Q9UBP0
PR
Gene name |
SPAST |
Protein name |
Spastin |
Names |
Spastic paraplegia 4 protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6683 |
EC number |
5.6.1.1: Enzymes altering polypeptide conformation or assembly |
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
8 structures for Q9UBP0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3EAB | X-ray | 250 A | A/B/C/D/E/F | 112-196 | PDB |
| 3VFD | X-ray | 330 A | A | 228-616 | PDB |
| 5Z6Q | X-ray | 300 A | A | 229-616 | PDB |
| 5Z6R | X-ray | 300 A | A | 229-616 | PDB |
| 6PEK | EM | 420 A | A/B/C/D/E | 87-616 | PDB |
| 6PEN | EM | 420 A | A/B/C/D/E/F | 87-616 | PDB |
| 7S7J | X-ray | 115 A | A | 112-195 | PDB |
| AF-Q9UBP0-F1 | Predicted | AlphaFoldDB |
578 variants for Q9UBP0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1553394366 RCV000550986 |
4 | P>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000317684 CA10615118 rs372349942 |
19 | P>S | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs762209469 CA1600472 RCV000863622 |
22 | P>A | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000842632 rs558882317 CA1600473 RCV001521667 RCV001849131 |
23 | R>K | Hereditary spastic paraplegia Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001066648 rs1361493550 CA346601321 |
27 | P>L | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001238954 rs1676390484 |
28 | C>S | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001293029 RCV001291565 rs1676388641 |
29 | L>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000814318 CA1600478 rs781516235 |
30 | A>V | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1676391139 RCV001211769 |
32 | A>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001342255 rs771019519 CA1600484 |
34 | P>L | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1041662261 RCV001141199 CA346601380 |
38 | P>L | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000464226 rs1041662261 CA16610961 |
38 | P>R | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000461473 CA16610962 rs573642949 |
43 | E>* | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001141200 rs542793579 CA1600498 |
43 | E>D | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
VAR_010194 RCV000440604 RCV001847587 RCV000368675 RCV000197924 RCV001794433 CA117669 rs121908515 RCV000006025 |
44 | S>L | Hereditary spastic paraplegia Hereditary spastic paraplegia 4 Spastic paraplegia 4, modifier of acts as a disease modifier; patients carrying a mutated allele of spastin and L-44 on the other allele are affected by severe spastic paraplegia with an early age of onset; may decrease the activity of the alternative promoter which directs the synthesis of isoform 3 and isoform 4 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_075827 | 44 | S>del | SPG4 [UniProt] | Yes | UniProt |
|
rs121908517 RCV000845266 RCV001847588 RCV000006026 RCV000584902 VAR_027205 CA117671 |
45 | P>Q | Hereditary spastic paraplegia Hereditary spastic paraplegia 4 Spastic paraplegia 4, modifier of acts as a disease modifier; patients carrying a mutated allele of spastin and Q-45 on the other allele are affected by severe spastic paraplegia with an early age of onset [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs778952334 CA1600500 RCV001141201 |
46 | H>R | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA346601485 RCV001036951 rs1356486929 |
51 | Y>C | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA346601501 rs1553394497 RCV000644885 CA346601502 RCV000713469 |
52 | Y>* | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001143041 rs200029938 |
53 | F>L | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001237012 CA1600506 rs200029938 |
53 | F>V | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1553394509 RCV000644902 |
55 | Y>* | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558605758 RCV000688664 CA346601594 RCV001766473 |
60 | G>D | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558605777 CA891842788 RCV000706158 |
67 | V>IP | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1558605868 RCV000705513 CA346601824 |
78 | L>V | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs776114823 CA1600529 RCV001064054 |
84 | R>C | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA45201401 RCV000693603 rs750218565 CA1600535 |
94 | G>R | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1343258361 CA346602102 VAR_075828 |
95 | A>T | SPG4 [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
rs780016543 CA1600538 RCV001320575 |
95 | A>V | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1573028017 RCV001849127 RCV000824386 |
96 | A>missing | Hereditary spastic paraplegia Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000205409 rs372005558 RCV001722121 VAR_067628 CA349578 |
97 | P>T | Hereditary spastic paraplegia 4 SPG4; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs746263735 RCV001233082 RCV001291596 |
101 | S>* | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs746263735 RCV002567885 RCV001233634 CA1600545 |
101 | S>L | Hereditary spastic paraplegia 4 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000818185 CA1600554 rs776858496 |
107 | P>L | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000644894 rs1410418105 |
110 | G>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001243896 rs1553394603 RCV000627250 CA346602318 |
112 | E>* | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_075829 | 112 | E>del | SPG4 [UniProt] | Yes | UniProt |
|
rs1272546651 CA346602356 RCV001196040 |
115 | R>C | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000685607 rs1558606204 |
119 | F>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000460629 rs1060502230 |
131 | L>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_075830 | 135 | E>del | SPG4 [UniProt] | Yes | UniProt |
|
rs1060502229 RCV000477009 |
137 | E>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553399472 RCV000545502 |
141 | Q>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000537576 rs1485703744 |
141 | Q>* | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553399493 RCV000644900 |
148 | W>* | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000796148 rs1573068995 |
148 | W>* | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000006017 rs587777753 |
152 | G>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000517495 RCV000200095 rs863224514 |
155 | E>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000518068 RCV001848692 RCV000462611 rs141944844 RCV001723926 VAR_067563 |
162 | V>I | Hereditary spastic paraplegia Hereditary spastic paraplegia 4 SPG4; likely benign variant [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
RCV001038756 rs886039695 RCV000255494 |
170 | Q>* | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1573072864 RCV001003948 |
171 | C>* | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs746073001 RCV000644905 |
171 | C>R | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001051295 rs1677627829 |
174 | A>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001210310 rs775364035 |
176 | R>S | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002281036 rs1677628649 |
178 | Q>* | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001143043 rs377698691 |
185 | L>F | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001848957 rs1553400002 RCV000557631 |
188 | A>missing | Hereditary spastic paraplegia Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553400016 VAR_026758 |
195 | L>V | SPG4 [UniProt] | Yes |
UniProt dbSNP |
|
rs1553311831 VAR_067629 |
201 | V>D | SPG4; unknown pathological significance [UniProt] | Yes |
UniProt dbSNP |
|
RCV001143044 RCV002557045 rs537855621 |
209 | T>M | Hereditary spastic paraplegia 4 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000678674 rs143003434 |
211 | V>I | Hereditary spastic paraplegia 4 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs1678016729 RCV001306889 |
214 | D>E | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs774722817 RCV000283330 |
215 | S>N | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001760101 RCV001143045 rs762126088 |
227 | S>A | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1573118105 RCV000805780 |
233 | P>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs140094231 RCV001585943 RCV001047464 |
238 | P>T | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002473225 RCV001219068 rs1678753568 |
240 | T>FQKEKTP* | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000700157 rs1558323426 |
241 | H>* | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_075831 | 244 | N>del | SPG4 [UniProt] | Yes | UniProt |
|
RCV000516292 rs1553314896 RCV000535751 |
245 | S>* | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_075832 | 245 | S>del | SPG4 [UniProt] | Yes | UniProt |
|
RCV001849079 RCV000713472 rs1553314902 RCV002532955 |
249 | S>* | Hereditary spastic paraplegia Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001253534 rs1678756927 |
252 | V>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_075833 | 254 | K>del | SPG4 [UniProt] | Yes | UniProt |
|
RCV001391483 RCV001223403 rs1678761963 |
277 | G>V | Hereditary spastic paraplegia 4 Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000518464 RCV000764403 RCV002525084 rs369908571 RCV001848906 |
278 | V>M | Hereditary spastic paraplegia Hereditary spastic paraplegia 4 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1678762730 RCV001268506 RCV002541637 |
280 | Q>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000516709 RCV000821011 rs1553314948 |
280 | Q>* | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_067631 | 287 | T>del | SPG4 [UniProt] | Yes | UniProt |
|
rs1558323659 RCV001203163 RCV000713474 |
289 | H>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000644906 RCV001697760 rs74688377 |
289 | H>Y | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001815024 VAR_067632 RCV001138298 rs773193617 |
293 | P>L | Hereditary spastic paraplegia 4 SPG4 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
RCV000529065 rs1553315181 |
295 | T>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1678803263 RCV001229187 |
300 | K>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001066646 rs1678805683 |
308 | T>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1678805865 RCV001380192 RCV001288798 |
309 | R>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs863224515 RCV000195823 |
309 | R>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001060560 RCV002275218 VAR_075834 rs202152835 |
309 | R>H | Hereditary spastic paraplegia 4 Variant assessed as Somatic; 0.0 impact. SPG4 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinVar UniProt NCI-TCGA dbSNP |
|
RCV001213809 RCV001288799 rs1678806430 |
310 | K>* | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_067633 rs1553315215 |
314 | L>S | SPG4; unknown pathological significance [UniProt] | Yes |
UniProt dbSNP |
|
RCV001848907 RCV000518178 rs1553315223 |
321 | D>missing | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001234110 rs1678809494 |
325 | A>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1678810039 RCV001035572 |
326 | N>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001236443 rs1678809927 |
326 | N>* | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_079314 | 328 | I>K | SPG4; unknown pathological significance [UniProt] | Yes | UniProt |
| VAR_067634 | 328 | I>L | SPG4; unknown pathological significance [UniProt] | Yes | UniProt |
|
rs1553315231 RCV000644899 |
329 | M>I | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001138299 rs762108936 |
334 | D>E | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553315321 RCV000547623 |
339 | V>* | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000006022 rs121908513 VAR_019448 |
344 | I>K | Hereditary spastic paraplegia 4 SPG4; abrogates ATPase activity and promotes microtubule binding [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs1573121594 RCV000986613 |
346 | G>V | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000626921 RCV001391497 VAR_027206 rs1553315329 RCV001090858 |
347 | Q>K | Hereditary spastic paraplegia 4 SPG4; promotes microtubule binding [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
RCV001268906 RCV001060706 rs1678825469 |
347 | Q>P | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000688114 rs1553315333 |
350 | A>T | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060502231 RCV000467451 RCV000516430 |
350 | A>V | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553315345 RCV001043692 |
356 | E>G | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000416011 RCV001391499 VAR_067564 rs1057519181 |
356 | E>K | Hereditary spastic paraplegia 4 SPG4; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
VAR_067635 rs1553315347 |
360 | L>V | SPG4; unknown pathological significance [UniProt] | Yes |
UniProt dbSNP |
|
RCV001090859 rs1553315352 VAR_027207 |
361 | P>L | SPG4 [UniProt] | Yes |
ClinVar UniProt dbSNP |
|
RCV000006011 rs121908509 VAR_010195 |
362 | S>C | Hereditary spastic paraplegia 4 SPG4 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
| VAR_075835 | 363 | L>P | SPG4 [UniProt] | Yes | UniProt |
|
RCV000986614 rs1573121790 |
364 | R>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_075836 rs1553315355 |
364 | R>M | Variant assessed as Somatic; impact. SPG4 [NCI-TCGA, UniProt] | Yes |
NCI-TCGA UniProt dbSNP |
|
rs1553315355 VAR_067636 |
364 | R>T | SPG4 [UniProt] | Yes |
UniProt dbSNP |
| VAR_067565 | 365 | P>S | SPG4; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV000713458 VAR_079315 rs1553315356 RCV001849078 |
366 | E>K | Hereditary spastic paraplegia SPG4; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
RCV001090861 VAR_075837 rs370845582 |
368 | F>L | SPG4 [UniProt] | Yes |
ClinVar dbSNP UniProt |
|
RCV000644886 rs1553316799 |
368 | F>S | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_079316 | 368 | F>V | SPG4; unknown pathological significance [UniProt] | Yes | UniProt |
| VAR_027208 | 370 | G>R | SPG4; promotes microtubule binding and the formation of thick microtubule bundles [UniProt] | Yes | UniProt |
|
RCV000449607 rs1060499670 RCV001848797 |
371 | L>F | Hereditary spastic paraplegia Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000497447 RCV000709816 rs1553316806 |
371 | L>R | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_075838 rs1553316807 |
372 | R>G | SPG4 [UniProt] | Yes |
UniProt dbSNP |
|
RCV000203812 rs864622327 |
372 | R>I | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002473041 rs1425976342 RCV000644904 |
372 | R>S | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_079317 | 372 | R>T | SPG4; unknown pathological significance [UniProt] | Yes | UniProt |
|
rs1057518880 RCV000414756 |
373 | A>missing | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1471030618 RCV000644887 |
374 | P>L | Hereditary spastic paraplegia 4 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
| VAR_075839 | 377 | G>E | SPG4 [UniProt] | Yes | UniProt |
|
rs1679215171 RCV001061316 |
377 | G>R | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000516040 VAR_067637 rs1553316816 VAR_019439 |
378 | L>Q | Hereditary spastic paraplegia SPG4 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs1553316816 VAR_067637 |
378 | L>R | SPG4 [UniProt] | Yes |
UniProt dbSNP |
|
VAR_067638 RCV000686755 rs1553316819 |
380 | L>H | Hereditary spastic paraplegia 4 SPG4 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
VAR_027209 rs1553316822 |
381 | F>C | SPG4; promotes microtubule binding and the formation of thick microtubule bundles [UniProt] | Yes |
UniProt dbSNP |
|
rs1553316826 VAR_067566 |
382 | G>R | SPG4; unknown pathological significance [UniProt] | Yes |
UniProt dbSNP |
|
RCV000817235 rs1573139616 |
384 | P>L | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_027210 rs1553316834 |
386 | N>K | SPG4; abrogates ATPase activity, promotes microtubule binding and the formation of thick microtubule bundles [UniProt] | Yes |
UniProt dbSNP |
|
VAR_019440 RCV001847586 RCV000006023 rs121908514 |
386 | N>S | Hereditary spastic paraplegia Hereditary spastic paraplegia 4 SPG4 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
| VAR_079318 | 386 | N>Y | SPG4; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV001050999 rs1679217117 |
387 | G>R | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000521931 rs1553316838 RCV000528465 |
388 | K>N | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_027211 rs1553316837 |
388 | K>R | SPG4; abrogates ATPase activity, promotes microtubule binding and the formation of thick microtubule bundles and impairs traffic from the ER to Golgi [UniProt] | Yes |
UniProt dbSNP |
|
RCV000168104 rs786204132 |
389 | T>A | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001364718 rs1131691971 RCV000494283 |
390 | M>I | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000578366 rs1131691977 |
390 | M>K | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000493449 rs1131691977 VAR_079319 |
390 | M>T | Variant assessed as Somatic; impact. SPG4; unknown pathological significance [NCI-TCGA, UniProt] | Yes |
ClinVar UniProt NCI-TCGA dbSNP |
|
RCV000478313 RCV000206286 rs797044850 VAR_019441 RCV000190649 |
390 | M>V | Hereditary spastic paraplegia 4 Inborn genetic diseases SPG4 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
VAR_067639 rs1553316845 |
391 | L>P | SPG4 [UniProt] | Yes |
UniProt dbSNP |
|
RCV000713459 RCV001726320 rs1558331867 |
392 | A>P | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_067640 | 393 | K>del | SPG4 [UniProt] | Yes | UniProt |
|
RCV001268359 RCV001050492 rs1679263902 |
394 | A>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000516537 VAR_027212 RCV000686298 rs1553317025 |
399 | S>L | Hereditary spastic paraplegia 4 Variant assessed as Somatic; impact. SPG4 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinVar UniProt NCI-TCGA dbSNP |
|
rs1553317025 RCV000536355 |
399 | S>W | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002225131 rs1679265391 RCV001311915 |
404 | F>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553317028 RCV001232194 RCV001268888 RCV000622527 |
404 | F>missing | Hereditary spastic paraplegia 4 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001240909 rs1679265515 |
404 | F>S | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_019449 | 404 | F>del | SPG4 [UniProt] | Yes | UniProt |
|
rs1553317032 RCV000548535 RCV001008119 |
405 | N>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000524548 rs1553317038 VAR_075840 |
406 | I>R | Hereditary spastic paraplegia 4 SPG4 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
VAR_026759 RCV001847589 RCV000006029 RCV000497406 rs587777757 |
406 | I>V | Hereditary spastic paraplegia Hereditary spastic paraplegia 4 SPG4 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
| VAR_067567 | 407 | S>I | SPG4; unknown pathological significance [UniProt] | Yes | UniProt |
|
rs1573142616 RCV000823946 |
407 | S>N | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553317041 VAR_019450 |
407 | S>R | Variant assessed as Somatic; impact. SPG4 [NCI-TCGA, UniProt] | Yes |
NCI-TCGA UniProt dbSNP |
|
RCV000713460 rs1553317043 RCV001209308 |
408 | A>V | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002525773 rs1064793273 RCV000481977 VAR_067641 |
409 | A>T | Hereditary spastic paraplegia 4 SPG4 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
RCV001237635 VAR_067642 rs1679266894 |
410 | S>R | Hereditary spastic paraplegia 4 SPG4 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
RCV000680107 rs1558331955 |
411 | L>S | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553317045 RCV000799219 VAR_067568 |
413 | S>L | Hereditary spastic paraplegia 4 SPG4 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs1679267183 RCV001229238 |
413 | S>T | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000713462 RCV000200188 rs863224513 |
414 | K>* | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000713463 rs1558336489 RCV002298751 |
416 | V>A | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001819904 RCV001213726 rs1553318161 |
417 | G>E | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553318164 RCV000644890 |
418 | E>* | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001091360 RCV000755019 rs1558336544 |
418 | E>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_079320 | 418 | E>A | SPG4; unknown pathological significance [UniProt] | Yes | UniProt |
|
rs1553318164 RCV001772134 RCV000819752 |
418 | E>K | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000699128 rs1558336551 |
420 | E>Q | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558336556 RCV000692625 |
421 | K>E | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_067569 RCV001300327 rs1679543653 |
422 | L>F | Hereditary spastic paraplegia 4 SPG4; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
VAR_010196 rs1553318169 |
424 | R>G | SPG4 [UniProt] | Yes |
UniProt dbSNP |
|
rs1060502227 RCV000644897 VAR_067643 RCV000626922 RCV000516596 |
426 | L>F | Hereditary spastic paraplegia 4 SPG4 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
RCV000482415 rs1060502227 RCV000459046 VAR_027213 |
426 | L>V | Hereditary spastic paraplegia 4 Variant assessed as Somatic; impact. SPG4; promotes microtubule binding and the formation of thick microtubule bundles [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinVar UniProt NCI-TCGA dbSNP |
|
RCV000168087 RCV000579036 RCV001847790 rs786204126 |
431 | R>* | Hereditary spastic paraplegia Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000709819 rs748779010 RCV000497999 |
431 | R>Q | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_075841 | 431 | R>del | SPG4 [UniProt] | Yes | UniProt |
|
rs1553318182 VAR_027214 |
435 | P>L | SPG4 [UniProt] | Yes |
UniProt dbSNP |
|
rs1553318184 VAR_027215 RCV000754869 |
436 | S>F | Hereditary spastic paraplegia 4 SPG4 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
| VAR_067644 | 436 | S>P | SPG4 [UniProt] | Yes | UniProt |
|
RCV000006018 RCV001849258 VAR_027216 rs121908512 |
441 | D>G | Hereditary spastic paraplegia 4 SPG4 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
| VAR_067645 | 441 | D>N | SPG4 [UniProt] | Yes | UniProt |
|
rs121908512 VAR_075842 RCV001238726 |
441 | D>V | Hereditary spastic paraplegia 4 SPG4 [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
rs1553318214 RCV001308595 |
442 | E>K | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553318215 RCV001215693 |
442 | E>V | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131691838 RCV000690267 VAR_067570 |
445 | S>N | Hereditary spastic paraplegia 4 SPG4; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
RCV000006030 rs121908519 |
445 | S>R | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001218540 rs1679553611 |
447 | L>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_010197 rs121908510 RCV000006012 |
448 | C>Y | Hereditary spastic paraplegia 4 SPG4; abrogates binding to the tail of beta-3-tubulin, abolishes microtubule severing and promotes the formation of thick microtubule bundles [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
RCV000644893 rs1553318223 |
450 | R>G | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1679553997 RCV001341398 RCV001508981 |
450 | R>K | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_075843 rs1553318224 |
450 | R>S | SPG4 [UniProt] | Yes |
UniProt dbSNP |
| VAR_075844 | 451 | R>del | SPG4 [UniProt] | Yes | UniProt |
|
RCV001205662 rs1384312757 RCV000993062 |
454 | E>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553318230 RCV000823324 VAR_067571 |
454 | E>K | Hereditary spastic paraplegia 4 SPG4 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs1573156283 RCV000819748 RCV001849119 |
455 | H>missing | Hereditary spastic paraplegia Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs863224769 RCV000198590 |
455 | H>D | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1573156341 RCV000791882 |
457 | A>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1036039694 RCV000693187 VAR_075845 |
458 | S>R | Hereditary spastic paraplegia 4 SPG4 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs1553318238 VAR_027217 RCV000677392 |
459 | R>G | Hereditary spastic paraplegia 4 SPG4 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
RCV000234461 rs878854990 VAR_067572 RCV001847989 RCV000713464 VAR_027218 |
460 | R>C | Hereditary spastic paraplegia Hereditary spastic paraplegia 4 Variant assessed as Somatic; impact. SPG4 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinVar UniProt NCI-TCGA dbSNP |
|
RCV001377876 RCV001268496 RCV001847217 rs1553318241 VAR_027219 |
460 | R>L | Hereditary spastic paraplegia Hereditary spastic paraplegia 4 Variant assessed as Somatic; impact. SPG4; promotes microtubule binding and the formation of thick microtubule bundles [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinVar UniProt NCI-TCGA dbSNP |
|
VAR_067572 rs878854990 |
460 | R>S | SPG4 [UniProt] | Yes |
UniProt dbSNP |
|
VAR_075846 rs1553318242 |
461 | L>P | SPG4 [UniProt] | Yes |
UniProt dbSNP |
|
VAR_067646 rs1553318248 |
463 | T>A | SPG4 [UniProt] | Yes |
UniProt dbSNP |
|
RCV000690967 rs1558336906 |
464 | E>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1679556566 RCV001847137 RCV001052644 |
464 | E>* | Hereditary spastic paraplegia Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_067647 rs1553318251 |
464 | E>A | SPG4; unknown pathological significance [UniProt] | Yes |
UniProt dbSNP |
|
rs1679556566 RCV001213823 RCV001847192 |
464 | E>K | Hereditary spastic paraplegia Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000006013 rs587777751 |
465 | F>* | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_027220 RCV000006024 rs121908516 |
470 | D>V | Hereditary spastic paraplegia 4 SPG4 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
VAR_079321 rs1553318261 RCV001219765 |
470 | D>Y | Hereditary spastic paraplegia 4 SPG4; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
RCV001062437 rs1679558360 |
471 | G>C | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553318274 RCV000526604 |
471 | G>D | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000197545 rs757130394 |
473 | Q>* | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1191508807 RCV000644901 |
478 | D>N | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000204013 rs864622268 |
479 | R>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000554278 rs1553318313 |
482 | V>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553318315 VAR_067573 |
482 | V>L | SPG4; unknown pathological significance [UniProt] | Yes |
UniProt dbSNP |
|
RCV001224680 rs1679565382 |
483 | M>T | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558337098 RCV000687432 |
484 | G>D | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001216975 rs1553318317 RCV000517007 RCV002281101 |
484 | G>R | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_079322 | 485 | A>T | SPG4; unknown pathological significance [UniProt] | Yes | UniProt |
|
rs536599683 VAR_027221 |
485 | A>V | SPG4 [UniProt] | Yes |
UniProt dbSNP |
|
RCV002222579 rs1553318320 RCV000644892 |
486 | T>A | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558337122 RCV000701279 |
486 | T>I | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558337136 RCV000707183 |
487 | N>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553318323 RCV000624733 |
487 | N>D | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000509270 rs1553318323 |
487 | N>H | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000644895 rs1553318329 |
488 | R>W | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553318331 VAR_027222 |
489 | P>L | SPG4 [UniProt] | Yes |
UniProt dbSNP |
|
rs1573157108 RCV000986616 |
490 | Q>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002473231 rs1553318336 RCV001228446 |
490 | Q>* | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_075847 | 490 | Q>del | SPG4 [UniProt] | Yes | UniProt |
|
VAR_067648 rs1553318337 |
492 | L>F | SPG4 [UniProt] | Yes |
UniProt dbSNP |
|
VAR_026760 rs1553318342 |
493 | D>G | SPG4 [UniProt] | Yes |
UniProt dbSNP |
|
rs1060499939 RCV001848846 RCV000476656 |
493 | D>H | Hereditary spastic paraplegia Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060499939 RCV000468399 |
493 | D>Y | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060502228 RCV001234587 |
495 | A>S | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060502228 RCV000468513 |
495 | A>T | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553318347 RCV000578417 |
495 | A>V | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs779662872 RCV001040989 |
496 | V>L | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_067649 | 498 | R>G | SPG4 [UniProt] | Yes | UniProt |
| VAR_079323 | 498 | R>M | SPG4; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV000644884 rs1553319075 |
498 | R>S | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs121908511 RCV000006014 VAR_010198 RCV000415256 RCV001847585 RCV000523541 |
499 | R>C | Hereditary spastic paraplegia Hereditary spastic paraplegia 4 Spastic paraparesis Variant assessed as Somatic; 0.0 impact. SPG4; abrogates ATPase activity, promotes microtubule binding and the formation of thick microtubule bundles [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinVar UniProt NCI-TCGA dbSNP |
|
RCV001814125 RCV000230990 VAR_026761 rs878854991 RCV000713467 RCV000623007 RCV001847990 |
499 | R>H | Hereditary spastic paraplegia Hereditary spastic paraplegia 4 Inborn genetic diseases SPG4 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs878854991 RCV000986617 |
499 | R>L | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001205823 rs121908511 |
499 | R>S | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001071158 rs1679732057 |
500 | F>C | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000702394 rs1558339891 |
502 | K>T | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_019442 rs1553319087 |
503 | R>L | SPG4 [UniProt] | Yes |
UniProt dbSNP |
| VAR_067650 | 503 | R>RR | SPG4 [UniProt] | Yes | UniProt |
|
RCV000585136 VAR_026762 RCV001847923 RCV000204046 rs864622162 |
503 | R>W | Hereditary spastic paraplegia Hereditary spastic paraplegia 4 Variant assessed as Somatic; 4.64e-05 impact. SPG4 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinVar UniProt NCI-TCGA dbSNP |
|
RCV001209331 rs1679732948 |
505 | Y>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000713468 RCV000790426 rs1443578852 |
509 | P>L | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553319092 RCV000533260 |
509 | P>T | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553319093 VAR_027223 |
512 | E>D | SPG4 [UniProt] | Yes |
UniProt dbSNP |
| VAR_067574 | 512 | E>del | SPG4; unknown pathological significance [UniProt] | Yes | UniProt |
|
rs1553319281 RCV000644888 |
513 | T>S | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553319286 RCV001091363 VAR_067651 |
514 | R>G | SPG4 [UniProt] | Yes |
ClinVar UniProt dbSNP |
| VAR_019443 | 515 | L>del | SPG4 [UniProt] | Yes | UniProt |
|
RCV000995883 RCV001664596 rs1553319290 |
518 | L>P | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553319296 RCV000644903 |
525 | Q>* | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553319298 RCV000644891 |
526 | G>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000820480 rs1573167562 |
528 | P>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002525083 rs1553319318 RCV000517927 |
534 | L>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_019444 RCV001053054 rs1553319317 |
534 | L>P | Hereditary spastic paraplegia 4 SPG4 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs1553319314 VAR_067575 |
534 | L>V | SPG4; unknown pathological significance [UniProt] | Yes |
UniProt dbSNP |
|
RCV000486146 RCV001193265 RCV000199081 RCV001795327 rs142053576 |
542 | D>G | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs869312949 RCV000210725 |
545 | S>* | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786204057 RCV000167918 |
546 | G>E | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_079324 | 546 | G>del | SPG4 [UniProt] | Yes | UniProt |
|
RCV001209517 rs1553319534 |
549 | L>P | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553319537 RCV000689829 VAR_067652 RCV001391566 |
550 | T>I | Hereditary spastic paraplegia 4 Spastic paraplegia SPG4; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
| VAR_019451 | 551 | A>Y | SPG4; requires 2 nucleotide substitutions [UniProt] | Yes | UniProt |
|
rs1553319548 VAR_075848 |
555 | D>G | SPG4 [UniProt] | Yes |
UniProt dbSNP |
|
rs1553319546 VAR_027224 |
555 | D>N | SPG4 [UniProt] | Yes |
UniProt dbSNP |
|
rs1558341948 RCV000686016 |
556 | A>P | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558341948 RCV000761357 |
556 | A>T | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_027225 | 556 | A>V | SPG4; promotes microtubule binding and the formation of thick microtubule bundles [UniProt] | Yes | UniProt |
|
RCV000415025 rs1057518873 |
557 | A>G | Spastic paraparesis [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_027226 RCV000205236 rs864622179 RCV001847924 RCV000432874 |
559 | G>D | Hereditary spastic paraplegia Hereditary spastic paraplegia 4 SPG4 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
RCV000228683 VAR_075849 rs878854992 RCV002472978 |
559 | G>R | Hereditary spastic paraplegia 4 SPG4 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs121908518 RCV000517099 RCV000644889 RCV001848905 |
562 | R>* | Hereditary spastic paraplegia Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000006027 rs121908518 VAR_027227 |
562 | R>G | Hereditary spastic paraplegia 4 SPG4 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
| VAR_067576 | 562 | R>P | SPG4; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV000195806 RCV001091364 rs863224923 RCV001847904 VAR_027228 |
562 | R>Q | Hereditary spastic paraplegia Hereditary spastic paraplegia 4 Variant assessed as Somatic; impact. SPG4 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinVar UniProt NCI-TCGA dbSNP |
| VAR_075850 | 562 | R>del | SPG4 [UniProt] | Yes | UniProt |
|
RCV001288791 rs1060502225 RCV001871722 |
576 | E>D | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000700492 rs1553321196 RCV000517986 |
577 | M>R | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001640291 rs144594804 RCV000509114 RCV000658865 RCV000193599 RCV001847874 RCV001391562 VAR_067653 |
579 | N>H | Hereditary spastic paraplegia Hereditary spastic paraplegia 4 Spastic ataxia Spastic paraplegia SPG4; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs1553321202 VAR_067654 |
580 | I>T | SPG4 [UniProt] | Yes |
UniProt dbSNP |
|
rs1259072587 RCV001290955 |
580 | I>V | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001038074 rs1680184249 |
581 | R>missing | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_075851 | 581 | R>del | SPG4 [UniProt] | Yes | UniProt |
| VAR_010199 | 584 | D>H | SPG4 [UniProt] | Yes | UniProt |
|
RCV001203992 rs778602122 |
585 | F>L | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002289681 rs1131691972 RCV000493133 |
588 | S>P | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1680185365 RCV001288792 RCV002542997 |
591 | K>* | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000644898 RCV001508983 rs1553321237 |
592 | I>K | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000585458 RCV001063727 rs145206063 |
595 | S>R | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_075852 rs1553321245 RCV001288793 |
595 | S>R | SPG4 [UniProt] | Yes |
ClinVar UniProt dbSNP |
|
RCV003166183 rs776152816 RCV000799691 |
602 | E>A | Hereditary spastic paraplegia 4 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001391564 rs368801051 RCV001288794 RCV001300707 |
603 | A>V | Hereditary spastic paraplegia 4 Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs372900676 RCV000194626 RCV000199776 |
605 | I>V | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553321266 VAR_026763 |
607 | W>C | SPG4 [UniProt] | Yes |
UniProt dbSNP |
|
rs1553321269 RCV000986618 |
613 | D>G | Hereditary spastic paraplegia 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000986619 rs1573186691 RCV001847122 VAR_019445 |
614 | T>I | Hereditary spastic paraplegia Hereditary spastic paraplegia 4 SPG4; variant form with congenital arachnoid cysts [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs765941217 VAR_019452 |
615 | T>I | SPG4 [UniProt] | Yes |
UniProt dbSNP |
|
CA346601179 rs1230051542 |
2 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 3 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346601188 rs1271058224 |
3 | S>Y | No |
ClinGen gnomAD |
|
|
CA346601190 rs937319046 |
4 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA346601192 rs751225341 |
4 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1600449 rs751225341 |
4 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA45201382 rs937319046 |
4 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1356764866 CA346601196 |
5 | G>D | No |
ClinGen TOPMed |
|
|
CA1600453 rs757518655 |
6 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA1600455 rs750900931 |
7 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs750900931 CA1600456 |
7 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA346601209 rs1477506013 |
8 | G>E | No |
ClinGen gnomAD |
|
|
rs950926374 CA346601208 CA45201383 |
8 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1676385056 RCV001268440 |
10 | K>missing | No |
ClinVar dbSNP |
|
|
CA346601232 rs1201815863 |
11 | K>R | No |
ClinGen TOPMed |
|
|
CA346601242 rs781222498 |
13 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs781222498 CA1600461 |
13 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA1600460 rs781222498 |
13 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA346601257 rs1330833579 |
15 | G>D | No |
ClinGen gnomAD |
|
|
CA346601253 rs1319401583 |
15 | G>R | No |
ClinGen gnomAD |
|
|
CA1600463 rs773348749 |
16 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA1600464 rs773348749 |
16 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1600465 rs770931525 |
16 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA346601267 rs1303074496 |
17 | S>R | No |
ClinGen gnomAD |
|
|
rs773913951 CA1600466 |
17 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA346601277 rs1474477736 |
19 | P>R | No |
ClinGen Ensembl |
|
|
rs372349942 CA1600468 |
19 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA45201384 rs931391628 |
20 | V>L | No |
ClinGen TOPMed |
|
|
rs1305710044 CA346601287 |
21 | P>L | No |
ClinGen TOPMed |
|
|
rs865867577 CA45201386 |
21 | P>T | No |
ClinGen Ensembl |
|
|
rs762209469 CA1600471 |
22 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346601307 rs758920536 |
25 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346601310 rs1573026974 |
25 | P>L | No |
ClinGen Ensembl |
|
|
CA1600474 rs758920536 |
25 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1600475 rs780359337 |
26 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1325448402 CA346601316 |
27 | P>T | No |
ClinGen gnomAD |
|
|
rs781516235 CA346601339 |
30 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346601353 rs1403480959 |
33 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs777721232 RCV000424827 CA1600482 |
33 | P>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1403480959 CA346601354 |
33 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs749021726 CA346601358 |
34 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs749021726 CA1600483 |
34 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA1600485 rs560002466 |
35 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1482010474 CA346601368 |
36 | A>P | No |
ClinGen TOPMed |
|
|
rs1482010474 CA346601367 |
36 | A>T | No |
ClinGen TOPMed |
|
|
CA1600487 rs771455657 |
37 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA346601373 rs771455657 |
37 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346601378 rs1219971550 |
38 | P>A | No |
ClinGen gnomAD |
|
|
rs1176214835 CA346601385 |
39 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA346601390 rs1183243810 |
40 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs763680682 CA1600490 |
40 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA45201389 rs374457601 |
41 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1600493 rs766958052 |
41 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1600492 rs374457601 |
41 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367843598 CA346601396 |
42 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346601398 rs1296638416 |
42 | P>H | No |
ClinGen gnomAD |
|
|
rs367843598 CA1600494 |
42 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1307698387 CA346601403 |
43 | E>G | No |
ClinGen gnomAD |
|
|
CA1600497 rs573642949 |
43 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346601409 rs121908515 |
44 | S>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346601407 rs1243604890 |
44 | S>P | No |
ClinGen gnomAD |
|
|
CA346601412 rs1471679928 |
45 | P>S | No |
ClinGen TOPMed |
|
|
CA45201391 rs1049586183 |
46 | H>Q | No |
ClinGen Ensembl |
|
|
RCV001288789 CA346601438 rs1553394475 |
47 | K>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA346601443 rs1177281921 |
47 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1600502 rs551192397 |
48 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs551192397 CA1600503 |
48 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1443355784 CA346601449 |
48 | R>W | No |
ClinGen gnomAD |
|
|
rs1386292852 CA346601464 |
49 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1168673606 CA346601472 |
50 | L>Q | No |
ClinGen gnomAD |
|
|
rs1462628095 CA346601490 |
51 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA1600505 rs768329149 |
52 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA346601515 rs527270185 |
53 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766648601 CA1600508 |
54 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1600509 rs547463793 |
54 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766648601 CA346601518 |
54 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA45201393 rs1024477382 |
58 | F>C | No |
ClinGen Ensembl |
|
|
rs145571171 CA346601576 |
58 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs931354945 CA45201394 |
59 | V>A | No |
ClinGen TOPMed |
|
|
CA1600514 rs764456416 |
62 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA346601642 rs757145918 |
65 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA1600516 rs757145918 |
65 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs202003376 CA45201395 |
70 | H>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA1600519 rs758274040 |
70 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1422024147 CA346601706 |
70 | H>Y | No |
ClinGen gnomAD |
|
|
rs1177262272 CA346601728 |
72 | G>W | No |
ClinGen TOPMed |
|
|
rs779926776 CA1600520 |
73 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1600523 rs780887978 |
74 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs971672853 CA45201396 |
75 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs550314787 CA1600525 |
76 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774581016 CA1600526 |
77 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1282219584 CA346601841 |
79 | C>Y | No |
ClinGen gnomAD |
|
|
rs1676403099 RCV001268263 |
80 | Q>* | No |
ClinVar dbSNP |
|
|
rs759901984 CA1600527 |
81 | R>C | No |
ClinGen ExAC gnomAD |
|
|
RCV000713471 rs1558605895 CA346601889 |
82 | F>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA1600530 rs776114823 |
84 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346601929 rs1446944431 |
84 | R>P | No |
ClinGen gnomAD |
|
|
rs944177131 CA45201397 |
85 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1600532 rs764268577 |
86 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1600531 rs764268577 |
86 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346601985 rs1230056343 |
87 | M>K | No |
ClinGen TOPMed |
|
| TCGA novel | 87 | M>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA45201398 rs868240769 |
88 | A>E | No |
ClinGen gnomAD |
|
|
CA346602000 rs1199029334 |
88 | A>T | No |
ClinGen gnomAD |
|
|
rs761956992 CA346602017 |
89 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs761956992 CA1600533 |
89 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1676404879 RCV001268870 |
90 | K>missing | No |
ClinVar dbSNP |
|
|
rs765434650 CA1600534 |
90 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369656700 CA346602054 |
91 | R>T | No |
ClinGen Ensembl |
|
|
CA45201400 rs914939428 |
92 | S>R | No |
ClinGen Ensembl |
|
|
CA346602080 rs1156801351 |
93 | S>A | No |
ClinGen gnomAD |
|
|
CA346602082 rs1156801351 RCV000727928 |
93 | S>P | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1408601862 CA346602087 |
93 | S>Y | No |
ClinGen TOPMed |
|
|
CA1600536 rs758163974 |
94 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs780016543 CA1600537 |
95 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1314430315 CA346602139 |
97 | P>L | No |
ClinGen gnomAD |
|
|
rs372005558 CA346602133 |
97 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1286924968 CA346602143 |
98 | A>T | No |
ClinGen gnomAD |
|
|
CA1600541 rs769360391 |
99 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs777431950 CA1600544 |
100 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA346602200 rs1558606073 |
102 | A>T | No |
ClinGen Ensembl |
|
|
CA45201404 rs1054078640 |
103 | S>P | No |
ClinGen TOPMed |
|
|
CA1600548 rs776209431 |
105 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1162709481 CA346602250 |
105 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1162709481 CA346602252 |
105 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA346602262 rs1385218846 |
106 | A>E | No |
ClinGen TOPMed |
|
|
CA1600552 rs1385218846 |
106 | A>G | No |
ClinGen TOPMed |
|
|
rs769230309 CA1600550 |
106 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA1600551 rs1385218846 |
106 | A>V | No |
ClinGen TOPMed |
|
|
CA346602268 rs1338843615 |
107 | P>A | No |
ClinGen TOPMed |
|
|
CA1600555 rs776858496 |
107 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762722729 CA1600559 |
109 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762722729 CA1600558 |
109 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1049148058 CA45201407 |
109 | P>T | No |
ClinGen Ensembl |
|
|
CA346602312 rs751295729 |
111 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA1600560 rs751295729 |
111 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA346602319 rs1553394603 |
112 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1553394608 CA346602341 |
114 | E>* | No |
ClinGen Ensembl |
|
|
CA346602367 rs1553394618 |
117 | R>* | No |
ClinGen Ensembl |
|
|
rs1553394622 RCV000516217 |
121 | K>missing | No |
ClinVar dbSNP |
|
|
CA346602393 rs1553394620 |
121 | K>* | No |
ClinGen Ensembl |
|
|
CA346602403 RCV000993069 rs1233469782 |
122 | Q>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA346602402 rs1233469782 |
122 | Q>E | No |
ClinGen gnomAD |
|
|
CA346602406 rs1440263044 |
122 | Q>L | No |
ClinGen gnomAD |
|
|
rs1440263044 CA346602405 |
122 | Q>R | No |
ClinGen gnomAD |
|
|
CA346602424 rs1553394635 |
125 | E>* | No |
ClinGen Ensembl |
|
|
rs781065348 CA1600562 |
126 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781065348 CA346602434 |
126 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346602438 rs1395313104 |
127 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA346602444 rs1407788328 |
127 | I>M | No |
ClinGen gnomAD |
|
|
CA346602439 rs1395313104 |
127 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1573028495 CA346602447 |
128 | S>A | No |
ClinGen Ensembl |
|
|
rs1362108129 CA346602452 |
129 | I>V | No |
ClinGen TOPMed |
|
|
CA346602472 rs1400347119 |
132 | R>H | No |
ClinGen gnomAD |
|
|
rs1183326605 CA346602491 |
135 | E>* | No |
ClinGen gnomAD |
|
|
rs770472723 CA45201413 |
135 | E>D | No |
ClinGen Ensembl |
|
|
rs1183326605 CA346602490 |
135 | E>Q | No |
ClinGen gnomAD |
|
|
rs1676417081 RCV001288795 |
137 | E>missing | No |
ClinVar dbSNP |
|
|
rs1452605902 CA346602505 |
137 | E>K | No |
ClinGen gnomAD |
|
|
rs1313534781 CA346602514 |
138 | K>* | No |
ClinGen gnomAD |
|
|
CA346602515 rs1313534781 |
138 | K>E | No |
ClinGen gnomAD |
|
|
rs940748715 CA346602521 |
139 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA45201414 rs940748715 |
139 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
RCV001268109 rs756977900 |
142 | K>* | No |
ClinVar dbSNP |
|
| TCGA novel | 146 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1677532605 RCV001288796 |
149 | Y>* | No |
ClinVar dbSNP |
|
|
rs1677532829 RCV001288797 |
151 | K>missing | No |
ClinVar dbSNP |
|
|
RCV001268504 rs1677533134 |
153 | I>missing | No |
ClinVar dbSNP |
|
|
RCV001268106 RCV001267949 rs1677533628 |
159 | G>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 159 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 164 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1348365687 | 167 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 173 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1331924378 | 176 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs768664944 | 180 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000412810 rs1057517974 |
191 | R>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 191 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001172135 rs374578162 |
216 | T>S | No |
ClinVar dbSNP |
|
| rs1373260655 | 219 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs765786158 | 221 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1458104027 | 228 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_067630 rs1182763020 |
229 | S>G | No |
UniProt dbSNP |
|
|
rs1678753761 RCV001268052 |
235 | R>missing | No |
ClinVar dbSNP |
|
|
rs1553314880 RCV001090857 |
239 | L>* | No |
ClinVar dbSNP |
|
| rs201395991 | 248 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 250 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1476604329 | 256 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1678758382 RCV001291612 |
259 | G>V | No |
ClinVar dbSNP |
|
|
RCV001291614 rs1678758915 |
260 | L>* | No |
ClinVar dbSNP |
|
|
rs768241184 RCV000517216 |
261 | S>* | No |
ClinVar dbSNP |
|
| rs768241184 | 261 | S>L | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001291615 rs1678759130 |
262 | G>missing | No |
ClinVar dbSNP |
|
|
rs1678759023 RCV001268872 |
262 | G>missing | No |
ClinVar dbSNP |
|
|
RCV001291616 rs1678759604 |
263 | H>* | No |
ClinVar dbSNP |
|
|
RCV000579117 rs1553314951 |
281 | G>* | No |
ClinVar dbSNP |
|
|
rs1558323598 RCV000713473 |
282 | S>missing | No |
ClinVar dbSNP |
|
| rs750360074 | 286 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1678765220 RCV001311913 |
289 | H>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 292 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001268001 rs1678803052 |
294 | K>* | No |
ClinVar dbSNP |
|
| rs758338312 | 301 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000480453 rs1553315188 |
305 | T>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 307 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs140642309 | 313 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000993070 rs1573120705 |
315 | K>* | No |
ClinVar dbSNP |
|
|
rs1553315323 RCV000518170 |
344 | I>missing | No |
ClinVar dbSNP |
|
|
RCV000599303 rs1553315336 |
353 | A>missing | No |
ClinVar dbSNP |
|
|
rs1553315342 RCV000713457 |
354 | L>W | No |
ClinVar dbSNP |
|
|
RCV001268317 rs1678826642 |
355 | Q>* | No |
ClinVar dbSNP |
|
| rs1553315350 | 361 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1678828583 RCV001311914 |
365 | P>R | No |
ClinVar dbSNP |
|
|
rs1678828780 RCV001090860 |
366 | E>V | No |
ClinVar dbSNP |
|
|
rs1060499670 RCV001268059 |
371 | L>V | No |
ClinVar dbSNP |
|
|
RCV000518212 rs1553316810 |
374 | P>S | No |
ClinVar dbSNP |
|
| rs1553316832 | 385 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000516819 rs1553316843 |
390 | M>missing | No |
ClinVar dbSNP |
|
|
rs1679264713 RCV001268406 |
402 | T>missing | No |
ClinVar dbSNP |
|
|
rs1553317029 RCV000513229 |
403 | F>missing | No |
ClinVar dbSNP |
|
|
RCV000423551 rs1057520127 |
404 | F>missing | No |
ClinVar dbSNP |
|
|
rs1558331940 RCV000713461 |
409 | A>missing | No |
ClinVar dbSNP |
|
|
rs1573142681 RCV000997107 |
414 | K>missing | No |
ClinVar dbSNP |
|
| rs762514549 | 415 | Y>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553318161 RCV001288453 |
417 | G>A | No |
ClinVar dbSNP |
|
|
rs1679543364 RCV001091361 |
421 | K>missing | No |
ClinVar dbSNP |
|
|
rs1553318168 VAR_035902 |
423 | V>L | a breast cancer sample; somatic mutation [UniProt] | No |
UniProt dbSNP |
|
rs1679543897 RCV001268550 |
426 | L>missing | No |
ClinVar dbSNP |
|
|
rs1553318177 RCV000517525 |
430 | A>missing | No |
ClinVar dbSNP |
|
|
RCV000483038 rs1064796279 |
435 | P>S | No |
ClinVar dbSNP |
|
|
rs1553318188 RCV001268666 |
441 | D>Y | No |
ClinVar dbSNP |
|
| rs1553318214 | 442 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000360918 rs886041597 |
444 | D>G | No |
ClinVar dbSNP |
|
| TCGA novel | 445 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1131691838 RCV000492936 |
445 | S>T | No |
ClinVar dbSNP |
|
| TCGA novel | 447 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1330471269 | 456 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000498331 rs562431619 |
458 | S>T | No |
ClinVar dbSNP |
|
|
RCV000993063 rs1573156433 |
462 | K>N | No |
ClinVar dbSNP |
|
|
RCV000993064 rs1573156486 |
466 | L>P | No |
ClinVar dbSNP |
|
|
RCV000993065 rs1573156509 |
467 | I>V | No |
ClinVar dbSNP |
|
|
RCV001268067 rs1679557890 |
469 | F>missing | No |
ClinVar dbSNP |
|
|
rs121908516 RCV001288790 |
470 | D>A | No |
ClinVar dbSNP |
|
|
rs1573157000 RCV001008528 |
485 | A>missing | No |
ClinVar dbSNP |
|
|
rs1553318338 RCV000486611 |
493 | D>missing | No |
ClinVar dbSNP |
|
|
rs779662872 RCV000513580 |
496 | V>I | No |
ClinVar dbSNP |
|
|
rs1057519108 RCV000416048 |
501 | I>L | No |
ClinVar dbSNP |
|
| TCGA novel | 528 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1558340832 RCV000713470 |
529 | L>* | No |
ClinVar dbSNP |
|
| rs757690966 | 533 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 542 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1057518873 RCV000997108 |
557 | A>V | No |
ClinVar dbSNP |
|
|
RCV001268664 rs1679916151 |
568 | Q>missing | No |
ClinVar dbSNP |
|
|
rs1131691684 RCV000493102 |
572 | M>V | No |
ClinVar dbSNP |
|
| rs778023258 | 581 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs749484350 | 581 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553321232 RCV000513378 |
592 | I>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 592 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 594 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1412403865 | 596 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000485606 rs1553321261 |
606 | R>missing | No |
ClinVar dbSNP |
No associated diseases with Q9UBP0
9 regional properties for Q9UBP0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Armadillo | 112 - 196 | IPR000225-1 |
| repeat | Armadillo | 198 - 239 | IPR000225-2 |
| repeat | Armadillo | 242 - 281 | IPR000225-3 |
| repeat | Armadillo | 283 - 323 | IPR000225-4 |
| repeat | Armadillo | 325 - 365 | IPR000225-5 |
| repeat | Armadillo | 367 - 407 | IPR000225-6 |
| repeat | Armadillo | 410 - 450 | IPR000225-7 |
| domain | Importin-alpha, importin-beta-binding domain | 1 - 102 | IPR002652 |
| repeat | Atypical Arm repeat | 464 - 513 | IPR032413 |
Functions
| Description | ||
|---|---|---|
| EC Number | 5.6.1.1 | Enzymes altering polypeptide conformation or assembly |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
19 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| axon cytoplasm | Any cytoplasm that is part of a axon. |
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic vesicle | A vesicle found in the cytoplasm of a cell. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| endoplasmic reticulum tubular network | A subcompartment of the endoplasmic reticulum consisting of tubules having membranes with high curvature in cross-section. |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| 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. |
| 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. |
| lipid droplet | An intracellular non-membrane-bounded organelle comprising a matrix of coalesced lipids surrounded by a phospholipid monolayer. May include associated proteins. |
| microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
| midbody | A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis. |
| nuclear membrane | Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. |
| 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. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| spindle pole | Either of the ends of a spindle, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| alpha-tubulin binding | Binding to the microtubule constituent protein alpha-tubulin. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| beta-tubulin binding | Binding to the microtubule constituent protein beta-tubulin. |
| isomerase activity | Catalysis of the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5. |
| microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
| microtubule severing ATPase activity | Catalysis of the reaction: ATP + H2O = ADP + phosphate. Catalysis of the severing of a microtubule at a specific spot along its length, coupled to the hydrolysis of ATP. |
| protein-containing complex binding | Binding to a macromolecular complex. |
19 GO annotations of biological process
| Name | Definition |
|---|---|
| anterograde axonal transport | The directed movement of organelles or molecules along microtubules from the cell body toward the cell periphery in nerve cell axons. |
| axonal transport of mitochondrion | The directed movement of mitochondria along microtubules in nerve cell axons. |
| axonogenesis | De novo generation of a long process of a neuron, including the terminal branched region. Refers to the morphogenesis or creation of shape or form of the developing axon, which carries efferent (outgoing) action potentials from the cell body towards target cells. |
| cytokinetic process | A cellular process that is involved in cytokinesis (the division of the cytoplasm of a cell and its separation into two daughter cells). |
| cytoskeleton-dependent cytokinesis | A cytokinesis that involves the function of a set of proteins that are part of the microfilament or microtubule cytoskeleton. |
| endoplasmic reticulum to Golgi vesicle-mediated transport | The directed movement of substances from the endoplasmic reticulum (ER) to the Golgi, mediated by COP II vesicles. Small COP II coated vesicles form from the ER and then fuse directly with the cis-Golgi. Larger structures are transported along microtubules to the cis-Golgi. |
| exit from mitosis | The cell cycle transition where a cell leaves M phase and enters a new G1 phase. M phase is the part of the mitotic cell cycle during which mitosis and cytokinesis take place. |
| membrane fission | A process that is carried out at the cellular level which results in the separation of a single continuous membrane into two membranes. |
| metabolic process | The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation. |
| microtubule bundle formation | A process that results in a parallel arrangement of microtubules. |
| microtubule severing | The process in which a microtubule is broken down into smaller segments. Severing enzymes remove dimers from the middle of the filament to create new ends, unlike depolymerizing kinesins that use ATP to uncap microtubules at their ends. |
| mitotic cytokinesis | A cell cycle process that results in the division of the cytoplasm of a cell after mitosis, resulting in the separation of the original cell into two daughter cells. |
| mitotic nuclear membrane reassembly | The mitotic cell cycle process involving ESCRTIII that results in reformation of the nuclear envelope after mitotic nuclear division. In organisms undergoing closed mitosis this involves resealing or 'repair' of the nuclear envelope in the nuclear bridge. |
| mitotic spindle disassembly | The controlled breakdown of the spindle during a mitotic cell cycle. |
| nuclear membrane reassembly | The reformation of the nuclear membranes following their breakdown in the context of a normal process. |
| positive regulation of cytokinesis | Any process that activates or increases the frequency, rate or extent of the division of the cytoplasm of a cell, and its separation into two daughter cells. |
| positive regulation of microtubule depolymerization | Any process that activates or increases the frequency, rate or extent of microtubule depolymerization. |
| protein hexamerization | The formation of a protein hexamer, a macromolecular structure consisting of six noncovalently associated identical or nonidentical subunits. |
| protein homooligomerization | The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer. |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9VQN8 | CG3326 | Fidgetin-like protein 1 | Drosophila melanogaster (Fruit fly) | PR |
| O75351 | VPS4B | Vacuolar protein sorting-associated protein 4B | Homo sapiens (Human) | PR |
| Q9UN37 | VPS4A | Vacuolar protein sorting-associated protein 4A | Homo sapiens (Human) | EV |
| O75449 | KATNA1 | Katanin p60 ATPase-containing subunit A1 | Homo sapiens (Human) | PR |
| A6NCM1 | IQCA1L | IQ and AAA domain-containing protein 1-like | Homo sapiens (Human) | PR |
| Q86XH1 | IQCA1 | Dynein regulatory complex protein 11 | Homo sapiens (Human) | PR |
| Q6PIW4 | FIGNL1 | Fidgetin-like protein 1 | Homo sapiens (Human) | PR |
| A6H690 | Iqca1l | IQ and AAA domain-containing protein 1-like | Mus musculus (Mouse) | PR |
| Q6AXQ7 | Iqca1l | IQ and AAA domain-containing protein 1-like | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNSPGGRGKK | KGSGGASNPV | PPRPPPPCLA | PAPPAAGPAP | PPESPHKRNL | YYFSYPLFVG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FALLRLVAFH | LGLLFVWLCQ | RFSRALMAAK | RSSGAAPAPA | SASAPAPVPG | GEAERVRVFH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KQAFEYISIA | LRIDEDEKAG | QKEQAVEWYK | KGIEELEKGI | AVIVTGQGEQ | CERARRLQAK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MMTNLVMAKD | RLQLLEKMQP | VLPFSKSQTD | VYNDSTNLAC | RNGHLQSESG | AVPKRKDPLT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HTSNSLPRSK | TVMKTGSAGL | SGHHRAPSYS | GLSMVSGVKQ | GSGPAPTTHK | GTPKTNRTNK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PSTPTTATRK | KKDLKNFRNV | DSNLANLIMN | EIVDNGTAVK | FDDIAGQDLA | KQALQEIVIL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PSLRPELFTG | LRAPARGLLL | FGPPGNGKTM | LAKAVAAESN | ATFFNISAAS | LTSKYVGEGE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KLVRALFAVA | RELQPSIIFI | DEVDSLLCER | REGEHDASRR | LKTEFLIEFD | GVQSAGDDRV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LVMGATNRPQ | ELDEAVLRRF | IKRVYVSLPN | EETRLLLLKN | LLCKQGSPLT | QKELAQLARM |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TDGYSGSDLT | ALAKDAALGP | IRELKPEQVK | NMSASEMRNI | RLSDFTESLK | KIKRSVSPQT |
| 610 | |||||
| LEAYIRWNKD | FGDTTV |