |
|
|
rs111505888 CA30048277 |
338 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA342294951 rs1165154683 |
338 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 339 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342295052 rs1553867015 |
343 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1052290008 CA30050099 |
349 | E>K | No |
ClinGen gnomAD |
|
|
rs782025052 CA1075533 |
350 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs199977638 CA30050100 |
352 | Q>* | No |
ClinGen 1000Genomes |
|
| TCGA novel | 354 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA30050101 rs782219326 |
360 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1075535 rs782314899 |
365 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs782087854 CA1075537 |
371 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA342296771 rs1340846346 |
373 | I>V | No |
ClinGen TOPMed |
|
|
rs782781914 CA1075538 |
374 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA342296829 RCV001340761 rs1274839626 |
376 | K>N | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA342296821 rs1553868802 |
376 | K>T | No |
ClinGen gnomAD |
|
|
rs202233623 CA30050112 |
377 | K>R | No |
ClinGen 1000Genomes |
|
|
rs1043744478 CA30050115 |
378 | E>K | No |
ClinGen TOPMed |
|
|
CA342297030 rs1387187824 |
383 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs782784727 CA1075541 |
387 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 389 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1688492 rs1553868820 CA342297408 |
396 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs782428898 CA1075543 |
397 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1075544 rs782756746 |
399 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs142080861 RCV001035634 CA1075569 |
402 | T>A | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs373344914 CA1075570 |
402 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373344914 CA1075571 |
402 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 403 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373628199 CA1075572 |
405 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA30024417 rs925305436 |
406 | P>L | No |
ClinGen Ensembl |
|
|
CA30024416 COSM228804 rs978350140 |
406 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 409 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342278224 rs1286568507 |
410 | D>H | No |
ClinGen TOPMed |
|
|
CA1075574 rs141281367 |
417 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs936682081 CA30024436 |
418 | V>I | No |
ClinGen Ensembl |
|
|
RCV001352482 rs1452433223 CA342278542 |
420 | H>Y | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs782685361 CA1075575 |
421 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA1075576 rs782280585 |
425 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1075577 rs782325731 |
426 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA342278750 rs1553870040 |
426 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 427 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782511773 CA1075600 |
429 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA342279324 rs1386410237 |
430 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1075607 rs782252920 |
431 | D>A | No |
ClinGen ExAC |
|
|
CA1075605 rs782599385 |
431 | D>H | No |
ClinGen ExAC |
|
|
CA1075606 rs782252920 |
431 | D>V | No |
ClinGen ExAC |
|
|
rs185825888 CA1075608 |
435 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA342279493 rs1160984185 |
435 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA30026245 rs782654850 |
438 | V>A | No |
ClinGen Ensembl |
|
|
CA30026273 rs907184088 |
443 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA342279706 rs1241365962 |
446 | K>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 447 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1560112553 CA342279724 RCV000761679 |
447 | K>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA30026310 rs1053201955 |
449 | R>Q | No |
ClinGen Ensembl |
|
|
rs1011420189 CA30026315 |
452 | T>A | No |
ClinGen Ensembl |
|
|
rs1448662676 CA342279848 |
454 | R>W | No |
ClinGen TOPMed |
|
|
CA342279979 rs1553871996 |
458 | K>N | No |
ClinGen gnomAD |
|
|
CA30026317 rs1028128219 |
460 | L>V | No |
ClinGen TOPMed |
|
|
rs889722313 CA30026326 |
461 | Q>L | No |
ClinGen Ensembl |
|
|
CA1075614 rs781991486 |
467 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA1075616 rs587594838 |
469 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782162492 CA1075615 |
469 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs781806543 CA1075617 |
470 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342280198 rs1553871998 |
470 | P>S | No |
ClinGen gnomAD |
|
|
CA1075618 rs370338932 |
471 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs782745194 CA1075619 |
472 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10604599 RCV000324063 rs886044817 |
476 | V>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs782306871 CA1075633 |
483 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs781967161 CA1075634 |
483 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 484 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782077870 CA1075635 |
486 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781978134 CA1075637 |
490 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1036241109 CA30026915 |
495 | K>R | No |
ClinGen Ensembl |
|
|
rs185344140 CA1075642 |
496 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV001202025 rs1658062522 |
497 | E>K | No |
ClinVar dbSNP |
|
| TCGA novel | 503 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1075644 rs782506835 |
504 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1075645 rs782686315 |
505 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs201319548 CA30026966 |
506 | K>E | No |
ClinGen 1000Genomes |
|
|
CA342282646 rs1553872245 |
507 | R>G | No |
ClinGen gnomAD |
|
|
CA1075646 rs782281318 |
508 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342282900 rs781905935 |
510 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1075661 rs781905935 |
510 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA342283015 rs1414521808 |
514 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 516 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342283140 rs781790530 |
518 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1075664 rs781790530 |
518 | R>Q | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1382055873 CA342283433 |
532 | K>N | No |
ClinGen TOPMed |
|
|
rs888151898 CA30027090 |
537 | I>S | No |
ClinGen Ensembl |
|
|
CA342283610 rs1553872384 |
541 | V>A | No |
ClinGen gnomAD |
|
|
CA342283603 rs1157514116 |
541 | V>I | No |
ClinGen TOPMed |
|
|
rs782256620 CA1075667 |
543 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342283653 rs1413680618 |
544 | S>F | No |
ClinGen TOPMed |
|
|
CA342283715 rs1553872855 |
548 | V>I | No |
ClinGen gnomAD |
|
|
rs1448830296 CA342283723 |
549 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA342283738 rs1553872861 |
551 | L>W | No |
ClinGen gnomAD |
|
|
rs782406269 CA1075678 |
552 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs782053928 CA1075681 |
553 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1075679 rs781938879 |
553 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA342283751 rs781938879 |
553 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA30027905 rs781994066 |
555 | A>P | No |
ClinGen Ensembl |
|
|
rs1318706811 CA342283770 |
556 | K>R | No |
ClinGen TOPMed |
|
|
CA30027911 rs1009938440 |
559 | K>N | No |
ClinGen Ensembl |
|
|
rs1553872870 CA342284044 |
560 | I>M | No |
ClinGen gnomAD |
|
|
CA342284070 rs1456942541 |
563 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA342284069 rs1456942541 |
563 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1553872873 CA342284082 |
564 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA342284136 rs1553872875 |
567 | L>V | No |
ClinGen gnomAD |
|
|
rs1422473572 CA342284254 |
573 | V>L | No |
ClinGen TOPMed |
|
|
rs782775253 CA1075684 |
578 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1553872883 CA342284622 |
583 | V>A | No |
ClinGen gnomAD |
|
|
CA342284668 rs1553872885 |
584 | V>A | No |
ClinGen gnomAD |
|
|
CA342284651 rs1183016664 |
584 | V>L | No |
ClinGen TOPMed |
|
|
rs1553872952 CA342284906 |
587 | G>D | No |
ClinGen TOPMed |
|
|
rs1553872958 CA342284917 |
588 | P>S | No |
ClinGen gnomAD |
|
|
rs926630158 CA30028092 |
592 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 594 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1075699 rs782387249 |
595 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA1075700 rs781985482 |
596 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782155481 CA1075701 |
596 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168588697 CA342285304 |
599 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
RCV001051279 rs1658279276 |
600 | H>R | No |
ClinVar dbSNP |
|
|
rs1553872966 CA342285308 |
600 | H>Y | No |
ClinGen gnomAD |
|
|
CA342285350 rs1553872968 |
601 | R>Q | No |
ClinGen gnomAD |
|
|
rs1553872975 CA342285524 |
605 | D>A | No |
ClinGen gnomAD |
|
|
rs1553872976 CA342285632 |
607 | Q>H | No |
ClinGen gnomAD |
|
|
rs1390257225 CA342285636 |
608 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1390257225 CA342285637 |
608 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1075704 rs782039602 |
609 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA342285723 rs1553872980 |
610 | N>D | No |
ClinGen gnomAD |
|
|
CA342285817 rs1172032962 |
611 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1075723 rs587704985 |
616 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA342287963 rs782390597 |
617 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 618 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1401329625 CA342288017 |
620 | D>G | No |
ClinGen TOPMed |
|
|
rs782301389 CA1075726 |
621 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1075728 rs782134846 |
624 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342288237 rs1553873791 |
627 | T>S | No |
ClinGen gnomAD |
|
|
rs1343542394 CA342288303 |
628 | N>K | No |
ClinGen TOPMed |
|
|
rs782767887 CA1075729 COSM146599 |
628 | N>S | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs782042725 CA1075730 |
631 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1075732 rs141881079 |
633 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781935872 CA342290296 |
642 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA1075750 rs781935872 |
642 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA342290409 rs1277916822 |
645 | E>D | No |
ClinGen TOPMed |
|
|
CA342290392 rs1553874707 |
645 | E>G | No |
ClinGen gnomAD |
|
|
rs1553874714 CA342290437 |
646 | M>I | No |
ClinGen gnomAD |
|
|
CA342290506 rs1553874717 |
649 | K>Q | No |
ClinGen gnomAD |
|
|
rs1553874719 CA342290537 |
650 | Q>E | No |
ClinGen gnomAD |
|
|
rs782751145 CA1075752 |
650 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs781952905 CA1075753 |
655 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA342290778 rs1553874725 |
656 | M>K | No |
ClinGen gnomAD |
|
|
rs201869049 CA30031981 |
657 | A>T | No |
ClinGen 1000Genomes |
|
|
rs782127242 CA1075754 |
658 | R>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 659 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1075755 rs782229642 |
662 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1572300989 CA342291018 |
666 | A>G | No |
ClinGen Ensembl |
|
|
rs1553874750 CA342291073 |
668 | H>R | No |
ClinGen Ensembl |
|
|
CA1075757 rs782447888 |
668 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781784335 CA1075759 |
672 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA1075760 rs782484212 |
673 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1560126950 CA342291361 |
675 | S>N | No |
ClinGen Ensembl |
|
|
CA1075763 rs782568395 |
676 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA342291585 rs1553874770 |
680 | E>G | No |
ClinGen gnomAD |
|
|
rs1553874768 CA342291552 |
680 | E>K | No |
ClinGen gnomAD |
1 associated diseases with O43395
[MIM: 601414]: Retinitis pigmentosa 18 (RP18)
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:11773002, ECO:0000269|PubMed:12714658, ECO:0000269|PubMed:17932117}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:11773002, ECO:0000269|PubMed:12714658, ECO:0000269|PubMed:17932117}. Note=The disease is caused by variants affecting the gene represented in this entry.
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| Cajal body | A class of nuclear body, first seen after silver staining by Ramon y Cajal in 1903, enriched in small nuclear ribonucleoproteins, and certain general RNA polymerase II transcription factors; ultrastructurally, they appear as a tangle of coiled, electron-dense threads roughly 0.5 micrometers in diameter; involved in aspects of snRNP biogenesis; the protein coilin serves as a marker for Cajal bodies. Some argue that Cajal bodies are the sites for preassembly of transcriptosomes, unitary particles involved in transcription and processing of RNA. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| spliceosomal complex | Any of a series of ribonucleoprotein complexes that contain snRNA(s) and small nuclear ribonucleoproteins (snRNPs), and are formed sequentially during the spliceosomal splicing of one or more substrate RNAs, and which also contain the RNA substrate(s) from the initial target RNAs of splicing, the splicing intermediate RNA(s), to the final RNA products. During cis-splicing, the initial target RNA is a single, contiguous RNA transcript, whether mRNA, snoRNA, etc., and the released products are a spliced RNA and an excised intron, generally as a lariat structure. During trans-splicing, there are two initial substrate RNAs, the spliced leader RNA and a pre-mRNA. |
| U2-type precatalytic spliceosome | A spliceosomal complex that is formed by the recruitment of the preassembled U4/U6.U5 tri-snRNP to the prespliceosome. Although all 5 snRNPs are present, the precatalytic spliceosome is catalytically inactive. The precatalytic spliceosome includes many proteins in addition to those found in the U1, U2 and U4/U6.U5 snRNPs. |
| U4/U6 x U5 tri-snRNP complex | A ribonucleoprotein complex that is formed by the association of the U4/U6 and U5 snRNPs. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| mRNA processing | Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide. |
| mRNA splicing, via spliceosome | The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced. |
| RNA splicing | The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA. |
| RNA splicing, via transesterification reactions | Splicing of RNA via a series of two transesterification reactions. |
| spliceosomal tri-snRNP complex assembly | The formation of a tri-snRNP complex containing U4 and U6 (or U4atac and U6atac) snRNAs and U5 snRNAs and associated proteins. This includes reannealing of U4 and U6 (or U4atac and U6atac) snRNAs released from previous rounds of splicing to reform the U4/U6 snRNP (or U4atac/U6atac snRNP) as well as the subsequent association of the U5 snRNP with the U4/U6 snRNP (or U4atac/U6atac snRNP) to form a tri-snRNP that is ready to reassemble into another spliceosome complex. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q03338 | PRP3 | U4/U6 small nuclear ribonucleoprotein PRP3 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q2KIA6 | PRPF3 | U4/U6 small nuclear ribonucleoprotein Prp3 | Bos taurus (Bovine) | PR |
| Q5ZJ85 | PRPF3 | U4/U6 small nuclear ribonucleoprotein Prp3 | Gallus gallus (Chicken) | PR |
| Q922U1 | Prpf3 | U4/U6 small nuclear ribonucleoprotein Prp3 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MALSKRELDE | LKPWIEKTVK | RVLGFSEPTV | VTAALNCVGK | GMDKKKAADH | LKPFLDDSTL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RFVDKLFEAV | EEGRSSRHSK | SSSDRSRKRE | LKEVFGDDSE | ISKESSGVKK | RRIPRFEEVE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EEPEVIPGPP | SESPGMLTKL | QIKQMMEAAT | RQIEERKKQL | SFISPPTPQP | KTPSSSQPER |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LPIGNTIQPS | QAATFMNDAI | EKARKAAELQ | ARIQAQLALK | PGLIGNANMV | GLANLHAMGI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| APPKVELKDQ | TKPTPLILDE | QGRTVDATGK | EIELTHRMPT | LKANIRAVKR | EQFKQQLKEK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PSEDMESNTF | FDPRVSIAPS | QRQRRTFKFH | DKGKFEKIAQ | RLRTKAQLEK | LQAEISQAAR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KTGIHTSTRL | ALIAPKKELK | EGDIPEIEWW | DSYIIPNGFD | LTEENPKRED | YFGITNLVEH |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PAQLNPPVDN | DTPVTLGVYL | TKKEQKKLRR | QTRREAQKEL | QEKVRLGLMP | PPEPKVRISN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LMRVLGTEAV | QDPTKVEAHV | RAQMAKRQKA | HEEANAARKL | TAEQRKVKKI | KKLKEDISQG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VHISVYRVRN | LSNPAKKFKI | EANAGQLYLT | GVVVLHKDVN | VVVVEGGPKA | QKKFKRLMLH |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RIKWDEQTSN | TKGDDDEESD | EEAVKKTNKC | VLVWEGTAKD | RSFGEMKFKQ | CPTENMAREH |
| 670 | 680 | ||||
| FKKHGAEHYW | DLALSESVLE | STD |