Q7Z449
PR
Gene name |
CYP2U1 |
Protein name |
Cytochrome P450 2U1 |
Names |
Long-chain fatty acid omega-monooxygenase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:113612 |
EC number |
1.14.14.80: With reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q7Z449
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q7Z449-F1 | Predicted | AlphaFoldDB |
462 variants for Q7Z449
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs550088634 CA3036954 RCV002298912 RCV001240846 |
2 | S>L | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs371029660 RCV000860834 CA3036955 |
4 | P>S | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA102859654 RCV001341082 rs1031064765 CA357831779 |
43 | V>L | Spastic paraplegia [ClinVar] | Yes |
ClinGen TOPMed gnomAD ClinVar dbSNP |
|
RCV001065832 CA357831926 rs1286338215 |
67 | P>L | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002261350 rs1467659782 RCV001344464 CA357831936 |
69 | V>A | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs768868832 RCV001303163 CA3036966 |
79 | P>A | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3036967 RCV001333700 rs147506864 RCV001848810 RCV000466558 |
103 | P>L | Hereditary spastic paraplegia Hereditary spastic paraplegia 56 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001251105 rs1733002976 |
113 | V>RCSWLT* | Hereditary spastic paraplegia 56 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3036975 rs763896315 RCV000521418 RCV002528284 RCV001858042 |
120 | F>L | Spastic paraplegia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA102859794 rs1048541745 RCV000626113 |
124 | H>Y | Hereditary spastic paraplegia 5A [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA3036988 rs140010604 RCV001327226 |
142 | Q>L | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA357833324 RCV000498760 rs761575210 |
151 | P>L | Hereditary spastic paraplegia 56 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000812260 rs768640920 |
158 | I>missing | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA357833403 RCV001345955 rs1459143146 |
158 | I>L | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA3037020 RCV000232529 rs751459304 |
172 | P>L | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3037022 RCV000809394 RCV001849112 rs374109524 |
173 | V>I | Hereditary spastic paraplegia Variant assessed as Somatic; 0.0 impact. Spastic paraplegia [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA3037029 rs746319505 RCV001847191 RCV001211756 |
186 | R>H | Hereditary spastic paraplegia Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1733648064 RCV001258323 |
202 | E>K | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000822562 rs143913941 CA3037034 RCV000445117 |
210 | M>T | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1370303971 CA357836764 RCV001070231 |
234 | S>F | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1248632205 RCV000991425 |
247 | E>missing | Hereditary spastic paraplegia 56 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397514515 RCV000032699 CA130343 VAR_069575 |
262 | C>R | Hereditary spastic paraplegia 56 SPG56 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs148477072 RCV001079844 RCV002529743 CA3037070 RCV001848994 RCV000762104 |
284 | F>L | Hereditary spastic paraplegia Spastic paraplegia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001245692 rs762698300 |
285 | K>missing | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001057191 rs761095930 CA3037074 |
290 | I>N | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA357837439 rs1578728816 RCV000811051 |
297 | F>S | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000497580 rs1553937522 CA357837573 |
315 | Q>* | Hereditary spastic paraplegia 56 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000442087 VAR_069576 rs397514513 RCV000032696 CA130341 RCV000162142 RCV000162185 |
316 | D>V | Global developmental delay Hereditary spastic paraplegia 56 Spastic paraplegia SPG56 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001298688 rs1733663700 |
317 | F>Y | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs767970725 RCV001847211 CA3037087 RCV001247804 |
327 | E>Q | Hereditary spastic paraplegia Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001087361 rs148983337 RCV001848931 RCV000762105 CA3037093 |
331 | N>S | Hereditary spastic paraplegia Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3037097 rs142944337 RCV000810692 RCV001508157 |
335 | S>T | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000816418 rs1578729121 |
345 | I>missing | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs771350413 RCV000698727 CA3037102 |
345 | I>V | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3037110 RCV000813031 rs141112404 |
369 | S>L | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs61740284 RCV001545871 RCV000861334 CA3037132 |
378 | V>I | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA130342 VAR_069577 rs397514514 RCV000032697 |
380 | E>G | Hereditary spastic paraplegia 56 SPG56 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs759033144 RCV000706230 |
384 | R>missing | Spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3037135 RCV001696939 RCV001848930 RCV000554796 rs142676629 |
384 | R>I | Hereditary spastic paraplegia Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs138968113 RCV000690587 CA3037139 |
388 | A>T | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000681665 CA3037141 RCV002531424 rs772400670 RCV002252212 COSM1671195 |
390 | R>* | Hereditary spastic paraplegia 56 haematopoietic_and_lymphoid_tissue Spastic paraplegia [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002527685 RCV000529478 CA357838351 rs1374309961 |
393 | S>F | Spastic paraplegia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs767024102 RCV001851349 RCV000494446 RCV000184032 RCV001266528 |
404 | E>missing | Hereditary spastic paraplegia 56 Spastic paraplegia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1560702525 CA357838558 RCV000686915 |
407 | I>V | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001071800 rs201629689 RCV002290586 CA3037153 |
418 | P>L | Hereditary spastic paraplegia 56 Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs747965749 RCV001849057 RCV000692719 RCV001391446 RCV001570056 CA3037191 |
459 | P>L | Hereditary spastic paraplegia Hereditary spastic paraplegia 56 Variant assessed as Somatic; 0.0 impact. Spastic paraplegia [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001805035 rs766380148 CA3037195 RCV000415839 |
466 | R>* | Hereditary spastic paraplegia 56 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA3037196 rs143952943 COSM1202871 RCV000794703 RCV001331925 |
466 | R>Q | Hereditary spastic paraplegia 56 large_intestine Spastic paraplegia [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000785945 rs762873672 CA3037213 |
488 | R>Q | Hereditary spastic paraplegia 56 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA130344 rs141431913 RCV002264909 RCV000814689 RCV001847627 RCV000032700 VAR_069578 |
488 | R>W | Hereditary spastic paraplegia Hereditary spastic paraplegia 56 Spastic paraplegia SPG56 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000804518 rs1578736266 CA357839949 |
529 | G>C | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA3037234 RCV000998257 rs772136947 RCV000694074 |
544 | R>* | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs747068538 RCV000514679 |
1 | M>missing | No |
ClinVar dbSNP |
|
|
rs550088634 CA357831372 |
2 | S>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA357831392 rs1408560519 |
4 | P>Q | No |
ClinGen TOPMed |
|
|
CA357831427 rs1465438243 |
7 | S>* | No |
ClinGen TOPMed |
|
|
CA357831441 rs1449420553 |
8 | Q>R | No |
ClinGen gnomAD |
|
|
rs1310484872 CA357831456 |
9 | P>Q | No |
ClinGen gnomAD |
|
|
CA3036956 rs752252347 |
10 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357831475 rs1482495248 |
11 | A>T | No |
ClinGen gnomAD |
|
|
CA102859567 rs996884345 |
12 | E>K | No |
ClinGen TOPMed |
|
|
CA102859578 rs901412995 |
13 | D>A | No |
ClinGen Ensembl |
|
|
CA3036957 rs755814513 |
14 | P>S | No |
ClinGen ExAC |
|
|
rs1186206482 CA357831526 |
15 | P>L | No |
ClinGen TOPMed |
|
|
CA102859600 rs763925185 |
17 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3036958 rs763925185 |
17 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270660885 CA357831560 |
18 | A>T | No |
ClinGen gnomAD |
|
|
CA357831575 rs1244596328 |
19 | R>C | No |
ClinGen TOPMed |
|
|
CA102859609 rs1048634664 |
26 | G>E | No |
ClinGen Ensembl |
|
|
rs1021085084 CA102859616 |
29 | R>L | No |
ClinGen TOPMed |
|
|
CA102859621 rs889995658 |
32 | P>S | No |
ClinGen gnomAD |
|
|
CA357831714 rs889995658 |
32 | P>T | No |
ClinGen gnomAD |
|
|
CA102859624 rs970965477 |
33 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1213198971 CA357831727 |
34 | G>R | No |
ClinGen gnomAD |
|
|
rs1425114390 CA357831736 |
35 | G>A | No |
ClinGen gnomAD |
|
|
CA357831732 rs1369756290 |
35 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA357831741 rs1351893573 |
36 | A>E | No |
ClinGen gnomAD |
|
|
CA357831740 rs1303958804 |
36 | A>T | No |
ClinGen gnomAD |
|
|
rs1363198739 CA357831765 |
40 | C>* | No |
ClinGen gnomAD |
|
|
CA357831760 rs1274337276 |
40 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1363198739 CA357831766 |
40 | C>W | No |
ClinGen gnomAD |
|
| TCGA novel | 40 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1378151264 CA357831771 |
41 | G>A | No |
ClinGen TOPMed |
|
|
CA357831767 rs1216849431 |
41 | G>S | No |
ClinGen gnomAD |
|
|
rs901277054 CA102859641 |
42 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs901277054 CA357831774 |
42 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1386505554 CA357831780 |
43 | V>A | No |
ClinGen TOPMed |
|
|
CA357831778 rs1031064765 |
43 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA357831788 rs1176423724 |
44 | A>V | No |
ClinGen TOPMed |
|
|
CA3036960 rs757245518 |
45 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA357831798 rs1449521264 |
47 | G>S | No |
ClinGen gnomAD |
|
|
CA102859665 rs937661813 |
48 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1238619048 CA357831823 |
50 | W>* | No |
ClinGen TOPMed |
|
|
rs779042395 CA357831837 |
52 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779042395 CA3036961 |
52 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201411336 CA102859684 |
54 | R>H | No |
ClinGen 1000Genomes |
|
|
rs1578706677 CA357831845 |
54 | R>S | No |
ClinGen Ensembl |
|
|
CA357831850 rs1186565891 |
55 | R>G | No |
ClinGen gnomAD |
|
|
CA3036962 rs745929667 |
55 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA357831851 rs1186565891 |
55 | R>W | No |
ClinGen gnomAD |
|
|
rs758365928 CA3036963 |
56 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357831854 rs1445000607 |
56 | A>S | No |
ClinGen gnomAD |
|
|
CA357831858 rs758365928 |
56 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA102859728 rs929055316 |
58 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1414140190 CA357831873 |
59 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1437420137 CA357831884 |
61 | P>S | No |
ClinGen gnomAD |
|
|
rs1162218622 CA357831914 |
66 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
CA102859737 rs775828461 |
70 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs944597665 CA102859739 |
72 | F>C | No |
ClinGen TOPMed |
|
| TCGA novel | 72 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357831960 rs1206341834 |
73 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA357831958 rs1206341834 |
73 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA357832003 rs1156285475 |
77 | L>R | No |
ClinGen TOPMed |
|
|
CA357832011 rs1418776558 |
78 | P>S | No |
ClinGen TOPMed |
|
|
rs1471909138 CA357832036 |
79 | P>L | No |
ClinGen gnomAD |
|
|
CA357832027 rs768868832 |
79 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs900437680 CA357832055 |
80 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1409051157 CA357832063 |
81 | L>F | No |
ClinGen gnomAD |
|
|
rs1458884894 CA357832084 |
82 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1458884894 CA357832080 |
82 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1476927058 CA357832078 |
82 | R>W | No |
ClinGen TOPMed |
|
|
rs1157040020 CA357832097 |
83 | R>L | No |
ClinGen gnomAD |
|
|
rs1388477126 CA357832109 |
84 | R>Q | No |
ClinGen gnomAD |
|
|
rs1470602766 CA357832214 |
89 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs969327084 CA102859748 |
91 | T>I | No |
ClinGen gnomAD |
|
|
CA357832263 rs1215978793 |
92 | R>T | No |
ClinGen TOPMed |
|
|
CA357832257 rs1447828908 |
92 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1354418085 CA357832283 |
93 | A>D | No |
ClinGen TOPMed |
|
|
rs1279759872 CA357832299 |
94 | A>V | No |
ClinGen gnomAD |
|
|
CA102859762 rs373291849 |
95 | G>E | No |
ClinGen Ensembl |
|
|
CA357832321 rs1286154679 |
96 | I>F | No |
ClinGen gnomAD |
|
|
CA357832350 rs1352016068 |
97 | D>E | No |
ClinGen gnomAD |
|
|
rs1344786024 CA357832369 |
98 | P>R | No |
ClinGen TOPMed |
|
|
CA357832364 rs1225967673 |
98 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 99 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 100 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1053725607 CA102859767 |
101 | I>T | No |
ClinGen TOPMed |
|
|
CA357832419 rs1225937320 |
101 | I>V | No |
ClinGen TOPMed |
|
|
rs748573097 CA3036968 |
105 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1182340707 CA357832481 |
106 | L>P | No |
ClinGen gnomAD |
|
|
rs770267485 CA3036969 |
108 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271374579 CA357832542 |
112 | R>L | No |
ClinGen gnomAD |
|
|
CA357832558 rs1400770670 |
113 | V>G | No |
ClinGen gnomAD |
|
|
rs1174811119 CA357832548 CA357832551 |
113 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1174811119 CA357832552 |
113 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA102859781 RCV000579335 rs1021034246 |
114 | Y>* | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA357832573 rs1414253443 |
114 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs766889023 CA3036973 |
115 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3036972 rs766889023 |
115 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357832630 rs1345559958 |
118 | F>L | No |
ClinGen gnomAD |
|
|
CA357832659 rs763896315 |
120 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3036976 rs753662731 |
120 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357832665 rs1272988005 |
120 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3036977 rs757157523 |
121 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357832704 rs1276540394 |
122 | I>F | No |
ClinGen gnomAD |
|
|
rs1199197367 CA357832708 |
122 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA102859798 rs971295974 |
124 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA357832798 rs1271401669 |
125 | Y>C | No |
ClinGen TOPMed |
|
|
rs942947151 CA357832813 |
126 | L>V | No |
ClinGen gnomAD |
|
|
rs1034328850 CA102859839 |
131 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA3036983 rs755182820 |
134 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747178895 CA3036982 |
134 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3036984 rs781445230 |
135 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA357833012 rs1365871792 |
137 | R>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 137 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 138 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748485159 CA3036985 |
138 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3036986 rs770108230 |
139 | A>V | No |
ClinGen ExAC TOPMed |
|
|
CA357833078 rs1578707572 |
141 | V>G | No |
ClinGen Ensembl |
|
|
rs1299787990 CA357833108 |
143 | Q>E | No |
ClinGen gnomAD |
|
|
CA357833165 rs1456736313 |
145 | E>V | No |
ClinGen TOPMed |
|
|
CA357833196 rs1578707612 |
146 | V>G | No |
ClinGen Ensembl |
|
|
CA102859897 rs893894789 |
146 | V>I | No |
ClinGen Ensembl |
|
|
rs774860849 CA3036990 |
147 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1211650516 CA357833309 |
151 | P>A | No |
ClinGen gnomAD |
|
|
CA3036994 rs761575210 |
151 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA357833322 rs761575210 |
151 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA357833336 rs1205880484 |
152 | R>Q | No |
ClinGen TOPMed |
|
|
CA102859929 rs1023463496 |
152 | R>W | No |
ClinGen gnomAD |
|
|
rs1578707710 CA357833350 |
153 | V>G | No |
ClinGen Ensembl |
|
|
rs1309758727 CA357833362 |
154 | P>L | No |
ClinGen TOPMed |
|
|
CA3036996 rs750234190 |
154 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA357833364 rs1185093565 |
155 | L>F | No |
ClinGen gnomAD |
|
|
rs1168420766 CA357833389 |
156 | I>M | No |
ClinGen gnomAD |
|
|
CA3036997 rs762792329 |
156 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1160910421 CA357833416 |
158 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs983198585 CA102859935 |
161 | K>T | No |
ClinGen TOPMed |
|
|
rs1382348931 CA357833478 |
163 | K>T | No |
ClinGen gnomAD |
|
|
rs769554110 CA3037016 |
165 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs369682117 CA3037017 |
168 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762857524 CA3037018 |
168 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357836322 rs1310829853 |
170 | Y>H | No |
ClinGen gnomAD |
|
|
rs1340165968 CA357836331 |
171 | G>C | No |
ClinGen gnomAD |
|
|
CA3037019 rs766196673 |
172 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357836346 rs1180547732 |
174 | W>* | No |
ClinGen gnomAD |
|
|
CA3037023 rs752782576 |
174 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA3037024 rs756288347 |
176 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA102866977 rs200439778 |
177 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA357836375 rs1183645965 |
178 | R>K | No |
ClinGen gnomAD |
|
|
CA357836389 rs1560700801 |
180 | F>L | No |
ClinGen Ensembl |
|
|
CA3037025 rs778117975 |
180 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA102866980 rs1010581109 |
181 | S>C | No |
ClinGen Ensembl |
|
|
rs754117744 CA3037026 |
182 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1342445228 CA357836414 |
184 | T>A | No |
ClinGen gnomAD |
|
|
rs757598063 CA3037027 |
184 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357836420 rs1245046008 |
185 | L>F | No |
ClinGen TOPMed |
|
|
RCV000416152 rs1057519146 |
186 | R>missing | No |
ClinVar dbSNP |
|
|
rs779164469 CA3037028 |
186 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1401706343 CA357836445 |
189 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1401706343 CA357836446 |
189 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA3037032 rs747717076 |
191 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA357836481 rs1227929787 |
194 | S>I | No |
ClinGen gnomAD |
|
|
rs1380971716 CA357836509 |
198 | K>R | No |
ClinGen Ensembl |
|
|
rs1302584434 CA357836519 |
199 | I>M | No |
ClinGen gnomAD |
|
|
rs1328940604 CA357836540 |
202 | E>V | No |
ClinGen TOPMed |
|
|
rs1269494926 CA357836555 |
204 | K>R | No |
ClinGen gnomAD |
|
|
rs769311510 CA3037033 |
210 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA357836620 rs1375147317 |
213 | H>Y | No |
ClinGen TOPMed |
|
|
CA102867072 rs539068584 |
214 | G>* | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs539068584 CA357836627 |
214 | G>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA102867074 rs960344604 |
215 | E>A | No |
ClinGen Ensembl |
|
|
rs774149338 CA3037037 |
216 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 216 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1455388019 CA357836649 |
217 | P>R | No |
ClinGen TOPMed |
|
|
CA357836671 rs1191336855 |
220 | P>L | No |
ClinGen gnomAD |
|
|
COSM3824922 CA102867078 rs972710866 |
222 | S>F | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs759406615 CA3037038 |
223 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3037039 rs139692261 |
224 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775537061 CA3037040 |
227 | A>G | No |
ClinGen ExAC |
|
|
CA3037042 rs149763668 |
228 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757429377 CA3037044 |
229 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA357836738 rs1560700940 |
231 | I>V | No |
ClinGen Ensembl |
|
|
rs750883867 CA3037046 |
235 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3037047 rs758958727 |
238 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA3037048 rs761764079 |
240 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145638445 CA3037049 |
240 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755611981 CA3037050 |
242 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1221586282 CA357836812 |
242 | D>N | No |
ClinGen gnomAD |
|
|
rs1487242665 CA357836828 |
244 | T>A | No |
ClinGen gnomAD |
|
|
rs1560700979 CA357836830 |
244 | T>S | No |
ClinGen Ensembl |
|
|
rs1451096151 CA357836842 |
246 | S>G | No |
ClinGen gnomAD |
|
|
CA357836844 rs748913829 |
246 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs748913829 CA3037052 |
246 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1241705826 CA357836853 |
247 | E>V | No |
ClinGen TOPMed |
|
|
CA3037053 rs200772412 |
250 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA3037054 rs774131003 |
252 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA357836895 rs1298796681 |
253 | G>C | No |
ClinGen TOPMed |
|
|
rs773121382 CA3037056 |
255 | M>G | No |
ClinGen ExAC |
|
|
rs377203075 CA3037057 |
256 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1437641531 CA357836946 |
257 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA3037059 rs760549002 |
257 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000730782 rs1560701036 |
261 | I>* | No |
ClinVar dbSNP |
|
|
rs764172871 CA3037060 |
262 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs776577604 CA3037061 |
266 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA357837059 rs1384252103 |
266 | Q>R | No |
ClinGen TOPMed |
|
|
rs1578728626 CA357837100 |
270 | V>F | No |
ClinGen Ensembl |
|
|
RCV000418645 rs1057524672 CA16604539 |
271 | N>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs369211359 CA3037064 |
272 | I>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs61746386 CA102867240 |
272 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3037063 rs61746386 |
272 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1020678112 CA102867248 |
273 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1020678112 CA357837129 |
273 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs758876011 CA3037065 |
274 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1247212006 CA357837151 |
274 | P>L | No |
ClinGen gnomAD |
|
|
rs766883559 CA3037066 |
275 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1182645623 CA357837212 |
279 | L>F | No |
ClinGen gnomAD |
|
|
rs752056740 CA3037067 |
280 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA3037068 rs755453405 |
281 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA102867268 rs1041397010 |
283 | P>A | No |
ClinGen Ensembl |
|
|
rs1003330304 CA102867283 |
284 | F>L | No |
ClinGen TOPMed |
|
|
rs756893121 CA3037072 |
286 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA357837318 rs1449389473 |
287 | L>F | No |
ClinGen TOPMed |
|
|
rs1285586480 CA357837355 |
290 | I>M | No |
ClinGen gnomAD |
|
|
rs761095930 CA3037073 |
290 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA102867291 rs973278785 |
291 | E>G | No |
ClinGen TOPMed |
|
|
rs1376521590 CA357837368 |
292 | K>Q | No |
ClinGen gnomAD |
|
|
rs1560701170 CA357837388 |
293 | D>G | No |
ClinGen Ensembl |
|
|
rs1253840221 CA357837400 |
294 | I>T | No |
ClinGen TOPMed |
|
|
rs1052060667 CA102867292 |
294 | I>V | No |
ClinGen TOPMed |
|
|
rs1304987599 CA357837454 |
298 | L>P | No |
ClinGen TOPMed |
|
|
CA357837456 rs1560701200 RCV000760620 |
299 | K>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA357837475 rs1331077352 |
300 | K>N | No |
ClinGen gnomAD |
|
|
RCV001268827 rs1288449186 |
301 | I>missing | No |
ClinVar dbSNP |
|
| rs1288449186 | 301 | I>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 301 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3037076 rs779834468 |
305 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA357837522 rs1027540127 |
307 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1027540127 CA102867296 |
307 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs764450466 CA102867297 |
308 | S>C | No |
ClinGen TOPMed |
|
|
CA3037077 rs746892717 |
309 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs373081734 CA3037078 |
310 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200611321 CA102867302 |
310 | D>G | No |
ClinGen 1000Genomes |
|
|
rs761846487 CA3037080 |
312 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs754089373 CA102867313 |
314 | P>A | No |
ClinGen Ensembl |
|
|
CA357837579 rs766970458 |
316 | D>N | No |
ClinGen gnomAD |
|
|
CA102867316 rs766970458 |
316 | D>Y | No |
ClinGen gnomAD |
|
|
CA3037081 rs770107829 |
318 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3037082 rs376043604 |
319 | D>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs561731950 CA3037083 |
320 | M>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3037084 rs370117042 |
322 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA357837629 rs1435554028 |
323 | L>F | No |
ClinGen TOPMed |
|
|
CA3037085 rs751874391 |
324 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs982748781 CA102867328 |
325 | M>K | No |
ClinGen TOPMed |
|
|
CA3037086 rs760088061 |
326 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs767970725 CA357837655 |
327 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3037088 rs753370695 |
328 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs778415352 CA3037090 |
329 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs146484674 CA3037092 |
329 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 331 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768614203 CA3037096 |
335 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA102867360 rs142944337 |
335 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 337 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357837750 rs1252883322 |
340 | E>K | No |
ClinGen gnomAD |
|
|
rs143278890 CA3037099 |
343 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3037100 rs773439167 |
343 | F>S | No |
ClinGen ExAC |
|
|
rs759870253 CA3037104 |
346 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA102867416 rs112526635 |
352 | A>T | No |
ClinGen Ensembl |
|
|
CA357837838 rs1308251686 |
352 | A>V | No |
ClinGen gnomAD |
|
|
rs1218888566 CA357837863 |
356 | T>S | No |
ClinGen Ensembl |
|
|
rs1407381596 CA357837868 |
357 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1331562603 CA357837872 |
358 | T>A | No |
ClinGen gnomAD |
|
|
CA3037108 rs761180975 |
360 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1273048233 CA357837910 |
363 | W>C | No |
ClinGen gnomAD |
|
|
CA357837927 rs1415212239 |
366 | L>Q | No |
ClinGen TOPMed |
|
|
rs1357578897 CA357837939 |
368 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1201639757 CA357837953 |
370 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 371 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749921701 CA102867430 |
372 | P>S | No |
ClinGen gnomAD |
|
|
CA357837973 rs1417830299 |
373 | D>G | No |
ClinGen TOPMed |
|
|
CA3037113 rs751335350 |
373 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357837977 rs1454520801 |
374 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1458933981 CA357838108 |
376 | E>G | No |
ClinGen gnomAD |
|
|
CA102867451 rs1054018173 |
376 | E>Q | No |
ClinGen TOPMed |
|
|
rs754674644 CA357838131 |
377 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA357838125 rs1160960820 |
377 | K>R | No |
ClinGen gnomAD |
|
|
CA357838135 rs61740284 |
378 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA357838176 rs1560702298 |
381 | E>G | No |
ClinGen Ensembl |
|
|
CA357838170 rs1258658062 |
381 | E>K | No |
ClinGen gnomAD |
|
|
rs752607443 CA3037133 |
382 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs537407758 CA102868084 |
382 | I>T | No |
ClinGen Ensembl |
|
|
rs1560702327 CA357838205 |
383 | E>D | No |
ClinGen Ensembl |
|
|
rs1035191390 CA102868088 |
383 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA357838207 rs1381493846 |
384 | R>G | No |
ClinGen gnomAD |
|
|
rs777911110 CA3037136 |
385 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3037137 rs375420146 |
386 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1334725440 CA357838251 |
387 | G>D | No |
ClinGen gnomAD |
|
|
CA357838244 rs1291543104 |
387 | G>S | No |
ClinGen gnomAD |
|
|
COSM3365455 rs1485090175 CA357838287 |
389 | N>S | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs772400670 CA3037142 |
390 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357838308 rs541373555 |
390 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3037144 rs541373555 |
390 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA102868112 rs372979464 |
391 | A>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA102868111 rs372979464 |
391 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA102868116 rs868605672 |
391 | A>V | No |
ClinGen Ensembl |
|
|
CA357838337 rs1412306859 |
392 | P>L | No |
ClinGen TOPMed |
|
|
CA3037146 rs762403327 |
392 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA3037148 rs773918253 |
395 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3037149 rs199831660 |
400 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 401 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3037150 rs149002033 |
402 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357838490 rs149002033 |
402 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1478045688 CA357838530 |
405 | A>T | No |
ClinGen TOPMed |
|
|
rs1354878849 CA357838541 |
405 | A>V | No |
ClinGen gnomAD |
|
|
CA357838583 rs1290682250 |
408 | M>I | No |
ClinGen gnomAD |
|
|
rs756018209 CA3037152 |
408 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA102868163 rs1022327617 |
410 | V>M | No |
ClinGen Ensembl |
|
| TCGA novel | 412 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357838636 rs1256982881 |
413 | L>V | No |
ClinGen gnomAD |
|
|
rs1560702562 CA357838652 |
416 | V>M | No |
ClinGen Ensembl |
|
|
rs1484464094 CA357838658 |
417 | V>M | No |
ClinGen gnomAD |
|
|
CA3037155 rs757219497 |
419 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs778851531 CA3037157 |
420 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778851531 CA3037156 |
420 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3037158 rs376118271 |
421 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357838689 rs1212381039 |
422 | P>L | No |
ClinGen TOPMed |
|
|
rs1176474410 CA357838692 |
423 | H>Y | No |
ClinGen gnomAD |
|
|
CA357838703 rs1272950208 |
424 | M>I | No |
ClinGen TOPMed |
|
|
CA3037160 rs747260582 |
424 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357838741 rs1165795521 |
428 | N>I | No |
ClinGen gnomAD |
|
|
rs191766472 CA102868201 |
430 | V>L | No |
ClinGen 1000Genomes |
|
|
CA3037177 rs758463289 |
431 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1439092894 CA357838927 |
433 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA357838936 rs1230125501 |
434 | Y>C | No |
ClinGen gnomAD |
|
|
CA3037180 rs755199255 |
434 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 434 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370357298 CA102869132 |
436 | I>V | No |
ClinGen ESP TOPMed |
|
|
CA357838971 rs1355105356 |
437 | P>S | No |
ClinGen TOPMed |
|
|
CA3037181 rs781535072 |
440 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs770180255 CA3037183 |
441 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1221749501 CA357839023 |
441 | L>S | No |
ClinGen gnomAD |
|
|
CA357839051 rs1578734861 |
443 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 444 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3037185 rs147100924 |
445 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 447 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1578734907 CA357839095 |
447 | W>L | No |
ClinGen Ensembl |
|
|
rs1451149545 CA357839090 |
447 | W>R | No |
ClinGen gnomAD |
|
|
rs770176863 CA102869148 |
448 | S>L | No |
ClinGen gnomAD |
|
|
CA3037186 rs771661379 |
450 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA357839143 rs1578734926 |
451 | R>T | No |
ClinGen Ensembl |
|
|
rs775157727 CA357839157 |
452 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs775157727 CA3037187 |
452 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA357839169 rs1165593258 |
453 | P>A | No |
ClinGen gnomAD |
|
|
CA3037188 rs760397060 |
453 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs768478670 CA3037189 |
454 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA3037190 rs776264165 |
458 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA102869197 rs773202360 |
461 | D>G | No |
ClinGen Ensembl |
|
|
rs1268043713 CA357839234 |
461 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA3037194 rs762889820 |
465 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755180651 CA357839285 |
469 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs755180651 CA3037197 |
469 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs147277678 CA3037199 |
472 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3037200 rs752976103 |
472 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3037201 rs756465467 |
475 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1216013302 CA357839332 |
476 | K>* | No |
ClinGen TOPMed |
|
| TCGA novel | 478 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA102869259 rs575080160 |
483 | F>S | No |
ClinGen Ensembl |
|
|
CA3037203 rs749748502 |
484 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs778023609 CA3037202 |
484 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA357839402 rs1413431434 |
486 | G>W | No |
ClinGen gnomAD |
|
|
rs762873672 CA3037214 |
488 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357839431 rs1471459317 |
489 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA102869512 rs940928624 |
489 | V>M | No |
ClinGen Ensembl |
|
|
CA357839436 rs1468917268 |
490 | C>Y | No |
ClinGen TOPMed |
|
|
rs1429589893 CA357839446 |
491 | M>I | No |
ClinGen TOPMed |
|
|
CA357839445 rs774394422 |
491 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA3037215 rs774394422 |
491 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA357839463 rs1407688689 |
494 | Q>K | No |
ClinGen gnomAD |
|
|
CA102869517 rs1036607521 |
494 | Q>R | No |
ClinGen gnomAD |
|
|
rs752917310 CA3037218 |
498 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs368543204 CA3037217 |
498 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357839496 rs1578736081 |
499 | E>* | No |
ClinGen Ensembl |
|
|
rs1476564989 CA357839513 |
501 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 502 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3037220 rs764456836 |
503 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA3037219 rs756308496 |
503 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA102869547 rs995234654 |
507 | L>V | No |
ClinGen Ensembl |
|
|
CA3037221 rs754308246 |
508 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357839561 rs1345441522 |
508 | M>T | No |
ClinGen gnomAD |
|
|
CA102869548 rs1028966851 |
509 | Q>K | No |
ClinGen Ensembl |
|
|
CA357839567 rs1578736156 |
509 | Q>P | No |
ClinGen Ensembl |
|
|
CA357839592 rs1282656972 |
510 | S>N | No |
ClinGen gnomAD |
|
|
CA3037223 rs150818323 |
512 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1439683016 CA357839645 |
514 | A>P | No |
ClinGen gnomAD |
|
|
CA357839676 rs1324490576 |
516 | P>H | No |
ClinGen TOPMed |
|
|
CA3037225 rs754487808 |
516 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1478520320 CA357839699 |
518 | D>G | No |
ClinGen gnomAD |
|
|
CA3037227 rs747768954 |
522 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA357839814 rs1433752071 |
523 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 528 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3037230 rs749132333 |
530 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA357840053 rs1296434816 |
534 | P>S | No |
ClinGen TOPMed |
|
|
rs1442759515 CA357840176 |
539 | I>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3037232 rs144144031 |
539 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357840209 rs1301011126 |
540 | T>I | No |
ClinGen gnomAD |
|
|
CA357840213 rs1484717580 |
541 | I>V | No |
ClinGen gnomAD |
|
|
CA357840236 rs1188396118 |
542 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA3037233 rs759494725 |
542 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1233810244 CA357840244 |
543 | R>K | No |
ClinGen gnomAD |
|
|
rs576923939 CA102869636 |
544 | R>I | No |
ClinGen ExAC TOPMed |
|
|
CA3037235 rs576923939 |
544 | R>K | No |
ClinGen ExAC TOPMed |
|
|
rs1194152680 CA357840279 |
545 | R>C | No |
ClinGen gnomAD |
|
|
CA102869642 rs977349364 |
545 | R>R | No |
ClinGen Ensembl |
1 associated diseases with Q7Z449
[MIM: 615030]: Spastic paraplegia 56, autosomal recessive, with or without pseudoxanthoma elasticum (SPG56)
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. In SPG56, upper limbs are often also affected. Some SPG56 patients may have a subclinical axonal neuropathy; others also have pseudoxanthoma elasticum. {ECO:0000269|PubMed:23176821}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. In SPG56, upper limbs are often also affected. Some SPG56 patients may have a subclinical axonal neuropathy; others also have pseudoxanthoma elasticum. {ECO:0000269|PubMed:23176821}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q7Z449
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Cytochrome P450, conserved site | 483 - 492 | IPR017972 |
Functions
| Description | ||
|---|---|---|
| EC Number | 1.14.14.80 | With reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| 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. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| arachidonic acid omega-hydroxylase activity | Catalysis of the reaction: arachidonic acid + O2 + NADPH + H+ = 20-HETE + NADP+ + H2O. Arachidonic acid is also known as (5Z,8Z,11Z,14Z)-icosatetraenoic acid, and 20-HETE is also known as (5Z,8Z,11Z,14Z)-20-hydroxyicosa-5,8,11,14-tetraenoic acid. |
| heme binding | Binding to a heme, a compound composed of iron complexed in a porphyrin (tetrapyrrole) ring. |
| iron ion binding | Binding to an iron (Fe) ion. |
| long-chain fatty acid omega-hydroxylase activity | Catalysis of the reaction: an omega-methyl-long-chain fatty acid + O2 + reduced = an omega-hydroxy-long-chain fatty acid + H(+) + H2O + oxidized |
| monooxygenase activity | Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water. |
| oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen | Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from reduced flavin or flavoprotein and one other donor, and one atom of oxygen is incorporated into one donor. |
| steroid hydroxylase activity | Catalysis of the formation of a hydroxyl group on a steroid by incorporation of oxygen from O2. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| omega-hydroxylase P450 pathway | The chemical reactions and pathways by which arachidonic acid is converted to other compounds initially by omega-hydroxylation. |
| organic acid metabolic process | The chemical reactions and pathways involving organic acids, any acidic compound containing carbon in covalent linkage. |
| xenobiotic metabolic process | The chemical reactions and pathways involving a xenobiotic compound, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
52 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O18963 | CYP2E1 | Cytochrome P450 2E1 | Bos taurus (Bovine) | PR |
| Q0IIF9 | CYP2U1 | Cytochrome P450 2U1 | Bos taurus (Bovine) | PR |
| P12394 | CYP17A1 | Steroid 17-alpha-hydroxylase/17,20 lyase | Gallus gallus (Chicken) | PR |
| Q95078 | Cyp18a1 | Cytochrome P450 18a1 | Drosophila melanogaster (Fruit fly) | PR |
| P05177 | CYP1A2 | Cytochrome P450 1A2 | Homo sapiens (Human) | PR |
| P05093 | CYP17A1 | Steroid 17-alpha-hydroxylase/17,20 lyase | Homo sapiens (Human) | PR |
| P10632 | CYP2C8 | Cytochrome P450 2C8 | Homo sapiens (Human) | PR |
| P33260 | CYP2C18 | Cytochrome P450 2C18 | Homo sapiens (Human) | PR |
| P05181 | CYP2E1 | Cytochrome P450 2E1 | Homo sapiens (Human) | PR |
| P51589 | CYP2J2 | Cytochrome P450 2J2 | Homo sapiens (Human) | PR |
| Q9D816 | Cyp2c55 | Cytochrome P450 2C55 | Mus musculus (Mouse) | PR |
| P27786 | Cyp17a1 | Steroid 17-alpha-hydroxylase/17,20 lyase | Mus musculus (Mouse) | PR |
| O54749 | Cyp2j5 | Cytochrome P450 2J5 | Mus musculus (Mouse) | PR |
| O54750 | Cyp2j6 | Cytochrome P450 2J6 | Mus musculus (Mouse) | PR |
| P24456 | Cyp2d10 | Cytochrome P450 2D10 | Mus musculus (Mouse) | PR |
| P24457 | Cyp2d11 | Cytochrome P450 2D11 | Mus musculus (Mouse) | PR |
| Q9CX98 | Cyp2u1 | Cytochrome P450 2U1 | Mus musculus (Mouse) | PR |
| P79383 | CYP2E1 | Cytochrome P450 2E1 | Sus scrofa (Pig) | PR |
| P33273 | Cyp2c55 | Cytochrome P450 2C55 | Rattus norvegicus (Rat) | PR |
| P05182 | Cyp2e1 | Cytochrome P450 2E1 | Rattus norvegicus (Rat) | PR |
| P24470 | Cyp2c23 | Cytochrome P450 2C23 | Rattus norvegicus (Rat) | PR |
| P11715 | Cyp17a1 | Steroid 17-alpha-hydroxylase/17,20 lyase | Rattus norvegicus (Rat) | PR |
| P12939 | Cyp2d10 | Cytochrome P450 2D10 | Rattus norvegicus (Rat) | PR |
| P10633 | Cyp2d1 | Cytochrome P450 2D1 | Rattus norvegicus (Rat) | PR |
| P05179 | Cyp2c7 | Cytochrome P450 2C7 | Rattus norvegicus (Rat) | PR |
| P12938 | Cyp2d3 | Cytochrome P450 2D3 | Rattus norvegicus (Rat) | PR |
| O35293 | Cyp2f2 | Cytochrome P450 2F2 | Rattus norvegicus (Rat) | PR |
| P20814 | Cyp2c13 | Cytochrome P450 2C13, male-specific | Rattus norvegicus (Rat) | PR |
| Q8HYM9 | CYP17A1 | Steroid 17-alpha-hydroxylase/17,20 lyase | Macaca mulatta (Rhesus macaque) | PR |
| Q6YV88 | CYP71Z7 | Ent-cassadiene hydroxylase | Oryza sativa subsp japonica (Rice) | PR |
| A3A871 | CYP71Z6 | Ent-isokaurene C2/C3-hydroxylase | Oryza sativa subsp japonica (Rice) | PR |
| Q7X7X4 | CYP99A2 | Cytochrome P450 99A2 | Oryza sativa subsp japonica (Rice) | PR |
| O48957 | CYP99A1 | Cytochrome P450 CYP99A1 | Sorghum bicolor (Sorghum) (Sorghum vulgare) | PR |
| Q42797 | CYP73A11 | Trans-cinnamate 4-monooxygenase | Glycine max (Soybean) (Glycine hispida) | PR |
| Q9XHC6 | CYP93E1 | Beta-amyrin 24-hydroxylase | Glycine max (Soybean) (Glycine hispida) | PR |
| O81971 | CYP71D9 | Cytochrome P450 71D9 | Glycine max (Soybean) (Glycine hispida) | PR |
| O48922 | CYP98A2 | Cytochrome P450 98A2 | Glycine max (Soybean) (Glycine hispida) | PR |
| O49340 | CYP71A12 | Cytochrome P450 71A12 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O64638 | CYP76C3 | Cytochrome P450 76C3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P58049 | CYP71B11 | Cytochrome P450 71B11 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P58050 | CYP71B13 | Cytochrome P450 71B13 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q96514 | CYP71B7 | Cytochrome P450 71B7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9CA61 | CYP98A8 | Cytochrome P450 98A8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LTM0 | CYP71B23 | Cytochrome P450 71B23 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LTM6 | CYP71B17 | Cytochrome P450 71B17 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LTM7 | CYP71B16 | Cytochrome P450 71B16 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LVD2 | CYP71B10 | Cytochrome P450 71B10 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SAE4 | CYP71B29 | Cytochrome P450 71B29 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SRQ1 | CYP89A9 | Cytochrome P450 89A9 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZU07 | CYP71B12 | Cytochrome P450 71B12 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O64636 | CYP76C1 | Cytochrome P450 76C1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q949U1 | CYP79F1 | Dihomomethionine N-hydroxylase | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSSPGPSQPP | AEDPPWPARL | LRAPLGLLRL | DPSGGALLLC | GLVALLGWSW | LRRRRARGIP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PGPTPWPLVG | NFGHVLLPPF | LRRRSWLSSR | TRAAGIDPSV | IGPQVLLAHL | ARVYGSIFSF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FIGHYLVVVL | SDFHSVREAL | VQQAEVFSDR | PRVPLISIVT | KEKGVVFAHY | GPVWRQQRKF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SHSTLRHFGL | GKLSLEPKII | EEFKYVKAEM | QKHGEDPFCP | FSIISNAVSN | IICSLCFGQR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FDYTNSEFKK | MLGFMSRGLE | ICLNSQVLLV | NICPWLYYLP | FGPFKELRQI | EKDITSFLKK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IIKDHQESLD | RENPQDFIDM | YLLHMEEERK | NNSNSSFDEE | YLFYIIGDLF | IAGTDTTTNS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LLWCLLYMSL | NPDVQEKVHE | EIERVIGANR | APSLTDKAQM | PYTEATIMEV | QRLTVVVPLA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IPHMTSENTV | LQGYTIPKGT | LILPNLWSVH | RDPAIWEKPE | DFYPNRFLDD | QGQLIKKETF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| IPFGIGKRVC | MGEQLAKMEL | FLMFVSLMQS | FAFALPEDSK | KPLLTGRFGL | TLAPHPFNIT |
| ISRR |