##gff-version 3 P32004 UniProtKB Signal peptide 1 19 . . . Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3136168;Dbxref=PMID:3136168 P32004 UniProtKB Chain 20 1257 . . . ID=PRO_0000015022;Note=Neural cell adhesion molecule L1 P32004 UniProtKB Topological domain 20 1120 . . . Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 P32004 UniProtKB Transmembrane 1121 1143 . . . Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 P32004 UniProtKB Topological domain 1144 1257 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 P32004 UniProtKB Domain 35 125 . . . Note=Ig-like C2-type 1 P32004 UniProtKB Domain 139 226 . . . Note=Ig-like C2-type 2 P32004 UniProtKB Domain 240 328 . . . Note=Ig-like C2-type 3 P32004 UniProtKB Domain 333 420 . . . Note=Ig-like C2-type 4 P32004 UniProtKB Domain 425 507 . . . Note=Ig-like C2-type 5 P32004 UniProtKB Domain 518 607 . . . Note=Ig-like C2-type 6 P32004 UniProtKB Domain 615 712 . . . Note=Fibronectin type-III 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 P32004 UniProtKB Domain 717 810 . . . Note=Fibronectin type-III 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 P32004 UniProtKB Domain 814 916 . . . Note=Fibronectin type-III 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 P32004 UniProtKB Domain 920 1015 . . . Note=Fibronectin type-III 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 P32004 UniProtKB Domain 1016 1115 . . . Note=Fibronectin type-III 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00316 P32004 UniProtKB Region 698 725 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P32004 UniProtKB Region 1176 1207 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P32004 UniProtKB Region 1226 1257 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite P32004 UniProtKB Motif 554 556 . . . Note=Cell attachment site;Ontology_term=ECO:0000255;evidence=ECO:0000255 P32004 UniProtKB Modified residue 1163 1163 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:17081983;Dbxref=PMID:17081983 P32004 UniProtKB Modified residue 1178 1178 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P11627 P32004 UniProtKB Modified residue 1181 1181 . . . Note=Phosphoserine%3B by CaMK2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8592152;Dbxref=PMID:8592152 P32004 UniProtKB Modified residue 1194 1194 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:20068231;Dbxref=PMID:20068231 P32004 UniProtKB Modified residue 1243 1243 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:23186163;Dbxref=PMID:23186163 P32004 UniProtKB Modified residue 1244 1244 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P11627 P32004 UniProtKB Modified residue 1248 1248 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:18669648;Dbxref=PMID:18669648 P32004 UniProtKB Glycosylation 100 100 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P32004 UniProtKB Glycosylation 203 203 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P32004 UniProtKB Glycosylation 247 247 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P32004 UniProtKB Glycosylation 294 294 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P32004 UniProtKB Glycosylation 433 433 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P32004 UniProtKB Glycosylation 479 479 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P32004 UniProtKB Glycosylation 490 490 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P32004 UniProtKB Glycosylation 505 505 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P32004 UniProtKB Glycosylation 588 588 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P32004 UniProtKB Glycosylation 671 671 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:19159218;Dbxref=PMID:16335952,PMID:19159218 P32004 UniProtKB Glycosylation 726 726 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P32004 UniProtKB Glycosylation 777 777 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P32004 UniProtKB Glycosylation 825 825 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P32004 UniProtKB Glycosylation 849 849 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P32004 UniProtKB Glycosylation 876 876 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P32004 UniProtKB Glycosylation 979 979 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P32004 UniProtKB Glycosylation 1022 1022 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P32004 UniProtKB Glycosylation 1030 1030 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P32004 UniProtKB Glycosylation 1071 1071 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P32004 UniProtKB Glycosylation 1105 1105 . . . Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 P32004 UniProtKB Disulfide bond 57 114 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 P32004 UniProtKB Disulfide bond 158 209 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 P32004 UniProtKB Disulfide bond 264 312 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 P32004 UniProtKB Disulfide bond 354 404 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 P32004 UniProtKB Disulfide bond 448 497 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 P32004 UniProtKB Disulfide bond 539 591 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 P32004 UniProtKB Alternative sequence 26 31 . . . ID=VSP_046317;Note=In isoform 3. YEGHHV->L;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.6 P32004 UniProtKB Alternative sequence 1177 1180 . . . ID=VSP_002591;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:1627459,ECO:0000303|Ref.6;Dbxref=PMID:1627459 P32004 UniProtKB Natural variant 9 9 . . . ID=VAR_003921;Note=In HYCX. W->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7762552;Dbxref=PMID:7762552 P32004 UniProtKB Natural variant 26 1257 . . . ID=VAR_078350;Note=Found in L1 syndrome%3B likely pathogenic. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19846429;Dbxref=PMID:19846429 P32004 UniProtKB Natural variant 30 30 . . . ID=VAR_030403;Note=H->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10797421;Dbxref=PMID:10797421 P32004 UniProtKB Natural variant 37 37 . . . ID=VAR_078351;Note=Found in L1 syndrome%3B likely pathogenic%3B loss of localization at the cell surface%3B retention in the endoplasmic reticulum%3B loss of homophilic interactions at the cell surface. I->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19846429,ECO:0000269|PubMed:26891472;Dbxref=PMID:19846429,PMID:26891472 P32004 UniProtKB Natural variant 38 38 . . . ID=VAR_078352;Note=No effect on localization at the cell surface. T->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19846429,ECO:0000269|PubMed:26891472;Dbxref=dbSNP:rs201151358,PMID:19846429,PMID:26891472 P32004 UniProtKB Natural variant 66 1257 . . . ID=VAR_078353;Note=Found in L1 syndrome%3B likely pathogenic. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19846429;Dbxref=PMID:19846429 P32004 UniProtKB Natural variant 109 1257 . . . ID=VAR_078354;Note=Found in L1 syndrome%3B likely pathogenic. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19846429;Dbxref=PMID:19846429 P32004 UniProtKB Natural variant 120 120 . . . ID=VAR_078355;Note=No effect on axon guidance activity%2C nor on synapse formation%2C when assayed in a heterologous system. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24155914;Dbxref=dbSNP:rs796052697,PMID:24155914 P32004 UniProtKB Natural variant 121 121 . . . ID=VAR_003922;Note=In HYCX. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7762552;Dbxref=PMID:7762552 P32004 UniProtKB Natural variant 133 1257 . . . ID=VAR_078356;Note=Found in L1 syndrome%3B likely pathogenic. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19846429;Dbxref=PMID:19846429 P32004 UniProtKB Natural variant 138 1257 . . . ID=VAR_078357;Note=Found in L1 syndrome%3B likely pathogenic. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19846429;Dbxref=PMID:19846429 P32004 UniProtKB Natural variant 172 172 . . . ID=VAR_078358;Note=Found in a patient with L1 syndrome%3B likely pathogenic%3B loss of homophilic interactions at the cell surface%3B no effect on the localization at the cell surface. M->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19846429,ECO:0000269|PubMed:26891472;Dbxref=PMID:19846429,PMID:26891472 P32004 UniProtKB Natural variant 179 179 . . . ID=VAR_003923;Note=In HYCX and MASA. I->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19846429,ECO:0000269|PubMed:7562969;Dbxref=dbSNP:rs137852523,PMID:19846429,PMID:7562969 P32004 UniProtKB Natural variant 184 184 . . . ID=VAR_078359;Note=Found in L1 syndrome%3B likely pathogenic. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19846429;Dbxref=PMID:19846429 P32004 UniProtKB Natural variant 184 184 . . . ID=VAR_003924;Note=In HYCX%3B severe%3B reduced axon arborization%3B partial loss of localization at the cell surface%3B retention in the endoplasmic reticulum%3B in neurons%2C restricted to cell bodies and proximal segments of processes%3B loss of axon guidance and of proper synapse formation%2C when assayed in a heterologous system. R->Q;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19846429,ECO:0000269|PubMed:20621658,ECO:0000269|PubMed:24155914,ECO:0000269|PubMed:7920659,ECO:0000269|PubMed:8556302,ECO:0000269|PubMed:9195224;Dbxref=dbSNP:rs137852521,PMID:19846429,PMID:20621658,PMID:24155914,PMID:7920659,PMID:8556302,PMID:9195224 P32004 UniProtKB Natural variant 184 184 . . . ID=VAR_030404;Note=In HYCX. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10797421;Dbxref=PMID:10797421 P32004 UniProtKB Natural variant 187 198 . . . ID=VAR_078360;Note=Found in L1 syndrome%3B likely pathogenic. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19846429;Dbxref=PMID:19846429 P32004 UniProtKB Natural variant 194 194 . . . ID=VAR_003925;Note=In HYCX. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8929944;Dbxref=PMID:8929944 P32004 UniProtKB Natural variant 202 202 . . . ID=VAR_030405;Note=In MASA%3B loss of homophilic interactions at the cell surface%3B no effect on localization at the cell surface. D->Y;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10805190,ECO:0000269|PubMed:19846429,ECO:0000269|PubMed:26891472;Dbxref=PMID:10805190,PMID:19846429,PMID:26891472 P32004 UniProtKB Natural variant 210 210 . . . ID=VAR_003926;Note=In MASA%3B decrease in cell-matrix adhesion%3B decreased cell migration%3B loss of axon guidance and of proper synapse formation%2C when assayed in a heterologous system%3B no effect on the localization at the cell surface%3B no effect on cell proliferation%2C when transfected in pheochromocytoma PC12 cells%3B no effect on neurite outgrowth%2C when assayed in NGF-treated pheochromocytoma PC12 cells. H->Q;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22973895,ECO:0000269|PubMed:24155914,ECO:0000269|PubMed:7920659,ECO:0000269|PubMed:7920660,ECO:0000269|PubMed:8556302;Dbxref=dbSNP:rs28933683,PMID:22973895,PMID:24155914,PMID:7920659,PMID:7920660,PMID:8556302 P32004 UniProtKB Natural variant 219 219 . . . ID=VAR_003927;Note=In HYCX%3B decrease in cell-matrix adhesion%3B decreased cell migration%3B no effect on the localization at the cell surface%3B no effect on cell proliferation%2C when transfected in pheochromocytoma PC12 cells%3B no effect on neurite outgrowth%2C when assayed in NGF-treated pheochromocytoma PC12 cells. I->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22973895,ECO:0000269|PubMed:9744477;Dbxref=PMID:22973895,PMID:9744477 P32004 UniProtKB Natural variant 240 240 . . . ID=VAR_003928;Note=In HYCX and ACCPX. P->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16650080,ECO:0000269|PubMed:8929944;Dbxref=dbSNP:rs137852526,PMID:16650080,PMID:8929944 P32004 UniProtKB Natural variant 254 254 . . . ID=VAR_078361;Note=Found in L1 syndrome%3B likely pathogenic. A->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19846429;Dbxref=PMID:19846429 P32004 UniProtKB Natural variant 264 264 . . . ID=VAR_003929;Note=In HYCX%3B severe%3B loss of localization to the cell surface%3B retention in the endoplasmic reticulum%3B loss of axon guidance%2C when assayed in a heterologous system. C->Y;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12514225,ECO:0000269|PubMed:22973895,ECO:0000269|PubMed:24155914,ECO:0000269|PubMed:8401576,ECO:0000269|PubMed:8556302;Dbxref=dbSNP:rs137852518,PMID:12514225,PMID:22973895,PMID:24155914,PMID:8401576,PMID:8556302 P32004 UniProtKB Natural variant 268 268 . . . ID=VAR_030406;Note=In MASA. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9300653;Dbxref=PMID:9300653 P32004 UniProtKB Natural variant 276 276 . . . ID=VAR_078362;Note=Found in L1 syndrome%3B likely pathogenic. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19846429;Dbxref=dbSNP:rs1131691900,PMID:19846429 P32004 UniProtKB Natural variant 309 309 . . . ID=VAR_003930;Note=In MASA%3B decrease in neurite outgrowth%2C when assayed in NGF-treated pheochromocytoma PC12 cells%3B decrease in cell-matrix adhesion%3B decreased cell migration%3B no effect on axon guidance%2C on subcellular location to synaptic terminals%2C nor on proper synapse formation%2C when assayed in a heterologous system%3B no effect on the localization at the cell surface%3B no effect on cell proliferation%2C when transfected in pheochromocytoma PC12 cells. E->K;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22973895,ECO:0000269|PubMed:24155914,ECO:0000269|PubMed:7762552;Dbxref=dbSNP:rs367665974,PMID:22973895,PMID:24155914,PMID:7762552 P32004 UniProtKB Natural variant 313 313 . . . ID=VAR_078363;Note=Found in L1 syndrome%3B likely pathogenic. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19846429;Dbxref=PMID:19846429 P32004 UniProtKB Natural variant 335 335 . . . ID=VAR_030407;Note=In HYCX. W->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10797421;Dbxref=PMID:10797421 P32004 UniProtKB Natural variant 335 335 . . . ID=VAR_003931;Note=In HYCX and MASA%3B also in a patient with hydrocephalus and Hirschsprung disease. W->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19846429,ECO:0000269|PubMed:9744477;Dbxref=PMID:19846429,PMID:9744477 P32004 UniProtKB Natural variant 366 1257 . . . ID=VAR_078364;Note=Found in L1 syndrome%3B likely pathogenic. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19846429;Dbxref=PMID:19846429 P32004 UniProtKB Natural variant 369 369 . . . ID=VAR_078365;Note=Found in L1 syndrome%3B likely pathogenic. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19846429;Dbxref=PMID:19846429 P32004 UniProtKB Natural variant 370 370 . . . ID=VAR_003932;Note=In HYCX and MASA. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10797421,ECO:0000269|PubMed:7562969;Dbxref=dbSNP:rs137852524,PMID:10797421,PMID:7562969 P32004 UniProtKB Natural variant 386 386 . . . ID=VAR_003933;Note=In HYCX. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9744477;Dbxref=dbSNP:rs1557092299,PMID:9744477 P32004 UniProtKB Natural variant 408 408 . . . ID=VAR_030408;Note=In HYCX. N->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10797421;Dbxref=PMID:10797421 P32004 UniProtKB Natural variant 415 415 . . . ID=VAR_027512;Note=In HYCX. A->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12435569,ECO:0000269|PubMed:19846429;Dbxref=PMID:12435569,PMID:19846429 P32004 UniProtKB Natural variant 421 421 . . . ID=VAR_030409;Note=In HYCX. V->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10797421;Dbxref=PMID:10797421 P32004 UniProtKB Natural variant 423 1257 . . . ID=VAR_078366;Note=Found in L1 syndrome%3B likely pathogenic. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19846429;Dbxref=PMID:19846429 P32004 UniProtKB Natural variant 426 426 . . . ID=VAR_030410;Note=In MASA. A->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9300653;Dbxref=PMID:9300653 P32004 UniProtKB Natural variant 439 443 . . . ID=VAR_003934;Note=In HYCX. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9195224;Dbxref=PMID:9195224 P32004 UniProtKB Natural variant 452 452 . . . ID=VAR_003935;Note=In HYCX%3B severe. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7920659,ECO:0000269|PubMed:8556302;Dbxref=dbSNP:rs137852520,PMID:7920659,PMID:8556302 P32004 UniProtKB Natural variant 473 473 . . . ID=VAR_003936;Note=In HYCX and MASA. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9744477;Dbxref=dbSNP:rs886039408,PMID:9744477 P32004 UniProtKB Natural variant 480 480 . . . ID=VAR_078367;Note=Found in L1 syndrome%3B likely pathogenic. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19846429;Dbxref=PMID:19846429 P32004 UniProtKB Natural variant 482 482 . . . ID=VAR_030411;Note=In MASA. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9268105;Dbxref=dbSNP:rs1064794246,PMID:9268105 P32004 UniProtKB Natural variant 497 497 . . . ID=VAR_030412;Note=In HYCX. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10797421;Dbxref=PMID:10797421 P32004 UniProtKB Natural variant 516 516 . . . ID=VAR_078368;Note=Found in a patient with L1 syndrome%3B uncertain significance. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19846429;Dbxref=dbSNP:rs782367931,PMID:19846429 P32004 UniProtKB Natural variant 516 516 . . . ID=VAR_078369;Note=Found in a patient with L1 syndrome%3B uncertain significance. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19846429;Dbxref=PMID:19846429 P32004 UniProtKB Natural variant 525 525 . . . ID=VAR_078370;Note=Found in a patient with L1 syndrome%3B uncertain significance. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19846429;Dbxref=dbSNP:rs782401498,PMID:19846429 P32004 UniProtKB Natural variant 526 526 . . . ID=VAR_030413;Note=In HYCX. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9268105;Dbxref=PMID:9268105 P32004 UniProtKB Natural variant 542 542 . . . ID=VAR_030414;Note=In HYCX. S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9268105;Dbxref=PMID:9268105 P32004 UniProtKB Natural variant 598 598 . . . ID=VAR_003937;Note=In MASA. D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7920660,ECO:0000269|PubMed:8556302;Dbxref=dbSNP:rs137852519,PMID:7920660,PMID:8556302 P32004 UniProtKB Natural variant 627 627 . . . ID=VAR_078371;Note=T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19846429;Dbxref=dbSNP:rs398123360,PMID:19846429 P32004 UniProtKB Natural variant 632 632 . . . ID=VAR_003938;Note=In MASA. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9452110;Dbxref=PMID:9452110 P32004 UniProtKB Natural variant 635 635 . . . ID=VAR_078372;Note=Found in L1 syndrome%3B likely pathogenic%3B loss of localization at the cell surface%3B retention in the endoplasmic reticulum%3B loss of transport into axons%3B loss of neurite outgrowth%3B loss of cell-cell adhesion. W->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22222883;Dbxref=PMID:22222883 P32004 UniProtKB Natural variant 645 645 . . . ID=VAR_078373;Note=Found in L1 syndrome%3B likely pathogenic%3B requires 2 nucleotide substitutions. I->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19846429;Dbxref=PMID:19846429 P32004 UniProtKB Natural variant 655 655 . . . ID=VAR_030415;Note=In HYCX. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9118141;Dbxref=dbSNP:rs1375788131,PMID:9118141 P32004 UniProtKB Natural variant 662 1257 . . . ID=VAR_078374;Note=Found in L1 syndrome%3B likely pathogenic. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19846429;Dbxref=PMID:19846429 P32004 UniProtKB Natural variant 674 674 . . . ID=VAR_027513;Note=In HYCX. S->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9832035;Dbxref=PMID:9832035 P32004 UniProtKB Natural variant 691 691 . . . ID=VAR_003939;Note=In HYCX and MASA. A->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:9521424,ECO:0000269|PubMed:9832035;Dbxref=PMID:9521424,PMID:9832035 P32004 UniProtKB Natural variant 691 691 . . . ID=VAR_030416;Note=In HYCX. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10797421;Dbxref=PMID:10797421 P32004 UniProtKB Natural variant 698 698 . . . ID=VAR_003940;Note=In HYCX and MASA%3B also found in a patient affected by hydrocephalus with Hirschsprung disease. G->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22344793,ECO:0000269|PubMed:9521424,ECO:0000269|PubMed:9832035;Dbxref=dbSNP:rs886039409,PMID:22344793,PMID:9521424,PMID:9832035 P32004 UniProtKB Natural variant 714 714 . . . ID=VAR_078375;Note=Found in L1 syndrome%3B likely pathogenic. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19846429;Dbxref=PMID:19846429 P32004 UniProtKB Natural variant 739 739 . . . ID=VAR_030417;Note=R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10797421;Dbxref=dbSNP:rs142424573,PMID:10797421 P32004 UniProtKB Natural variant 741 741 . . . ID=VAR_030418;Note=In HYCX. M->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9268105;Dbxref=dbSNP:rs1557091083,PMID:9268105 P32004 UniProtKB Natural variant 751 751 . . . ID=VAR_030419;Note=In HYCX. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10797421;Dbxref=PMID:10797421 P32004 UniProtKB Natural variant 752 752 . . . ID=VAR_014421;Note=In HYCX and MASA%3B also found in a patient with the diagnosis of L1 syndrome%3B also in a patient with hydrocephalus and Hirschsprung disease. V->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11857550,ECO:0000269|PubMed:19846429,ECO:0000269|PubMed:9268105;Dbxref=dbSNP:rs137852525,PMID:11857550,PMID:19846429,PMID:9268105 P32004 UniProtKB Natural variant 754 754 . . . ID=VAR_078376;Note=Found in L1 syndrome%3B likely pathogenic. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19846429;Dbxref=PMID:19846429 P32004 UniProtKB Natural variant 760 1257 . . . ID=VAR_078377;Note=Found in L1 syndrome%3B likely pathogenic. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19846429;Dbxref=PMID:19846429 P32004 UniProtKB Natural variant 768 768 . . . ID=VAR_003941;Note=In HYCX. V->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7762552;Dbxref=PMID:7762552 P32004 UniProtKB Natural variant 768 768 . . . ID=VAR_030420;Note=Decreased cell-cell adhesion%3B no effect on subcellular localization%3B no effect on neurite outgrowth. V->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22222883,ECO:0000269|PubMed:9268105;Dbxref=dbSNP:rs36021462,PMID:22222883,PMID:9268105 P32004 UniProtKB Natural variant 770 770 . . . ID=VAR_027514;Note=In MASA. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16816908;Dbxref=dbSNP:rs148516831,PMID:16816908 P32004 UniProtKB Natural variant 784 784 . . . ID=VAR_003942;Note=In HYCX. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9195224;Dbxref=dbSNP:rs797045674,PMID:9195224 P32004 UniProtKB Natural variant 789 1257 . . . ID=VAR_078378;Note=Found in L1 syndrome%3B likely pathogenic. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19846429,ECO:0000269|PubMed:26891472;Dbxref=PMID:19846429,PMID:26891472 P32004 UniProtKB Natural variant 811 1257 . . . ID=VAR_078379;Note=Found in L1 syndrome%3B likely pathogenic. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19846429;Dbxref=PMID:19846429 P32004 UniProtKB Natural variant 891 1257 . . . ID=VAR_078380;Note=Found in L1 syndrome%3B likely pathogenic. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19846429;Dbxref=PMID:19846429 P32004 UniProtKB Natural variant 901 1257 . . . ID=VAR_078381;Note=Found in L1 syndrome%3B likely pathogenic. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19846429;Dbxref=PMID:19846429 P32004 UniProtKB Natural variant 935 935 . . . ID=VAR_003943;Note=In HYCX. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9521424;Dbxref=PMID:9521424 P32004 UniProtKB Natural variant 936 948 . . . ID=VAR_003944;Note=In HYCX. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9195224;Dbxref=PMID:9195224 P32004 UniProtKB Natural variant 941 941 . . . ID=VAR_003945;Note=In HYCX and MASA%3B decrease in neurite outgrowth%2C when assayed in NGF-treated pheochromocytoma PC12 cells%3B decrease in cell-matrix adhesion%3B decreased cell migration%3B no effect on the localization at the cell surface%3B no effect on cell proliferation%2C when transfected in pheochromocytoma PC12 cells. P->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22973895,ECO:0000269|PubMed:7762552;Dbxref=PMID:22973895,PMID:7762552 P32004 UniProtKB Natural variant 958 958 . . . ID=VAR_059413;Note=L->V;Dbxref=dbSNP:rs35902890 P32004 UniProtKB Natural variant 1036 1036 . . . ID=VAR_078382;Note=In HYCX%3B partial loss of localization at the cell surface%3B retention in the endoplasmic reticulum%3B in neurons%2C partial loss of localization to axons%2C but enriched on proximal dendrites. W->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20621658;Dbxref=PMID:20621658 P32004 UniProtKB Natural variant 1064 1257 . . . ID=VAR_078383;Note=Found in L1 syndrome%3B likely pathogenic. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19846429;Dbxref=PMID:19846429 P32004 UniProtKB Natural variant 1070 1070 . . . ID=VAR_003946;Note=In HYCX%3B partial loss of axon guidance and loss of proper synapse formation%2C when assayed in a heterologous system. Y->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24155914,ECO:0000269|PubMed:7762552;Dbxref=PMID:24155914,PMID:7762552 P32004 UniProtKB Natural variant 1071 1071 . . . ID=VAR_078384;Note=Found in L1 syndrome%3B likely pathogenic. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19846429;Dbxref=PMID:19846429 P32004 UniProtKB Natural variant 1080 1080 . . . ID=VAR_078385;Note=Found in L1 syndrome%3B likely pathogenic. L->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19846429;Dbxref=PMID:19846429 P32004 UniProtKB Natural variant 1194 1194 . . . ID=VAR_003947;Note=In HYCX and MASA. S->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7881431,ECO:0000269|PubMed:8556302;Dbxref=dbSNP:rs137852522,PMID:7881431,PMID:8556302 P32004 UniProtKB Natural variant 1224 1224 . . . ID=VAR_003948;Note=In HYCX. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9744477;Dbxref=PMID:9744477 P32004 UniProtKB Natural variant 1239 1239 . . . ID=VAR_030421;Note=G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10797421;Dbxref=PMID:10797421 P32004 UniProtKB Mutagenesis 1147 1153 . . . Note=Loss of axon guidance%2C when assayed in a heterologous system%2C but normal synapse formation. KGGKYSV->AGGAASA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24155914;Dbxref=PMID:24155914 P32004 UniProtKB Sequence conflict 4 4 . . . Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 P32004 UniProtKB Sequence conflict 216 216 . . . Note=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 P32004 UniProtKB Sequence conflict 250 250 . . . Note=S->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 P32004 UniProtKB Sequence conflict 276 277 . . . Note=WL->SV;Ontology_term=ECO:0000305;evidence=ECO:0000305 P32004 UniProtKB Sequence conflict 288 288 . . . Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 P32004 UniProtKB Sequence conflict 357 357 . . . Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 P32004 UniProtKB Sequence conflict 515 515 . . . Note=K->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 P32004 UniProtKB Sequence conflict 626 626 . . . Note=L->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 P32004 UniProtKB Sequence conflict 660 660 . . . Note=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 P32004 UniProtKB Sequence conflict 936 936 . . . Note=L->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 P32004 UniProtKB Sequence conflict 1116 1117 . . . Note=GF->WLC;Ontology_term=ECO:0000305;evidence=ECO:0000305 P32004 UniProtKB Sequence conflict 1164 1164 . . . Note=E->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 P32004 UniProtKB Modified residue 1177 1177 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:21406692;Dbxref=PMID:20068231,PMID:21406692 P32004 UniProtKB Modified residue 1172 1172 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:20068231,ECO:0007744|PubMed:21406692;Dbxref=PMID:20068231,PMID:21406692