PDB ID 1FVO CHAIN A
Protein name ORNITHINE TRANSCARBAMYLASE
Uniprot Accession P00480
The number of similar proteins 5
The number of binding states 1
The number of binding partners 1
Coloring
Unicolor (beige)
The number of binding partners
Group

Binding
state
Binding partners
1FVO (CHAIN: A)
1 P00480   P00480  
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Molecule viewer
#binding
partners
  1
  0
Sequence information
1   KVQLKGRDLL   TLKNFTGEEI   KYMLWLSADL   KFRIKQKGEY   LPLLQGKSLG   50
51   MIFEKRSTRT   RLSTETGFAL   LGGHPCFLTT   QDIHLGVNES   LTDTARVLSS   100
101   MADAVLARVY   KQSDLDTLAK   EASIPIINGL   SDLYHPIQIL   ADYLTLQEHY   150
151   SSLKGLTLSW   IGDGNNILHS   IMMSAAKFGM   HLQAATPKGY   EPDASVTKLA   200
201   EQYAKENGTK   LLLTNDPLEA   AHGGNVLITD   TWISMGREEE   KKKRLQAFQG   250
251   YQVTMKTAKV   AASDWTFLHC   LPRKPEEVDD   EVFYSPRSLV   FPEAENRKWT   300
301   IMAVMVSLLT   DYSPQLQKPK   F       350
Variants
Residue AA Source dbSNP Clinical
Significance
Disease name
36_GLN TER ClinVar
chrX:38226572
rs72554305 Pathogenic not provided [MedGen:CN517202]
39_GLY CYS ClinVar
chrX:38226581
rs72554306 Pathogenic not provided [MedGen:CN517202]
40_ARG CYS ClinVar
chrX:38226584
rs72554307 Likely pathogenic Ornithine carbamoyltransferase deficiency [MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008]; not provided [MedGen:CN517202]
40_ARG HIS ClinVar
chrX:38226585
rs72554308 Pathogenic Ornithine carbamoyltransferase deficiency [MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008]; not provided [MedGen:CN517202]
41_ASP GLY ClinVar
chrX:38226588
rs74518351 Pathogenic not provided [MedGen:CN517202]
43_LEU PHE ClinVar
chrX:38226593
rs72554309 Pathogenic not provided [MedGen:CN517202]
44_THR ILE ClinVar
chrX:38226597
rs72554310 Pathogenic not provided [MedGen:CN517202]
45_LEU PRO ClinVar
chrX:38226600
rs72554312 Pathogenic Ornithine carbamoyltransferase deficiency [MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008]; not provided [MedGen:CN517202]
45_LEU VAL ClinVar
chrX:38226599
rs72554311 Pathogenic not provided [MedGen:CN517202]
46_LYS ARG VAR_004851 rs1800321 Polymorphism -
47_ASN ILE ClinVar
chrX:38226606
rs67939655 Pathogenic not provided [MedGen:CN517202]
48_PHE SER ClinVar
chrX:38226609
rs72554315 Pathogenic not provided [MedGen:CN517202]
49_THR PRO ClinVar
chrX:38226611
rs72554316 Pathogenic not provided [MedGen:CN517202]
50_GLY TER ClinVar
chrX:38226614
rs67486158 Pathogenic Ornithine carbamoyltransferase deficiency [MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008]; not provided [MedGen:CN517202]
50_GLY ARG ClinVar
chrX:38226614
rs67486158 Pathogenic not provided [MedGen:CN517202]
52_GLU LYS ClinVar
chrX:38226620
rs66521141 Pathogenic not provided [MedGen:CN517202]
52_GLU TER ClinVar
chrX:38226620
rs66521141 Pathogenic not provided [MedGen:CN517202]
52_GLU GLY ClinVar
chrX:38226621
rs72554317 Pathogenic not provided [MedGen:CN517202]
52_GLU ASP ClinVar
chrX:38226622
rs72554318 Pathogenic not provided [MedGen:CN517202]
53_ILE THR ClinVar
chrX:38226624
rs66677059 Pathogenic not provided [MedGen:CN517202]
53_ILE SER ClinVar
chrX:38226624
rs66677059 Pathogenic not provided [MedGen:CN517202]
55_TYR ASP ClinVar
chrX:38226629
rs72554319 Pathogenic not provided [MedGen:CN517202]
56_MET THR ClinVar
chrX:38226633
rs72554320 Likely pathogenic not provided [MedGen:CN517202]; not specified [MedGen:CN169374]
57_LEU GLN ClinVar
chrX:38226636
rs72554321 Pathogenic not provided [MedGen:CN517202]
58_TRP TER ClinVar
chrX:38226640
rs72554322 Pathogenic not provided [MedGen:CN517202]
60_SER LEU ClinVar
chrX:38226645
rs72554323 Pathogenic not provided [MedGen:CN517202]
63_LEU PRO ClinVar
chrX:38226654
rs72554324 Pathogenic not provided [MedGen:CN517202]
67_ILE ARG ClinVar
chrX:38226666
rs72554325 Pathogenic not provided [MedGen:CN517202]
69_GLN TER ClinVar
chrX:38226671
rs72554326 Pathogenic not provided [MedGen:CN517202]
76_LEU SER ClinVar
chrX:38229059
rs72554328 Pathogenic not provided [MedGen:CN517202]
76_LEU PHE ClinVar
chrX:38229060
rs1555972495 Likely pathogenic not provided [MedGen:CN517202]
77_LEU PHE ClinVar
chrX:38229063
rs72554329 Pathogenic not provided [MedGen:CN517202]
78_GLN TER ClinVar
chrX:38229064
rs72554330 Pathogenic not provided [MedGen:CN517202]
79_GLY GLU ClinVar
chrX:38229068
rs72554331 Pathogenic Ornithine carbamoyltransferase deficiency [MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008]; not provided [MedGen:CN517202]
80_LYS GLU ClinVar
chrX:38229070
rs72554332 Pathogenic Ornithine carbamoyltransferase deficiency [MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008]; not provided [MedGen:CN517202]
80_LYS ASN ClinVar
chrX:38229072
rs72554333 Pathogenic not provided [MedGen:CN517202]
82_LEU TER ClinVar
chrX:38229077
rs72554335 Pathogenic not provided [MedGen:CN517202]
83_GLY ARG ClinVar
chrX:38229079
rs72554336 Pathogenic not provided [MedGen:CN517202]
83_GLY ASP ClinVar
chrX:38229080
rs72554337 Pathogenic not provided [MedGen:CN517202]
85_ILE THR ClinVar
chrX:38229086
rs878853245 Likely pathogenic Ornithine carbamoyltransferase deficiency [MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008]
87_GLU LYS ClinVar
chrX:38229091
rs72554338 Pathogenic Ornithine carbamoyltransferase deficiency [MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008]; not provided [MedGen:CN517202]
88_LYS ASN ClinVar
chrX:38229096
rs72554339 Pathogenic not provided [MedGen:CN517202]
90_SER GLY ClinVar
chrX:38229100
rs72554340 Pathogenic not provided [MedGen:CN517202]
90_SER ASN ClinVar
chrX:38229101
rs72554341 Pathogenic not provided [MedGen:CN517202]
90_SER ARG ClinVar
chrX:38229102
rs72554342 Pathogenic not provided [MedGen:CN517202]
92_ARG GLY ClinVar
chrX:38229106
rs67418243 Pathogenic not provided [MedGen:CN517202]
92_ARG TER ClinVar
chrX:38229106
rs67418243 Pathogenic not provided [MedGen:CN517202]
92_ARG GLN ClinVar
chrX:38229107
rs66550389 Pathogenic not provided [MedGen:CN517202]
92_ARG PRO ClinVar
chrX:38229107
rs66550389 Pathogenic not provided [MedGen:CN517202]
92_ARG LEU ClinVar
chrX:38229107
rs66550389 Pathogenic not provided [MedGen:CN517202]
93_THR ALA ClinVar
chrX:38229109
rs72554344 Pathogenic not provided [MedGen:CN517202]
94_ARG THR ClinVar
chrX:38229113
rs72554345 Pathogenic Ornithine carbamoyltransferase deficiency [MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008]; not provided [MedGen:CN517202]
95_LEU SER ClinVar
chrX:38229116
rs72554346 Pathogenic not provided [MedGen:CN517202]
100_GLY ASP ClinVar
chrX:38240595
rs72554349 Pathogenic not provided [MedGen:CN517202]
101_PHE LEU VAR_004869 rs1133135 Polymorphism -
102_ALA GLU ClinVar
chrX:38240601
rs72554350 Pathogenic not provided [MedGen:CN517202]
105_GLY VAL ClinVar
chrX:38240610
rs72554351 Pathogenic not provided [MedGen:CN517202]
106_GLY ARG ClinVar
chrX:38240612
rs72554352 Pathogenic not provided [MedGen:CN517202]
106_GLY GLU ClinVar
chrX:38240613
rs67651903 Pathogenic not provided [MedGen:CN517202]
106_GLY VAL ClinVar
chrX:38240613
rs67651903 Pathogenic not provided [MedGen:CN517202]
111_LEU PRO ClinVar
chrX:38240628
rs1800324 Pathogenic Ornithine carbamoyltransferase deficiency [MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008]
117_HIS ARG ClinVar
chrX:38240646
rs66539573 Pathogenic not provided [MedGen:CN517202]
117_HIS LEU ClinVar
chrX:38240646
rs66539573 Pathogenic not provided [MedGen:CN517202]
122_GLU GLY ClinVar
chrX:38240661
rs1131691517 Likely pathogenic not provided [MedGen:CN517202]
125_THR MET VAR_004874 rs72554356 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
126_ASP GLY ClinVar
chrX:38240673
rs72554358 Pathogenic not provided [MedGen:CN517202]
129_ARG HIS ClinVar
chrX:38240682
rs66656800 Pathogenic Ornithine carbamoyltransferase deficiency [MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008]; not provided [MedGen:CN517202]
129_ARG PRO ClinVar
chrX:38240682
rs66656800 Pathogenic not provided [MedGen:CN517202]
129_ARG LEU ClinVar
chrX:38240682
rs66656800 Pathogenic not provided [MedGen:CN517202]
131_LEU SER ClinVar
chrX:38260533
rs72556252 Pathogenic not provided [MedGen:CN517202]
132_SER PRO ClinVar
chrX:38260535
rs72556253 Pathogenic not provided [MedGen:CN517202]
132_SER PHE ClinVar
chrX:38260536
rs72556254 Pathogenic not provided [MedGen:CN517202]
135_ALA GLU ClinVar
chrX:38260545
rs72556256 Pathogenic not provided [MedGen:CN517202]
136_ASP VAL ClinVar
chrX:38260548
rs72556257 Pathogenic not provided [MedGen:CN517202]
137_ALA THR ClinVar
chrX:38260550
rs72556258 Pathogenic not provided [MedGen:CN517202]
139_LEU SER ClinVar
chrX:38260557
rs72556259 Pathogenic not provided [MedGen:CN517202]
140_ALA PRO ClinVar
chrX:38260559
rs72556260 Likely pathogenic Ornithine carbamoyltransferase deficiency [MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008]; not provided [MedGen:CN517202]
141_ARG GLN ClinVar
chrX:38260563
rs68026851 Pathogenic Ornithine carbamoyltransferase deficiency [MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008]; not provided [MedGen:CN517202]
141_ARG TER ClinVar
chrX:38260562
rs67960011 Pathogenic Ornithine carbamoyltransferase deficiency [MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008]; not provided [MedGen:CN517202]
141_ARG GLY ClinVar
chrX:38260562
rs67960011 Pathogenic not provided [MedGen:CN517202]
141_ARG PRO ClinVar
chrX:38260563
rs68026851 Pathogenic not provided [MedGen:CN517202]
142_VAL GLU ClinVar
chrX:38260566
rs72556261 Pathogenic not provided [MedGen:CN517202]
144_LYS TER ClinVar
chrX:38260571
rs72556262 Pathogenic not provided [MedGen:CN517202]
146_SER TER ClinVar
chrX:38260578
rs72556263 Pathogenic not provided [MedGen:CN517202]
148_LEU PHE ClinVar
chrX:38260585
rs66741318 Pathogenic Ornithine carbamoyltransferase deficiency [MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008]; not provided [MedGen:CN517202]
148_LEU SER ClinVar
chrX:38260584
rs67016166 Pathogenic not provided [MedGen:CN517202]
148_LEU TRP ClinVar
chrX:38260584
rs67016166 Pathogenic not provided [MedGen:CN517202]
148_LEU PHE ClinVar
chrX:38260585
rs66741318 Pathogenic not provided [MedGen:CN517202]
151_LEU ARG ClinVar
chrX:38260593
rs72556265 Pathogenic not provided [MedGen:CN517202]
152_ALA VAL ClinVar
chrX:38260596
rs72556266 Pathogenic not provided [MedGen:CN517202]
154_GLU TER ClinVar
chrX:38260601
rs72556267 Pathogenic Ornithine carbamoyltransferase deficiency [MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008]; not provided [MedGen:CN517202]
155_ALA PRO ClinVar
chrX:38260604
rs67890094 Pathogenic not provided [MedGen:CN517202]
155_ALA SER ClinVar
chrX:38260604
rs67890094 Pathogenic not provided [MedGen:CN517202]
155_ALA GLU ClinVar
chrX:38260605
rs72556268 Pathogenic not provided [MedGen:CN517202]
159_ILE THR ClinVar
chrX:38260617
rs72556269 Pathogenic not provided [MedGen:CN517202]
160_ILE ASN ClinVar
chrX:38260620
rs67954347 Pathogenic not provided [MedGen:CN517202]
160_ILE THR ClinVar
chrX:38260620
rs67954347 Pathogenic not provided [MedGen:CN517202]
160_ILE SER ClinVar
chrX:38260620
rs67954347 Pathogenic not provided [MedGen:CN517202]
161_ASN ASP ClinVar
chrX:38260622
rs72556270 Pathogenic not provided [MedGen:CN517202]
161_ASN SER ClinVar
chrX:38260623
rs72556271 Pathogenic not provided [MedGen:CN517202]
162_GLY ARG ClinVar
chrX:38260625
rs66626662 Pathogenic Ornithine carbamoyltransferase deficiency [MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008]; not provided [MedGen:CN517202]
162_GLY ARG ClinVar
chrX:38260625
rs66626662 Pathogenic not provided [MedGen:CN517202]
162_GLY GLU ClinVar
chrX:38260626
rs72556272 Pathogenic not provided [MedGen:CN517202]
164_SER PRO ClinVar
chrX:38260631
rs72556273 Pathogenic not provided [MedGen:CN517202]
164_SER TER ClinVar
chrX:38260632
rs72556274 Pathogenic not provided [MedGen:CN517202]
165_ASP TYR ClinVar
chrX:38260634
rs72556275 Pathogenic not provided [MedGen:CN517202]
165_ASP GLY ClinVar
chrX:38260635
rs1555975685 Likely pathogenic not provided [MedGen:CN517202]
167_TYR TER ClinVar
chrX:38260642
rs66564822 Pathogenic not provided [MedGen:CN517202]
167_TYR TER ClinVar
chrX:38260642
rs66564822 Pathogenic not provided [MedGen:CN517202]
168_HIS PRO ClinVar
chrX:38260644
rs66867430 Pathogenic not provided [MedGen:CN517202]
168_HIS ARG ClinVar
chrX:38260644
rs66867430 Pathogenic not provided [MedGen:CN517202]
168_HIS GLN ClinVar
chrX:38260645
rs72556276 Pathogenic not provided [MedGen:CN517202]
169_PRO ALA ClinVar
chrX:38260646
rs72556277 Pathogenic not provided [MedGen:CN517202]
169_PRO LEU ClinVar
chrX:38260647
rs72556278 Pathogenic not provided [MedGen:CN517202]
172_ILE PHE ClinVar
chrX:38260655
rs72556279 Pathogenic not provided [MedGen:CN517202]
172_ILE MET ClinVar
chrX:38260657
rs72556280 Pathogenic not provided [MedGen:CN517202]
173_LEU VAL ClinVar
chrX:38260658
rs1131692152 Pathogenic Ornithine carbamoyltransferase deficiency [MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008]
174_ALA PRO ClinVar
chrX:38260661
rs72556281 Pathogenic not provided [MedGen:CN517202]
175_ASP GLY ClinVar
chrX:38260665
rs68033093 Pathogenic not provided [MedGen:CN517202]
175_ASP VAL ClinVar
chrX:38260665
rs68033093 Pathogenic not provided [MedGen:CN517202]
176_TYR HIS ClinVar
chrX:38260667
rs72556282 Pathogenic not provided [MedGen:CN517202]
176_TYR CYS ClinVar
chrX:38260668
rs72556283 Pathogenic not provided [MedGen:CN517202]
178_THR MET ClinVar
chrX:38260674
rs72556284 Pathogenic not provided [MedGen:CN517202]
179_LEU PRO ClinVar
chrX:38260677
rs72556286 Pathogenic not provided [MedGen:CN517202]
180_GLN HIS ClinVar
chrX:38260681
rs72556287 Pathogenic not provided [MedGen:CN517202]
181_GLU GLY ClinVar
chrX:38262872
rs72556290 Pathogenic not provided [MedGen:CN517202]
182_HIS LEU ClinVar
chrX:38262875
rs72556291 Pathogenic not provided [MedGen:CN517202]
183_TYR ASP ClinVar
chrX:38262877
rs72556292 Pathogenic not provided [MedGen:CN517202]
183_TYR CYS ClinVar
chrX:38262878
rs72556293 Pathogenic not provided [MedGen:CN517202]
188_GLY ARG ClinVar
chrX:38262892
rs72556294 Pathogenic not provided [MedGen:CN517202]
188_GLY VAL ClinVar
chrX:38262893
rs72556295 Pathogenic not provided [MedGen:CN517202]
191_LEU PHE ClinVar
chrX:38262901
rs72556296 Pathogenic not provided [MedGen:CN517202]
192_SER ARG ClinVar
chrX:38262906
rs72556298 Pathogenic not provided [MedGen:CN517202]
193_TRP ARG ClinVar
chrX:38262907
rs67284661 Pathogenic not provided [MedGen:CN517202]
193_TRP GLY ClinVar
chrX:38262907
rs67284661 Pathogenic not provided [MedGen:CN517202]
193_TRP TER ClinVar
chrX:38262908
rs72556299 Pathogenic not provided [MedGen:CN517202]
195_GLY ARG ClinVar
chrX:38262913
rs67294955 Pathogenic not provided [MedGen:CN517202]
196_ASP ASN ClinVar
chrX:38262916
rs66642398 Pathogenic not provided [MedGen:CN517202]
196_ASP TYR ClinVar
chrX:38262916
rs66642398 Pathogenic not provided [MedGen:CN517202]
196_ASP VAL ClinVar
chrX:38262917
rs72556300 Pathogenic not provided [MedGen:CN517202]
197_GLY ARG ClinVar
chrX:38262919
rs72556301 Pathogenic not provided [MedGen:CN517202]
197_GLY GLU ClinVar
chrX:38262920
rs72556302 Pathogenic not provided [MedGen:CN517202]
198_ASN ILE ClinVar
chrX:38262923
rs72558403 Pathogenic not provided [MedGen:CN517202]
198_ASN LYS ClinVar
chrX:38262924
rs72558404 Pathogenic not provided [MedGen:CN517202]
199_ASN ASP ClinVar
chrX:38262925
rs72558405 Pathogenic not provided [MedGen:CN517202]
199_ASN SER ClinVar
chrX:38262926
rs72558406 Likely pathogenic not provided [MedGen:CN517202]
201_LEU PRO ClinVar
chrX:38262932
rs72558407 Pathogenic not provided [MedGen:CN517202]
202_HIS TYR ClinVar
chrX:38262934
rs72558408 Pathogenic not provided [MedGen:CN517202]
202_HIS PRO ClinVar
chrX:38262935
rs72558409 Pathogenic not provided [MedGen:CN517202]
203_SER CYS ClinVar
chrX:38262938
rs72558410 Pathogenic not provided [MedGen:CN517202]
205_MET VAL ClinVar
chrX:38262943
rs72558411 Likely pathogenic Ornithine carbamoyltransferase deficiency [MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008]; not provided [MedGen:CN517202]
205_MET ILE ClinVar
chrX:38262945
rs796052012 Pathogenic not provided [MedGen:CN517202]
206_MET ARG ClinVar
chrX:38262947
rs72558412 Pathogenic Ornithine carbamoyltransferase deficiency [MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008]; not provided [MedGen:CN517202]
206_MET ILE ClinVar
chrX:38262948
rs72558413 Pathogenic not provided [MedGen:CN517202]
207_SER ASN ClinVar
chrX:38262950
rs72558414 Pathogenic not provided [MedGen:CN517202]
207_SER ARG ClinVar
chrX:38262951
rs72558415 Pathogenic not provided [MedGen:CN517202]
208_ALA THR ClinVar
chrX:38262952
rs72558416 Pathogenic not provided [MedGen:CN517202]
209_ALA VAL ClinVar
chrX:38262956
rs72558417 Pathogenic Ornithine carbamoyltransferase deficiency [MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008]; not provided [MedGen:CN517202]
210_LYS GLN ClinVar
chrX:38262958
rs72558418 Pathogenic not provided [MedGen:CN517202]
212_GLY TER ClinVar
chrX:38262964
rs772049322 Pathogenic not provided [MedGen:CN517202]
213_MET LYS VAR_004910 - Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
214_HIS TYR ClinVar
chrX:38262970
rs72558420 Pathogenic not provided [MedGen:CN517202]
215_LEU PHE ClinVar
chrX:38262973
rs72558421 Pathogenic not provided [MedGen:CN517202]
216_GLN GLU ClinVar
chrX:38262976
rs72558423 Pathogenic Ornithine carbamoyltransferase deficiency [MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008]; not provided [MedGen:CN517202]
217_ALA GLU ClinVar
chrX:38262980
rs72558424 Pathogenic not provided [MedGen:CN517202]
220_PRO ALA ClinVar
chrX:38262988
rs72558425 Pathogenic not provided [MedGen:CN517202]
220_PRO LEU ClinVar
chrX:38262989
rs72558426 Pathogenic not provided [MedGen:CN517202]
221_LYS ASN ClinVar
chrX:38262993
rs281865552 Pathogenic not provided [MedGen:CN517202]
225_PRO LEU ClinVar
chrX:38268005
rs67120076 Pathogenic Ornithine carbamoyltransferase deficiency [MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008]; not provided [MedGen:CN517202]
225_PRO THR ClinVar
chrX:38268004
rs72558428 Pathogenic not provided [MedGen:CN517202]
225_PRO ARG ClinVar
chrX:38268005
rs67120076 Pathogenic not provided [MedGen:CN517202]
225_PRO SER ClinVar
chrX:38268004
rs72558428 Likely pathogenic not provided [MedGen:CN517202]
233_ALA VAL ClinVar
chrX:38268029
rs72558429 Pathogenic not provided [MedGen:CN517202]
234_GLU TER ClinVar
chrX:38268031
rs72558430 Pathogenic not provided [MedGen:CN517202]
239_GLU GLY ClinVar
chrX:38268047
rs67283833 Pathogenic not provided [MedGen:CN517202]
239_GLU VAL ClinVar
chrX:38268047
rs67283833 Pathogenic not provided [MedGen:CN517202]
239_GLU ASP ClinVar
chrX:38268048
rs66851495 Pathogenic not provided [MedGen:CN517202]
242_THR ILE ClinVar
chrX:38268136
rs72558435 Pathogenic not provided [MedGen:CN517202]
244_LEU GLN ClinVar
chrX:38268142
rs72558436 Pathogenic not provided [MedGen:CN517202]
247_THR LYS ClinVar
chrX:38268151
rs72558437 Pathogenic not provided [MedGen:CN517202]
253_ALA THR ClinVar
chrX:38268168
rs67330615 Pathogenic not provided [MedGen:CN517202]
253_ALA PRO ClinVar
chrX:38268168
rs67330615 Pathogenic not provided [MedGen:CN517202]
255_HIS PRO ClinVar
chrX:38268175
rs72558440 Pathogenic not provided [MedGen:CN517202]
260_LEU SER ClinVar
chrX:38268190
rs72558441 Pathogenic not provided [MedGen:CN517202]
262_THR LYS ClinVar
chrX:38268196
rs67333670 Pathogenic not provided [MedGen:CN517202]
262_THR ILE ClinVar
chrX:38268196
rs67333670 Pathogenic not provided [MedGen:CN517202]
263_ASP ASN ClinVar
chrX:38268198
rs72558442 Pathogenic not provided [MedGen:CN517202]
263_ASP GLY ClinVar
chrX:38268199
rs72558443 Pathogenic not provided [MedGen:CN517202]
264_THR ALA ClinVar
chrX:38268201
rs72558444 Pathogenic not provided [MedGen:CN517202]
264_THR ASN ClinVar
chrX:38268202
rs67156896 Pathogenic not provided [MedGen:CN517202]
264_THR ILE ClinVar
chrX:38268202
rs67156896 Pathogenic not provided [MedGen:CN517202]
265_TRP ARG ClinVar
chrX:38268204
rs72558445 Pathogenic not provided [MedGen:CN517202]
265_TRP LEU ClinVar
chrX:38268205
rs72558446 Pathogenic not provided [MedGen:CN517202]
265_TRP TER ClinVar
chrX:38268206
rs72558447 Pathogenic not provided [MedGen:CN517202]
267_SER ARG ClinVar
chrX:38268210
rs72558448 Pathogenic not provided [MedGen:CN517202]
268_MET THR ClinVar
chrX:38268214
rs72558449 Pathogenic Ornithine carbamoyltransferase deficiency [MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008]; not provided [MedGen:CN517202]
269_GLY GLU ClinVar
chrX:38268217
rs72558450 Pathogenic not provided [MedGen:CN517202]
270_GLN TER ClinVar
chrX:38268219
rs72558451 Pathogenic not provided [MedGen:CN517202]
270_GLN PRO ClinVar
chrX:38268220
rs1800328 Pathogenic not provided [MedGen:CN517202]
277_ARG TRP ClinVar
chrX:38268240
rs72558454 Pathogenic Ornithine carbamoyltransferase deficiency [MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008]; not provided [MedGen:CN517202]
277_ARG GLN ClinVar
chrX:38268241
rs66724222 Pathogenic not provided [MedGen:CN517202]; not specified [MedGen:CN169374]
277_ARG LEU ClinVar
chrX:38268241
rs66724222 Pathogenic not provided [MedGen:CN517202]
279_GLN TER ClinVar
chrX:38268246
rs72558455 Pathogenic not provided [MedGen:CN517202]
289_LYS ASN ClinVar
chrX:38268278
rs72558456 Pathogenic not provided [MedGen:CN517202]
298_TRP SER ClinVar
chrX:38271140
rs72558461 Pathogenic not provided [MedGen:CN517202]
301_LEU PHE ClinVar
chrX:38271150
rs72558462 Pathogenic not provided [MedGen:CN517202]
302_HIS TYR ClinVar
chrX:38271151
rs72558463 Pathogenic not provided [MedGen:CN517202]
302_HIS ARG ClinVar
chrX:38271152
rs67993095 Pathogenic not provided [MedGen:CN517202]
302_HIS LEU ClinVar
chrX:38271152
rs67993095 Pathogenic not provided [MedGen:CN517202]
302_HIS GLN ClinVar
chrX:38271153
rs67870244 Pathogenic not provided [MedGen:CN517202]
303_CYS ARG ClinVar
chrX:38271154
rs67468335 Pathogenic not provided [MedGen:CN517202]
303_CYS GLY ClinVar
chrX:38271154
rs67468335 Pathogenic not provided [MedGen:CN517202]
303_CYS TYR ClinVar
chrX:38271155
rs72558464 Pathogenic not provided [MedGen:CN517202]
304_LEU PHE ClinVar
chrX:38271159
rs72558465 Pathogenic Ornithine carbamoyltransferase deficiency [MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008]; not provided [MedGen:CN517202]
305_PRO HIS ClinVar
chrX:38271161
rs67501347 Pathogenic not provided [MedGen:CN517202]
305_PRO ARG ClinVar
chrX:38271161
rs67501347 Pathogenic not provided [MedGen:CN517202]
307_LYS GLU ClinVar
chrX:38271166
rs796052013 Pathogenic not provided [MedGen:CN517202]
310_GLU TER ClinVar
chrX:38271175
rs72558466 Pathogenic not provided [MedGen:CN517202]
310_GLU GLY ClinVar
chrX:38271176
rs72558467 Pathogenic not provided [MedGen:CN517202]
311_VAL MET ClinVar
chrX:38271178
rs72558468 Pathogenic not provided [MedGen:CN517202]
315_VAL PHE ClinVar
chrX:38271190
rs72558470 Likely pathogenic Ornithine carbamoyltransferase deficiency [MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008]; not provided [MedGen:CN517202]
315_VAL ASP ClinVar
chrX:38271191
rs67414444 Pathogenic Ornithine carbamoyltransferase deficiency [MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008]; not provided [MedGen:CN517202]
315_VAL GLY ClinVar
chrX:38271191
rs67414444 Pathogenic not provided [MedGen:CN517202]
316_PHE SER ClinVar
chrX:38271194
rs72558471 Pathogenic not provided [MedGen:CN517202]
318_SER PHE ClinVar
chrX:38271200
rs72558472 Pathogenic not provided [MedGen:CN517202]
320_ARG TER ClinVar
chrX:38271205
rs72558473 Pathogenic Ornithine carbamoyltransferase deficiency [MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008]; not provided [MedGen:CN517202]
320_ARG LEU ClinVar
chrX:38271206
rs72558474 Pathogenic not provided [MedGen:CN517202]
321_SER TER ClinVar
chrX:38271209
rs72558475 Pathogenic not provided [MedGen:CN517202]
326_GLU LYS ClinVar
chrX:38271223
rs72558476 Pathogenic not provided [MedGen:CN517202]
328_GLU TER ClinVar
chrX:38271229
rs72558477 Pathogenic not provided [MedGen:CN517202]
330_ARG GLY ClinVar
chrX:38271235
rs72558478 Likely pathogenic not provided [MedGen:CN517202]
331_LYS TER ClinVar
chrX:38271238
rs72558479 Pathogenic not provided [MedGen:CN517202]
332_TRP ARG ClinVar
chrX:38271241
rs72558480 Pathogenic not provided [MedGen:CN517202]
332_TRP TER ClinVar
chrX:38271242
rs72558481 Pathogenic not provided [MedGen:CN517202]
332_TRP TER ClinVar
chrX:38271243
rs72558482 Pathogenic not provided [MedGen:CN517202]
333_THR ALA VAR_012656 - Polymorphism -
335_MET ILE ClinVar
chrX:38271252
rs281865553 Pathogenic not provided [MedGen:CN517202]
336_ALA SER ClinVar
chrX:38280276
rs72558486 Pathogenic not provided [MedGen:CN517202]
337_VAL LEU ClinVar
chrX:38280279
rs72558487 Pathogenic not provided [MedGen:CN517202]
339_VAL LEU ClinVar
chrX:38280285
rs72558488 Pathogenic not provided [MedGen:CN517202]
340_SER PRO ClinVar
chrX:38280288
rs72558489 Pathogenic not provided [MedGen:CN517202]
341_LEU PRO ClinVar
chrX:38280292
rs72558490 Pathogenic not provided [MedGen:CN517202]
343_THR LYS ClinVar
chrX:38280298
rs72558491 Pathogenic not provided [MedGen:CN517202]
345_TYR ASP ClinVar
chrX:38280303
rs66469337 Pathogenic Ornithine carbamoyltransferase deficiency [MedGen:C0268542,OMIM:311250,Orphanet:ORPHA664,SNOMED CT:80908008]; not provided [MedGen:CN517202]
345_TYR HIS ClinVar
chrX:38280303
rs66469337 Pathogenic not provided [MedGen:CN517202]
345_TYR CYS ClinVar
chrX:38280304
rs72558492 Pathogenic not provided [MedGen:CN517202]
347_PRO THR ClinVar
chrX:38280309
rs72558493 Pathogenic not provided [MedGen:CN517202]
348_GLN TER ClinVar
chrX:38280312
rs72558494 Pathogenic not provided [MedGen:CN517202]
354_PHE CYS ClinVar
chrX:38280331
rs72558495 Pathogenic not provided [MedGen:CN517202]