##gff-version 3 P50440 UniProtKB Transit peptide 1 43 . . . Note=Mitochondrion;Ontology_term=ECO:0000255;evidence=ECO:0000255 P50440 UniProtKB Chain 44 423 . . . ID=PRO_0000001206;Note=Glycine amidinotransferase%2C mitochondrial P50440 UniProtKB Active site 254 254 . . . Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:9218780,ECO:0007744|PDB:4JDW;Dbxref=PMID:9218780 P50440 UniProtKB Active site 303 303 . . . Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:9218780,ECO:0007744|PDB:4JDW;Dbxref=PMID:9218780 P50440 UniProtKB Active site 407 407 . . . Note=Amidino-cysteine intermediate;Ontology_term=ECO:0000269,ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:9148748,ECO:0000269|PubMed:9218780,ECO:0007744|PDB:4JDW;Dbxref=PMID:9148748,PMID:9218780 P50440 UniProtKB Binding site 170 170 . . . Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:9218780,ECO:0007744|PDB:4JDW;Dbxref=PMID:9218780 P50440 UniProtKB Binding site 305 305 . . . Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:9218780,ECO:0007744|PDB:4JDW;Dbxref=PMID:9218780 P50440 UniProtKB Binding site 322 322 . . . Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:9218780,ECO:0007744|PDB:4JDW;Dbxref=PMID:9218780 P50440 UniProtKB Binding site 354 354 . . . Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:9218780,ECO:0007744|PDB:4JDW;Dbxref=PMID:9218780 P50440 UniProtKB Binding site 355 355 . . . Ontology_term=ECO:0000269,ECO:0007744;evidence=ECO:0000269|PubMed:9218780,ECO:0007744|PDB:4JDW;Dbxref=PMID:9218780 P50440 UniProtKB Modified residue 46 46 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 P50440 UniProtKB Modified residue 49 49 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 P50440 UniProtKB Modified residue 385 385 . . . Note=N6-acetyllysine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:19608861;Dbxref=PMID:19608861 P50440 UniProtKB Alternative sequence 1 37 . . . ID=VSP_000235;Note=In isoform 2. MLRVRCLRGGSRGAEAVHYIGSRLGRTLTGWVQRTFQ->MNILK;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 P50440 UniProtKB Alternative sequence 388 423 . . . ID=VSP_039871;Note=In isoform 3. ITTIKVNIRNANSLGGGFHCWTCDVRRRGTLQSYLD->MYNK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 P50440 UniProtKB Natural variant 23 23 . . . ID=VAR_076483;Note=In CCDS3%3B uncertain significance%3B reduces glycine amidinotransferase activity. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27233232;Dbxref=dbSNP:rs370155767,PMID:27233232 P50440 UniProtKB Natural variant 93 93 . . . ID=VAR_076484;Note=In CCDS3%3B uncertain significance%3B reduces glycine amidinotransferase activity. I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27233232;Dbxref=dbSNP:rs34991226,PMID:27233232 P50440 UniProtKB Natural variant 102 102 . . . ID=VAR_076485;Note=In CCDS3%3B uncertain significance%3B reduces glycine amidinotransferase activity. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27233232;Dbxref=dbSNP:rs376335787,PMID:27233232 P50440 UniProtKB Natural variant 105 105 . . . ID=VAR_076486;Note=In CCDS3%3B loss of glycine amidinotransferase activity. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27233232;Dbxref=dbSNP:rs147804855,PMID:27233232 P50440 UniProtKB Natural variant 110 110 . . . ID=VAR_020305;Note=Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.4;Dbxref=dbSNP:rs1288775 P50440 UniProtKB Natural variant 181 181 . . . ID=VAR_076487;Note=In CCDS3%3B loss of glycine amidinotransferase activity. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27233232;Dbxref=dbSNP:rs376982466,PMID:27233232 P50440 UniProtKB Natural variant 185 185 . . . ID=VAR_076488;Note=In CCDS3%3B decreases glycine amidinotransferase activity. A->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:26490222,ECO:0000269|PubMed:27233232;Dbxref=PMID:26490222,PMID:27233232 P50440 UniProtKB Natural variant 189 189 . . . ID=VAR_076489;Note=In CCDS3%3B loss of glycine amidinotransferase activity. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27233232;Dbxref=dbSNP:rs377578020,PMID:27233232 P50440 UniProtKB Natural variant 203 203 . . . ID=VAR_069816;Note=In CCDS3%3B loss of glycine amidinotransferase activity. Y->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23770102,ECO:0000269|PubMed:26490222,ECO:0000269|PubMed:27233232;Dbxref=dbSNP:rs397514709,PMID:23770102,PMID:26490222,PMID:27233232 P50440 UniProtKB Natural variant 208 208 . . . ID=VAR_076490;Note=In CCDS3%3B loss of glycine amidinotransferase activity. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27233232;Dbxref=dbSNP:rs374059924,PMID:27233232 P50440 UniProtKB Natural variant 231 231 . . . ID=VAR_076491;Note=Decreases glycine amidinotransferase activity. S->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27233232;Dbxref=dbSNP:rs202225656,PMID:27233232 P50440 UniProtKB Natural variant 234 234 . . . ID=VAR_076492;Note=Decreases glycine amidinotransferase activity. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27233232;Dbxref=dbSNP:rs146057680,PMID:27233232 P50440 UniProtKB Natural variant 282 282 . . . ID=VAR_076493;Note=In CCDS3%3B decreases glycine amidinotransferase activity. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27233232;Dbxref=dbSNP:rs371447931,PMID:27233232 P50440 UniProtKB Natural variant 320 320 . . . ID=VAR_084378;Note=In FRTS1%3B results in GATM protein aggregation%3B GATM deposits affect mitochondrial morphology leading to abnormal and elongated mitochondria. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29654216;Dbxref=dbSNP:rs1889443535,PMID:29654216 P50440 UniProtKB Natural variant 329 329 . . . ID=VAR_076494;Note=In CCDS3%3B decreases glycine amidinotransferase activity. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27233232;Dbxref=dbSNP:rs373802463,PMID:27233232 P50440 UniProtKB Natural variant 336 336 . . . ID=VAR_084379;Note=In FRTS1%3B results in GATM protein aggregation%3B GATM deposits affect mitochondrial morphology leading to abnormal and elongated mitochondria. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29654216;Dbxref=dbSNP:rs1889422994,PMID:29654216 P50440 UniProtKB Natural variant 336 336 . . . ID=VAR_084380;Note=In FRTS1%3B results in GATM protein aggregation%3B GATM deposits affect mitochondrial morphology and results in increased ROS production%2C activation of the NLRP3 inflammasome and enhanced expression of the profibrotic cytokine IL-18. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29654216;Dbxref=PMID:29654216 P50440 UniProtKB Natural variant 341 341 . . . ID=VAR_084381;Note=In FRTS1%3B results in GATM protein aggregation%3B GATM deposits affect mitochondrial morphology leading to abnormal and elongated mitochondria. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29654216;Dbxref=dbSNP:rs1889422661,PMID:29654216 P50440 UniProtKB Natural variant 346 346 . . . ID=VAR_076495;Note=In CCDS3%3B decreases glycine amidinotransferase activity. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27233232;Dbxref=dbSNP:rs142814307,PMID:27233232 P50440 UniProtKB Natural variant 413 413 . . . ID=VAR_071789;Note=In CCDS3%3B loss of glycine amidinotransferase activity. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23660394,ECO:0000269|PubMed:27233232;Dbxref=dbSNP:rs1461653218,PMID:23660394,PMID:27233232 P50440 UniProtKB Natural variant 413 413 . . . ID=VAR_071790;Note=In CCDS3%3B loss of glycine amidinotransferase activity. R->W;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:23660394,ECO:0000269|PubMed:26490222,ECO:0000269|PubMed:27233232;Dbxref=dbSNP:rs1244824806,PMID:23660394,PMID:26490222,PMID:27233232 P50440 UniProtKB Natural variant 415 415 . . . ID=VAR_076496;Note=In CCDS3%3B uncertain significance%3B reduces glycine amidinotransferase activity. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27233232;Dbxref=dbSNP:rs374592247,PMID:27233232 P50440 UniProtKB Mutagenesis 170 170 . . . Note=Complete loss of activity. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9266688;Dbxref=PMID:9266688 P50440 UniProtKB Mutagenesis 233 233 . . . Note=Complete loss of activity%3B when associated with S-407. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9266688;Dbxref=PMID:9266688 P50440 UniProtKB Mutagenesis 254 254 . . . Note=Significantly reduced activity. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9266688;Dbxref=PMID:9266688 P50440 UniProtKB Mutagenesis 303 303 . . . Note=Complete loss of activity. H->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9266688;Dbxref=PMID:9266688 P50440 UniProtKB Mutagenesis 305 305 . . . Note=Complete loss of activity. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9266688;Dbxref=PMID:9266688 P50440 UniProtKB Mutagenesis 322 322 . . . Note=Significantly reduced activity. R->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9266688;Dbxref=PMID:9266688 P50440 UniProtKB Mutagenesis 355 355 . . . Note=Significantly reduced activity. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9266688;Dbxref=PMID:9266688 P50440 UniProtKB Mutagenesis 407 407 . . . Note=Complete loss of activity%3B when associated with K-233. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9266688;Dbxref=PMID:9266688 P50440 UniProtKB Mutagenesis 410 410 . . . Note=No effect on activity. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9266688;Dbxref=PMID:9266688 P50440 UniProtKB Sequence conflict 98 98 . . . Note=N->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 P50440 UniProtKB Sequence conflict 246 246 . . . Note=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 P50440 UniProtKB Sequence conflict 384 384 . . . Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 P50440 UniProtKB Sequence conflict 395 395 . . . Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 P50440 UniProtKB Beta strand 70 73 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Beta strand 75 80 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Helix 93 96 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Helix 101 103 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Helix 104 110 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Beta strand 113 115 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Helix 117 136 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Beta strand 140 142 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Beta strand 152 154 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Beta strand 159 161 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Helix 168 171 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Beta strand 172 176 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Beta strand 178 181 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Helix 187 189 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Helix 192 195 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Helix 197 205 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Beta strand 209 212 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Helix 220 222 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Helix 232 240 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Beta strand 248 250 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Helix 255 257 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Beta strand 258 261 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Beta strand 264 267 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Helix 275 285 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Turn 286 288 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Beta strand 290 293 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Beta strand 296 298 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Turn 305 307 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Beta strand 308 312 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Beta strand 315 318 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Helix 327 332 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Beta strand 336 338 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Beta strand 352 354 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Helix 356 360 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Beta strand 363 366 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Beta strand 369 373 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Helix 377 385 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Beta strand 389 393 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Helix 396 399 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Turn 400 402 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Turn 405 408 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW P50440 UniProtKB Beta strand 409 415 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1JDW