Q9NVS9
PR
Gene name |
PNPO |
Protein name |
Pyridoxine-5'-phosphate oxidase |
Names |
Pyridoxamine-phosphate oxidase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55163 |
EC number |
1.4.3.5: With oxygen as acceptor |
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
235 variants for Q9NVS9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs796052870 RCV002514031 RCV000188504 |
1 | M>T | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2035936049 RCV001060054 |
2 | T>A | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
CA316544 rs773614378 RCV000188487 CA400054610 RCV000822924 |
4 | W>C | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV000795915 CA400054602 rs1466672254 |
4 | W>S | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000658266 CA400054643 rs1426940419 RCV001855369 |
7 | G>D | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs895290391 CA291293077 RCV000644624 |
10 | A>P | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA291293093 rs1025645549 RCV001218278 RCV000594305 |
13 | G>W | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs906198568 RCV001127769 |
20 | G>A | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001066236 rs906198568 |
20 | G>V | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400054863 rs766650337 RCV001038899 |
21 | Y>F | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000188505 CA316578 RCV000816852 rs796052871 |
30 | A>V | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA8629099 rs765314515 RCV000463348 |
31 | A>P | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA316580 RCV000697945 RCV000188506 RCV002381636 rs370243877 |
33 | D>V | Inborn genetic diseases Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001208787 rs2035939125 |
36 | P>S | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001322274 rs2035939209 |
37 | M>T | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002517968 rs797045893 CA209893 RCV000195225 |
40 | S>N | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000188488 VAR_029358 CA316546 RCV001042917 rs549477447 RCV002271452 |
50 | E>K | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA291294263 RCV000658470 RCV001047815 rs141119385 |
52 | H>P | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV000188489 rs145461623 RCV000531770 CA316548 RCV002399699 |
56 | L>R | Inborn genetic diseases Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA400056163 rs1598197051 RCV001253689 |
62 | F>L | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001243020 rs2035968630 |
69 | A>missing | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001305231 CA8629121 rs781092815 |
73 | P>S | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs370329917 CA291294359 CA400056375 RCV000692265 |
76 | G>R | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ESP TOPMed gnomAD ClinVar dbSNP |
|
RCV001306228 rs2035969639 |
86 | C>Y | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1489587035 RCV001352262 CA400056857 |
90 | G>E | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA400056940 RCV000625618 rs1555563203 |
94 | A>V | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001053333 rs552833222 CA8629143 |
95 | R>H | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1483600034 RCV001349412 |
95 | R>S | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000725551 rs781657980 CA316552 RCV000799614 |
103 | G>R | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2035985793 RCV001050595 |
107 | F>V | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001255047 rs746311862 RCV000803219 CA8629147 RCV000492833 COSM1262651 |
108 | R>C | oesophagus Pyridoxal phosphate-responsive seizures [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001241155 rs769985808 CA400057151 |
108 | R>H | Variant assessed as Somatic; impact. Pyridoxal phosphate-responsive seizures [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA8629148 RCV000707078 rs769985808 RCV002532862 |
108 | R>L | Inborn genetic diseases Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001852484 CA316554 rs796052868 RCV000188492 |
114 | E>K | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_029359 CA154714 RCV001707529 rs17679445 RCV000118002 RCV000357367 RCV002312225 |
116 | R>Q | Pyridoxal phosphate-responsive seizures Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001348204 rs1245491170 CA400057440 |
120 | E>A | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000705367 rs891457932 CA291296112 |
129 | L>F | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000768042 CA400057950 rs1567713601 |
132 | Y>C | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8629173 rs766311956 RCV002374714 RCV000439228 |
133 | W>* | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001037490 CA8629176 RCV001547187 rs764940495 |
138 | R>H | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8629192 RCV000822604 RCV000731181 rs759335202 |
141 | R>H | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001552826 rs762554901 RCV002553985 RCV001066154 CA8629195 |
144 | G>A | Inborn genetic diseases Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs373528454 RCV001062493 |
145 | P>L | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8629197 RCV001342760 RCV000444875 rs551097300 |
145 | P>S | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs2036000732 RCV001038395 |
148 | K>Q | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
rs796052872 RCV000188508 RCV000194659 |
150 | P>missing | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000188494 RCV001824130 rs146027425 CA316557 |
161 | R>C | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2036001365 RCV001208322 |
162 | P>S | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
rs546737191 RCV000127503 RCV000644625 RCV002336278 CA292813 |
167 | I>T | Pyridoxal phosphate-responsive seizures Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000006899 rs267606958 CA118332 |
174 | Q>* | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001066788 rs142969923 CA8629215 |
176 | S>C | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000494264 RCV001319157 rs1131691848 |
180 | D>H | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000692339 RCV001705034 rs377328326 CA316561 RCV002345675 |
181 | R>Q | Pyridoxal phosphate-responsive seizures Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA291296576 RCV000808160 rs878944960 |
181 | R>W | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs138727329 RCV000188507 CA316582 RCV000537518 |
182 | E>K | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1315253583 CA400061153 RCV001068313 |
183 | Y>D | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA400061984 RCV002312481 rs1567714106 |
209 | Y>C | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs146339491 RCV001217215 CA8629262 RCV000728372 |
210 | V>F | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002372295 RCV000815032 CA8629264 rs776248931 |
219 | W>* | Inborn genetic diseases Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000266322 rs886053101 CA10649576 |
223 | T>I | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA316564 RCV000850584 RCV000188498 rs769266169 |
225 | R>C | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs550423482 VAR_078229 CA354181 |
225 | R>H | PNPOD [UniProt] | Yes |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA8629266 rs762176765 RCV001228196 |
227 | H>Y | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA316568 RCV000188500 VAR_078643 rs773450573 RCV000208780 |
229 | R>Q | Pyridoxal phosphate-responsive seizures PNPOD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs104894629 CA118329 RCV000006896 VAR_029360 |
229 | R>W | Variant assessed as Somatic; 4.619e-05 impact. Pyridoxal phosphate-responsive seizures PNPOD; strong activity decrease [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002372151 RCV000696565 rs144390543 CA316570 RCV000188501 |
233 | R>Q | Pyridoxal phosphate-responsive seizures Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002317580 rs139643093 CA8629268 RCV001576788 RCV000810123 |
233 | R>W | Pyridoxal phosphate-responsive seizures Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs368943864 RCV001241692 CA316572 RCV000188502 |
234 | R>W | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001305108 CA291297207 rs886937123 |
240 | D>E | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001305983 rs2036015748 |
241 | S>Y | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001224895 rs2036016316 RCV001751435 |
245 | P>L | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
CA400063262 RCV001206884 rs1233788410 |
246 | M>V | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001065054 CA8629274 rs751372839 |
250 | G>R | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs757023013 RCV000698165 CA8629275 |
253 | D>E | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8629276 rs148784343 RCV002404482 RCV000537828 |
256 | Y>C | Inborn genetic diseases Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002408844 CA316574 RCV000475544 rs769125577 RCV000188503 |
261 | P>L | Inborn genetic diseases Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000006898 CA118330 rs104894631 |
262 | P>Q | Pyridoxal phosphate-responsive seizures [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000188486 rs796052867 |
1 | M>missing | No |
ClinVar dbSNP |
|
|
RCV000432032 rs1057524504 |
1 | M>I | No |
ClinVar dbSNP |
|
|
rs1261860464 CA400054589 |
3 | C>* | No |
ClinGen gnomAD |
|
|
CA400054582 rs1209967242 |
3 | C>Y | No |
ClinGen gnomAD |
|
|
rs1466672254 CA400054600 |
4 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1020696698 CA291293051 |
6 | R>Q | No |
ClinGen TOPMed |
|
|
rs1191421434 CA400054635 |
7 | G>S | No |
ClinGen gnomAD |
|
|
rs902178367 CA291293071 |
8 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs902178367 CA400054660 |
8 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA400054706 rs1458805589 |
11 | T>K | No |
ClinGen gnomAD |
|
|
CA400054730 rs1395423512 |
12 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs558509878 CA291293090 |
12 | F>V | No |
ClinGen 1000Genomes |
|
|
rs1441842851 CA400054748 |
14 | R>* | No |
ClinGen gnomAD |
|
|
CA8629095 rs761011220 |
15 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA400054775 rs1365881596 |
16 | A>S | No |
ClinGen gnomAD |
|
|
rs1308221954 CA400054787 |
17 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1308221954 CA400054784 COSM1521303 |
17 | E>K | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA400054835 rs1207470036 |
19 | P>L | No |
ClinGen gnomAD |
|
|
CA291293105 rs906198568 |
20 | G>D | No |
ClinGen gnomAD |
|
|
CA8629096 rs766650337 |
21 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs753990378 CA8629097 |
22 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400054891 rs1248058627 |
23 | S>G | No |
ClinGen gnomAD |
|
|
rs866973135 CA291293115 |
28 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs866973135 CA400054961 |
28 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA400055046 rs867437142 CA291293149 |
32 | M>I | No |
ClinGen gnomAD |
|
|
rs1406056157 CA400055025 |
32 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1299097842 CA400055090 |
35 | G>E | No |
ClinGen gnomAD |
|
|
rs1352724082 CA400055098 |
36 | P>L | No |
ClinGen gnomAD |
|
|
CA400055106 rs1227036949 CA400055107 |
37 | M>I | No |
ClinGen gnomAD |
|
|
CA400055109 rs866454740 |
38 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs866852548 CA291293167 |
38 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA291293166 rs866454740 |
38 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1291472865 CA400055142 |
42 | R>C | No |
ClinGen gnomAD |
|
|
rs957748980 CA291293211 |
43 | G>E | No |
ClinGen gnomAD |
|
|
CA291293205 rs867426939 |
43 | G>R | No |
ClinGen Ensembl |
|
|
rs758405614 CA8629100 |
44 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA400055168 rs866218000 |
44 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs866218000 CA291293228 |
44 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA291293232 rs989618414 |
45 | R>G | No |
ClinGen Ensembl |
|
|
CA400055187 rs975643797 |
45 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs975643797 CA291293243 |
45 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA291294270 rs764734750 |
52 | H>Q | No |
ClinGen TOPMed |
|
|
rs765350767 CA8629117 |
52 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8629119 rs751477334 |
60 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA291294309 rs866059038 |
63 | A>D | No |
ClinGen Ensembl |
|
|
CA400056192 rs1250051436 |
64 | A>P | No |
ClinGen gnomAD |
|
|
CA8629120 rs757132967 |
65 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1294398642 CA400056277 |
69 | A>T | No |
ClinGen gnomAD |
|
|
CA400056304 rs1378523782 |
71 | Q>* | No |
ClinGen gnomAD |
|
|
rs1479227098 CA400056327 |
72 | C>Y | No |
ClinGen gnomAD |
|
|
rs1315721206 CA400056422 |
78 | A>D | No |
ClinGen gnomAD |
|
|
rs745625617 CA8629122 |
78 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1555563063 RCV000592434 |
79 | N>missing | No |
ClinVar dbSNP |
|
|
rs755839067 CA8629123 |
79 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA400056473 rs1220830502 |
81 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA291294406 rs762138576 RCV000490130 |
84 | A>G | No |
ClinGen ClinVar ExAC dbSNP |
|
|
CA400056532 rs1283067013 |
84 | A>T | No |
ClinGen TOPMed |
|
|
rs762138576 CA8629125 |
84 | A>V | No |
ClinGen ExAC |
|
|
rs1238392081 CA400056818 |
89 | D>N | No |
ClinGen gnomAD |
|
|
rs753372216 CA8629142 |
92 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs779757740 CA8629141 |
92 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1483600034 CA400056949 |
95 | R>C | No |
ClinGen gnomAD |
|
|
COSM436773 rs1157720813 CA400056976 |
96 | M>I | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA8629145 rs747628769 |
100 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs771479988 CA8629146 |
101 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA400057191 rs1423987420 |
109 | F>L | No |
ClinGen gnomAD |
|
|
rs1466021262 CA400057171 |
109 | F>L | No |
ClinGen TOPMed |
|
|
CA8629153 rs148839273 |
116 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750257461 CA8629154 |
118 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1278450823 CA400057675 |
122 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA291296083 rs1031368244 |
122 | D>N | No |
ClinGen TOPMed |
|
|
rs748239034 CA8629169 |
123 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs748239034 CA400057694 |
123 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA400057698 rs1427738215 |
124 | N>H | No |
ClinGen gnomAD |
|
|
CA400057718 rs1176578340 |
124 | N>K | No |
ClinGen gnomAD |
|
|
COSM1710407 rs772217035 CA8629170 |
125 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs773220809 CA8629171 |
128 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1598199201 CA400057831 |
128 | S>F | No |
ClinGen Ensembl |
|
|
CA400058021 rs1361571589 |
134 | E>G | No |
ClinGen gnomAD |
|
|
rs776343192 CA8629174 |
134 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1567713616 CA400058064 |
135 | P>L | No |
ClinGen Ensembl |
|
|
CA8629175 rs759316951 |
136 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA400058173 rs1310951750 |
138 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8629177 rs752280058 |
139 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs776630880 CA8629191 |
141 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775146263 CA8629194 |
142 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA400058502 rs1449206310 |
143 | E>K | No |
ClinGen TOPMed |
|
|
rs762554901 CA8629196 |
144 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400058537 rs1315966744 |
144 | G>S | No |
ClinGen gnomAD |
|
|
rs762554901 CA400058567 |
144 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373528454 CA8629198 |
145 | P>R | No |
ClinGen ESP ExAC TOPMed |
|
|
CA400058610 rs1567713750 |
146 | V>M | No |
ClinGen Ensembl |
|
|
CA8629201 rs755412837 |
151 | E>A | No |
ClinGen ExAC gnomAD |
|
|
RCV000188490 rs148597698 CA316550 |
157 | Y>* | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
CA400058957 rs1598199677 |
159 | H>P | No |
ClinGen Ensembl |
|
|
CA400058990 rs1364061949 |
160 | S>F | No |
ClinGen gnomAD |
|
|
CA8629203 rs758599198 |
160 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs146027425 CA8629204 |
161 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8629205 rs770981773 |
161 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8629206 rs745757220 |
163 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA8629207 rs769609928 |
164 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs775306202 CA316559 RCV000188495 |
165 | S>G | No |
ClinGen ClinVar ExAC dbSNP |
|
|
rs1327243684 CA400059123 |
166 | Q>R | No |
ClinGen TOPMed |
|
|
CA8629211 rs761243279 |
169 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA400059263 rs1370405581 |
169 | A>V | No |
ClinGen TOPMed |
|
|
rs754424529 CA8629213 |
172 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA8629214 rs760157998 |
174 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1029497113 CA400059520 |
175 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA291296564 rs1029497113 |
175 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA400059532 rs1567713858 |
176 | S>T | No |
ClinGen Ensembl |
|
|
rs377328326 CA8629217 |
181 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400061158 rs1433875507 |
183 | Y>C | No |
ClinGen TOPMed |
|
|
rs1269439893 CA400061265 |
187 | K>T | No |
ClinGen gnomAD |
|
|
CA291296866 rs1039654112 |
189 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8629240 rs754757019 |
194 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8629242 rs747870171 |
195 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400061430 rs1445550737 |
196 | Q>E | No |
ClinGen gnomAD |
|
|
rs771906435 CA8629243 |
200 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1192912615 RCV000497918 CA400061535 |
200 | V>M | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs772997049 CA8629244 |
202 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs746525939 CA8629245 |
202 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA8629246 rs770512207 |
203 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1245033788 CA400061928 |
208 | G>S | No |
ClinGen TOPMed |
|
|
CA291297080 rs146339491 |
210 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200344643 CA291297095 |
212 | Y>D | No |
ClinGen 1000Genomes |
|
|
CA400062146 rs1344795242 |
213 | P>R | No |
ClinGen gnomAD |
|
|
rs1307726861 CA400062196 |
215 | V>L | No |
ClinGen gnomAD |
|
|
rs1410361749 CA400062244 |
217 | E>K | No |
ClinGen gnomAD |
|
|
CA400062289 rs1309159806 |
218 | F>L | No |
ClinGen gnomAD |
|
|
rs1039438365 CA291297101 |
219 | W>R | No |
ClinGen Ensembl |
|
|
rs1279839198 CA400062353 |
220 | Q>E | No |
ClinGen gnomAD |
|
|
CA400062423 rs1598200536 |
223 | T>P | No |
ClinGen Ensembl |
|
|
CA400062482 rs1598200544 |
224 | N>T | No |
ClinGen Ensembl |
|
|
rs550423482 CA316566 RCV000188499 |
225 | R>L | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA400062558 rs1214665848 |
226 | L>M | No |
ClinGen TOPMed |
|
|
rs199582272 CA8629267 |
227 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs959930110 CA291297175 |
231 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
CA291297192 rs368943864 |
234 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400062838 rs1446089309 |
234 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA291297206 rs1050911927 |
235 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs765226742 CA8629270 |
235 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1299857427 CA400062925 |
237 | P>S | No |
ClinGen gnomAD |
|
|
rs1158768186 CA400062978 |
239 | G>E | No |
ClinGen gnomAD |
|
|
rs1178667430 CA400063009 |
240 | D>Y | No |
ClinGen TOPMed |
|
|
CA400063114 rs1313548105 |
242 | P>R | No |
ClinGen gnomAD |
|
|
CA400063215 rs1244140843 |
244 | G>W | No |
ClinGen gnomAD |
|
|
CA400063277 rs1314776501 |
246 | M>R | No |
ClinGen gnomAD |
|
|
rs1204821498 CA400063302 |
247 | T>S | No |
ClinGen TOPMed |
|
|
CA8629273 rs777671908 |
249 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1260770129 CA400063382 |
249 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA400063404 rs751372839 |
250 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA291297248 rs899168451 |
251 | E>K | No |
ClinGen Ensembl |
|
|
CA400063493 rs1598200757 |
252 | E>G | No |
ClinGen Ensembl |
|
|
CA400063478 rs1555563409 RCV000517632 |
252 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA400063620 rs148784343 |
256 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1034451163 CA291297266 |
257 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA400063642 rs1243294166 |
257 | E>K | No |
ClinGen gnomAD |
|
|
rs1384347604 CA400063852 |
261 | P>S | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q9NVS9
Functions
| Description | ||
|---|---|---|
| EC Number | 1.4.3.5 | With oxygen as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| FMN binding | Binding to flavin mono nucleotide. Flavin mono nucleotide (FMN) is the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| pyridoxal phosphate binding | Binding to pyridoxal 5' phosphate, 3-hydroxy-5-(hydroxymethyl)-2-methyl4-pyridine carboxaldehyde 5' phosphate, the biologically active form of vitamin B6. |
| pyridoxamine-phosphate oxidase activity | Catalysis of the reaction: pyridoxamine 5'-phosphate + H2O + O2 = pyridoxal 5'-phosphate + NH3 + hydrogen peroxide. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| pyridoxal phosphate biosynthetic process | The chemical reactions and pathways resulting in the formation of pyridoxal phosphate, pyridoxal phosphorylated at the hydroxymethyl group of C-5, the active form of vitamin B6. |
| pyridoxine biosynthetic process | The chemical reactions and pathways resulting in the formation of pyridoxine, 2-methyl-3-hydroxy-4,5-bis(hydroxymethyl)pyridine, one of the vitamin B6 compounds. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P38075 | PDX3 | Pyridoxamine 5'-phosphate oxidase | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q5E9K3 | PNPO | Pyridoxine-5'-phosphate oxidase | Bos taurus (Bovine) | PR |
| Q9ZPY1 | PPOX2 | Pyridoxine/pyridoxamine 5'-phosphate oxidase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTCWLRGVTA | TFGRPAEWPG | YLSHLCGRSA | AMDLGPMRKS | YRGDREAFEE | THLTSLDPVK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QFAAWFEEAV | QCPDIGEANA | MCLATCTRDG | KPSARMLLLK | GFGKDGFRFF | TNFESRKGKE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LDSNPFASLV | FYWEPLNRQV | RVEGPVKKLP | EEEAECYFHS | RPKSSQIGAV | VSHQSSVIPD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| REYLRKKNEE | LEQLYQDQEV | PKPKSWGGYV | LYPQVMEFWQ | GQTNRLHDRI | VFRRGLPTGD |
| 250 | 260 | ||||
| SPLGPMTHRG | EEDWLYERLA | P |