PDB ID 1C9Y CHAINA
Protein nameORNITHINE CARBAMOYLTRANSFERASE
Uniprot Accession P00480
The number of similar proteins 6
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
1C9Y (CHAIN: A)
1 P00480 P00480
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partners
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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 UNK ClinVar rs72554305 Pathogenic not provided [MedGen:CN517202]
39_GLY CYS VAR_004844 rs72554306 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
40_ARG HIS VAR_004846 rs72554308 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
40_ARG CYS ClinVar rs72554307 Pathogenic Ornithine carbamoyltransferase deficiency;not provided [MedGen:C0268542, OMIM:311250, Orphanet:ORPHA664, SNOMED CT:80908008; MedGen:CN517202]
41_ASP GLY ClinVar rs74518351 Pathogenic not provided [MedGen:CN517202]
43_LEU PHE VAR_004847 rs72554309 Polymorphism -
44_THR ILE VAR_004848 rs72554310 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
45_LEU VAL VAR_004850 rs72554311 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
45_LEU PRO ClinVar rs72554312 Pathogenic Ornithine carbamoyltransferase deficiency;not provided [MedGen:C0268542, OMIM:311250, Orphanet:ORPHA664, SNOMED CT:80908008; MedGen:CN517202]
46_LYS ARG VAR_004851 rs1800321 Polymorphism -
47_ASN ILE VAR_004852 rs67939655 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
48_PHE SER ClinVar rs72554315 Pathogenic not provided [MedGen:CN517202]
49_THR PRO ClinVar rs72554316 Pathogenic not provided [MedGen:CN517202]
50_GLY ARG VAR_004853 rs67486158 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
50_GLY UNK ClinVar rs67486158 Pathogenic Ornithine carbamoyltransferase deficiency;not provided [MedGen:C0268542, OMIM:311250, Orphanet:ORPHA664, SNOMED CT:80908008; MedGen:CN517202]
52_GLU LYS ClinVar rs66521141 Pathogenic not provided [MedGen:CN517202]
52_GLU UNK ClinVar rs66521141 Pathogenic not provided [MedGen:CN517202]
52_GLU GLY ClinVar rs72554317 Pathogenic not provided [MedGen:CN517202]
52_GLU ASP ClinVar rs72554318 Pathogenic not provided [MedGen:CN517202]
53_ILE THR ClinVar rs66677059 Pathogenic not provided [MedGen:CN517202]
53_ILE SER ClinVar rs66677059 Pathogenic not provided [MedGen:CN517202]
55_TYR ASP VAR_004854 rs72554319 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
56_MET THR VAR_004855 rs72554320 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
57_LEU GLN ClinVar rs72554321 Pathogenic not provided [MedGen:CN517202]
58_TRP UNK ClinVar rs72554322 Pathogenic not provided [MedGen:CN517202]
60_SER LEU VAR_004856 rs72554323 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
63_LEU PRO VAR_004857 rs72554324 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
67_ILE ARG ClinVar rs72554325 Pathogenic not provided [MedGen:CN517202]
69_GLN UNK ClinVar rs72554326 Pathogenic not provided [MedGen:CN517202]
76_LEU SER ClinVar rs72554328 Pathogenic not provided [MedGen:CN517202]
77_LEU PHE ClinVar rs72554329 Pathogenic not provided [MedGen:CN517202]
78_GLN UNK ClinVar rs72554330 Pathogenic not provided [MedGen:CN517202]
79_GLY GLU VAR_004858 rs72554331 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
80_LYS GLU ClinVar rs72554332 Pathogenic Ornithine carbamoyltransferase deficiency;not provided [MedGen:C0268542, OMIM:311250, Orphanet:ORPHA664, SNOMED CT:80908008; MedGen:CN517202]
80_LYS ASN ClinVar rs72554333 Pathogenic not provided [MedGen:CN517202]
82_LEU UNK ClinVar rs72554335 Pathogenic not provided [MedGen:CN517202]
83_GLY ARG VAR_004861 rs72554336 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
83_GLY ASP ClinVar rs72554337 Pathogenic not provided [MedGen:CN517202]
85_ILE THR ClinVar rs878853245 Likely pathogenic Ornithine carbamoyltransferase deficiency [MedGen:C0268542, OMIM:311250, Orphanet:ORPHA664, SNOMED CT:80908008]
87_GLU LYS VAR_004862 rs72554338 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
88_LYS ASN VAR_004863 rs72554339 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
90_SER ARG VAR_004864 rs72554342 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
90_SER GLY ClinVar rs72554340 Pathogenic not provided [MedGen:CN517202]
90_SER ASN ClinVar rs72554341 Pathogenic not provided [MedGen:CN517202]
92_ARG GLN VAR_004865 rs66550389 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
92_ARG GLY ClinVar rs67418243 Pathogenic not provided [MedGen:CN517202]
92_ARG UNK ClinVar rs67418243 Pathogenic not provided [MedGen:CN517202]
92_ARG PRO ClinVar rs66550389 Pathogenic not provided [MedGen:CN517202]
92_ARG LEU ClinVar rs66550389 Pathogenic not provided [MedGen:CN517202]
93_THR ALA VAR_004866 rs72554344 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
94_ARG THR VAR_004867 rs72554345 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
95_LEU SER ClinVar rs72554346 Pathogenic not provided [MedGen:CN517202]
98_GLU LYS ClinVar rs72554347 Pathogenic not provided [MedGen:CN517202]
100_GLY ASP VAR_004868 rs72554349 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
101_PHE LEU VAR_004869 rs1133135 Polymorphism -
102_ALA GLU VAR_004870 rs72554350 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
105_GLY VAL ClinVar rs72554351 Pathogenic not provided [MedGen:CN517202]
106_GLY ARG ClinVar rs72554352 Pathogenic not provided [MedGen:CN517202]
106_GLY GLU ClinVar rs67651903 Pathogenic not provided [MedGen:CN517202]
106_GLY VAL ClinVar rs67651903 Pathogenic not provided [MedGen:CN517202]
111_LEU PRO VAR_004871 rs1800324 Polymorphism -
117_HIS ARG VAR_004873 rs66539573 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
117_HIS LEU ClinVar rs66539573 Pathogenic not provided [MedGen:CN517202]
122_GLU GLY ClinVar rs1131691517 Likely pathogenic not provided [MedGen:CN517202]
125_THR MET VAR_004874 rs72554356 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
126_ASP GLY VAR_004875 rs72554358 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
129_ARG HIS VAR_004876 rs66656800 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
129_ARG PRO ClinVar rs66656800 Pathogenic not provided [MedGen:CN517202]
129_ARG LEU ClinVar rs66656800 Pathogenic not provided [MedGen:CN517202]
131_LEU SER ClinVar rs72556252 Pathogenic not provided [MedGen:CN517202]
132_SER PRO ClinVar rs72556253 Pathogenic not provided [MedGen:CN517202]
132_SER PHE ClinVar rs72556254 Pathogenic not provided [MedGen:CN517202]
135_ALA GLU ClinVar rs72556256 Pathogenic not provided [MedGen:CN517202]
136_ASP VAL ClinVar rs72556257 Pathogenic not provided [MedGen:CN517202]
137_ALA THR ClinVar rs72556258 Pathogenic not provided [MedGen:CN517202]
139_LEU SER VAR_004877 rs72556259 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
140_ALA PRO VAR_010605 rs72556260 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
141_ARG GLN VAR_004879 rs68026851 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
141_ARG GLY ClinVar rs67960011 Pathogenic not provided [MedGen:CN517202]
141_ARG UNK ClinVar rs67960011 Pathogenic Ornithine carbamoyltransferase deficiency;not provided [MedGen:C0268542, OMIM:311250, Orphanet:ORPHA664, SNOMED CT:80908008; MedGen:CN517202]
141_ARG PRO ClinVar rs68026851 Pathogenic not provided [MedGen:CN517202]
142_VAL GLU ClinVar rs72556261 Pathogenic not provided [MedGen:CN517202]
144_LYS UNK ClinVar rs72556262 Pathogenic not provided [MedGen:CN517202]
146_SER UNK ClinVar rs72556263 Pathogenic not provided [MedGen:CN517202]
148_LEU PHE VAR_004880 rs66741318 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
148_LEU SER ClinVar rs67016166 Pathogenic not provided [MedGen:CN517202]
148_LEU TRP ClinVar rs67016166 Pathogenic not provided [MedGen:CN517202]
151_LEU ARG ClinVar rs72556265 Pathogenic not provided [MedGen:CN517202]
152_ALA VAL ClinVar rs72556266 Pathogenic not provided [MedGen:CN517202]
154_GLU UNK ClinVar rs72556267 Pathogenic Ornithine carbamoyltransferase deficiency;not provided [MedGen:C0268542, OMIM:311250, Orphanet:ORPHA664, SNOMED CT:80908008; MedGen:CN517202]
155_ALA PRO ClinVar rs67890094 Pathogenic not provided [MedGen:CN517202]
155_ALA SER ClinVar rs67890094 Pathogenic not provided [MedGen:CN517202]
155_ALA GLU ClinVar rs72556268 Pathogenic not provided [MedGen:CN517202]
159_ILE THR VAR_004881 rs72556269 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
160_ILE SER VAR_012651 rs67954347 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
160_ILE ASN ClinVar rs67954347 Pathogenic not provided [MedGen:CN517202]
160_ILE THR ClinVar rs67954347 Pathogenic not provided [MedGen:CN517202]
161_ASN SER VAR_004882 rs72556271 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
161_ASN ASP ClinVar rs72556270 Pathogenic not provided [MedGen:CN517202]
162_GLY ARG VAR_004883 rs66626662 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
162_GLY GLU ClinVar rs72556272 Pathogenic not provided [MedGen:CN517202]
164_SER PRO ClinVar rs72556273 Pathogenic not provided [MedGen:CN517202]
164_SER UNK ClinVar rs72556274 Pathogenic not provided [MedGen:CN517202]
165_ASP TYR ClinVar rs72556275 Pathogenic not provided [MedGen:CN517202]
167_TYR UNK ClinVar rs66564822 Pathogenic not provided [MedGen:CN517202]
167_TYR UNK ClinVar rs66564822 Pathogenic not provided [MedGen:CN517202]
168_HIS ARG VAR_004885 rs66867430 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
168_HIS PRO ClinVar rs66867430 Pathogenic not provided [MedGen:CN517202]
168_HIS GLN ClinVar rs72556276 Pathogenic not provided [MedGen:CN517202]
169_PRO ALA ClinVar rs72556277 Pathogenic not provided [MedGen:CN517202]
169_PRO LEU ClinVar rs72556278 Pathogenic not provided [MedGen:CN517202]
172_ILE PHE VAR_009233 rs72556279 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
172_ILE MET ClinVar rs72556280 Pathogenic not provided [MedGen:CN517202]
173_LEU VAL ClinVar rs1131692152 Pathogenic Ornithine carbamoyltransferase deficiency [MedGen:C0268542, OMIM:311250, Orphanet:ORPHA664, SNOMED CT:80908008]
174_ALA PRO VAR_004887 rs72556281 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
175_ASP VAL VAR_004888 rs68033093 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
175_ASP GLY ClinVar rs68033093 Pathogenic not provided [MedGen:CN517202]
176_TYR CYS VAR_004889 rs72556283 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
176_TYR HIS ClinVar rs72556282 Pathogenic not provided [MedGen:CN517202]
178_THR MET VAR_004890 rs72556284 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
179_LEU PRO ClinVar rs72556286 Pathogenic not provided [MedGen:CN517202]
180_GLN HIS VAR_004892 rs72556287 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
181_GLU GLY VAR_004893 rs72556290 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
182_HIS LEU VAR_004894 rs72556291 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
183_TYR ASP VAR_004896 rs72556292 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
183_TYR CYS ClinVar rs72556293 Pathogenic not provided [MedGen:CN517202]
188_GLY VAL VAR_009234 rs72556295 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
188_GLY ARG ClinVar rs72556294 Pathogenic not provided [MedGen:CN517202]
191_LEU PHE VAR_012652 rs72556296 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
192_SER ARG VAR_004898 rs72556298 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
193_TRP ARG ClinVar rs67284661 Pathogenic not provided [MedGen:CN517202]
193_TRP GLY ClinVar rs67284661 Pathogenic not provided [MedGen:CN517202]
193_TRP UNK ClinVar rs72556299 Pathogenic not provided [MedGen:CN517202]
195_GLY ARG VAR_004899 rs67294955 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
196_ASP TYR VAR_004901 rs66642398 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
196_ASP ASN ClinVar rs66642398 Pathogenic not provided [MedGen:CN517202]
196_ASP VAL ClinVar rs72556300 Pathogenic not provided [MedGen:CN517202]
197_GLY ARG VAR_009235 rs72556301 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
197_GLY GLU ClinVar rs72556302 Pathogenic not provided [MedGen:CN517202]
198_ASN LYS VAR_010606 rs72558404 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
198_ASN ILE ClinVar rs72558403 Pathogenic not provided [MedGen:CN517202]
199_ASN ASP ClinVar rs72558405 Pathogenic not provided [MedGen:CN517202]
199_ASN SER ClinVar rs72558406 Pathogenic/Likely pathogenic not provided [MedGen:CN517202]
201_LEU PRO VAR_004903 rs72558407 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
202_HIS TYR VAR_004904 rs72558408 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
202_HIS PRO ClinVar rs72558409 Pathogenic not provided [MedGen:CN517202]
203_SER CYS VAR_004905 rs72558410 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
205_MET VAL ClinVar rs72558411 Pathogenic not provided [MedGen:CN517202]
205_MET ILE ClinVar rs796052012 Pathogenic not provided [MedGen:CN517202]
206_MET ILE VAR_012653 rs72558413 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
206_MET ARG ClinVar rs72558412 Pathogenic Ornithine carbamoyltransferase deficiency;not provided [MedGen:C0268542, OMIM:311250, Orphanet:ORPHA664, SNOMED CT:80908008; MedGen:CN517202]
207_SER ARG VAR_004907 rs72558415 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
207_SER ASN ClinVar rs72558414 Pathogenic not provided [MedGen:CN517202]
208_ALA THR VAR_004908 rs72558416 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
209_ALA VAL VAR_004909 rs72558417 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
210_LYS GLN ClinVar rs72558418 Pathogenic not provided [MedGen:CN517202]
212_GLY UNK ClinVar rs772049322 Pathogenic not provided [MedGen:CN517202]
213_MET LYS VAR_004910 - Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
214_HIS TYR VAR_010607 rs72558420 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
215_LEU PHE ClinVar rs72558421 Pathogenic not provided [MedGen:CN517202]
216_GLN GLU VAR_004911 rs72558423 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
217_ALA GLU ClinVar rs72558424 Pathogenic not provided [MedGen:CN517202]
220_PRO ALA VAR_004912 rs72558425 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
220_PRO LEU ClinVar rs72558426 Pathogenic not provided [MedGen:CN517202]
221_LYS LYS ClinVar rs281865552 Pathogenic not provided [MedGen:CN517202]
221_LYS ASN ClinVar rs281865552 Pathogenic not provided [MedGen:CN517202]
225_PRO THR VAR_004915 rs72558428 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
225_PRO SER ClinVar rs72558428 Likely pathogenic not provided [MedGen:CN517202]
225_PRO ARG ClinVar rs67120076 Pathogenic not provided [MedGen:CN517202]
225_PRO LEU ClinVar rs67120076 Pathogenic/Likely pathogenic Ornithine carbamoyltransferase deficiency;not provided [MedGen:C0268542, OMIM:311250, Orphanet:ORPHA664, SNOMED CT:80908008; MedGen:CN517202]
233_ALA VAL ClinVar rs72558429 Pathogenic not provided [MedGen:CN517202]
234_GLU UNK ClinVar rs72558430 Pathogenic not provided [MedGen:CN517202]
239_GLU GLY ClinVar rs67283833 Pathogenic not provided [MedGen:CN517202]
239_GLU VAL ClinVar rs67283833 Pathogenic not provided [MedGen:CN517202]
239_GLU GLU ClinVar rs66851495 Pathogenic not provided [MedGen:CN517202]
239_GLU ASP ClinVar rs66851495 Pathogenic not provided [MedGen:CN517202]
242_THR ILE VAR_004916 rs72558435 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
244_LEU GLN VAR_004917 rs72558436 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
247_THR LYS VAR_004918 rs72558437 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
253_ALA THR ClinVar rs67330615 Pathogenic not provided [MedGen:CN517202]
253_ALA PRO ClinVar rs67330615 Pathogenic not provided [MedGen:CN517202]
255_HIS PRO VAR_004919 rs72558440 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
260_LEU SER ClinVar rs72558441 Pathogenic not provided [MedGen:CN517202]
262_THR LYS VAR_010608 rs67333670 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
262_THR ILE ClinVar rs67333670 Pathogenic not provided [MedGen:CN517202]
263_ASP ASN VAR_004921 rs72558442 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
263_ASP GLY ClinVar rs72558443 Pathogenic not provided [MedGen:CN517202]
264_THR ILE VAR_004923 rs67156896 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
264_THR ALA ClinVar rs72558444 Pathogenic not provided [MedGen:CN517202]
264_THR ASN ClinVar rs67156896 Pathogenic not provided [MedGen:CN517202]
265_TRP LEU VAR_010609 rs72558446 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
265_TRP ARG ClinVar rs72558445 Pathogenic not provided [MedGen:CN517202]
265_TRP UNK ClinVar rs72558447 Pathogenic not provided [MedGen:CN517202]
267_SER ARG VAR_004924 rs72558448 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
268_MET THR VAR_004925 rs72558449 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
269_GLY GLU VAR_004926 rs72558450 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
277_ARG TRP VAR_004930 rs72558454 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
277_ARG GLN ClinVar rs66724222 Pathogenic not provided;not specified [MedGen:CN517202; MedGen:CN169374]
277_ARG LEU ClinVar rs66724222 Pathogenic not provided [MedGen:CN517202]
279_GLN UNK ClinVar rs72558455 Pathogenic not provided [MedGen:CN517202]
289_LYS ASN ClinVar rs72558456 Pathogenic not provided [MedGen:CN517202]
298_TRP SER ClinVar rs72558461 Pathogenic not provided [MedGen:CN517202]
301_LEU PHE VAR_012654 rs72558462 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
302_HIS TYR VAR_004933 rs72558463 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
302_HIS ARG ClinVar rs67993095 Pathogenic not provided [MedGen:CN517202]
302_HIS LEU ClinVar rs67993095 Pathogenic not provided [MedGen:CN517202]
302_HIS GLN ClinVar rs67870244 Pathogenic not provided [MedGen:CN517202]
303_CYS TYR VAR_004935 rs72558464 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
303_CYS ARG ClinVar rs67468335 Pathogenic not provided [MedGen:CN517202]
303_CYS GLY ClinVar rs67468335 Pathogenic not provided [MedGen:CN517202]
304_LEU PHE VAR_004936 rs72558465 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
305_PRO HIS VAR_012655 rs67501347 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
305_PRO ARG ClinVar rs67501347 Pathogenic not provided [MedGen:CN517202]
307_LYS GLU ClinVar rs796052013 Pathogenic not provided [MedGen:CN517202]
310_GLU UNK ClinVar rs72558466 Pathogenic not provided [MedGen:CN517202]
310_GLU GLY ClinVar rs72558467 Pathogenic not provided [MedGen:CN517202]
311_VAL MET ClinVar rs72558468 Pathogenic not provided [MedGen:CN517202]
315_VAL PHE ClinVar rs72558470 Pathogenic not provided [MedGen:CN517202]
315_VAL ASP ClinVar rs67414444 Pathogenic not provided [MedGen:CN517202]
315_VAL GLY ClinVar rs67414444 Pathogenic not provided [MedGen:CN517202]
316_PHE SER ClinVar rs72558471 Pathogenic not provided [MedGen:CN517202]
318_SER PHE ClinVar rs72558472 Pathogenic not provided [MedGen:CN517202]
320_ARG LEU VAR_004938 rs72558474 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
320_ARG UNK ClinVar rs72558473 Pathogenic Ornithine carbamoyltransferase deficiency;not provided [MedGen:C0268542, OMIM:311250, Orphanet:ORPHA664, SNOMED CT:80908008; MedGen:CN517202]
321_SER UNK ClinVar rs72558475 Pathogenic not provided [MedGen:CN517202]
326_GLU LYS VAR_010610 rs72558476 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
328_GLU UNK ClinVar rs72558477 Pathogenic not provided [MedGen:CN517202]
330_ARG GLY VAR_004939 rs72558478 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
331_LYS UNK ClinVar rs72558479 Pathogenic not provided [MedGen:CN517202]
332_TRP ARG ClinVar rs72558480 Pathogenic not provided [MedGen:CN517202]
332_TRP UNK ClinVar rs72558481 Pathogenic not provided [MedGen:CN517202]
332_TRP UNK ClinVar rs72558482 Pathogenic not provided [MedGen:CN517202]
333_THR ALA VAR_012656 - Polymorphism -
335_MET ILE ClinVar rs281865553 Pathogenic not provided [MedGen:CN517202]
336_ALA SER VAR_004940 rs72558486 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
337_VAL LEU VAR_004941 rs72558487 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
339_VAL LEU VAR_004942 rs72558488 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
340_SER PRO VAR_004943 rs72558489 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
341_LEU PRO VAR_012657 rs72558490 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
343_THR LYS VAR_004944 rs72558491 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
345_TYR ASP VAR_004947 rs66469337 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
345_TYR HIS ClinVar rs66469337 Pathogenic not provided [MedGen:CN517202]
345_TYR CYS ClinVar rs72558492 Pathogenic not provided [MedGen:CN517202]
347_PRO THR ClinVar rs72558493 Pathogenic not provided [MedGen:CN517202]
348_GLN UNK ClinVar rs72558494 Pathogenic not provided [MedGen:CN517202]
354_PHE CYS VAR_004948 rs72558495 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]