##gff-version 3
P49768	UniProtKB	Chain	1	298	.	.	.	ID=PRO_0000025591;Note=Presenilin-1 NTF subunit	
P49768	UniProtKB	Chain	299	467	.	.	.	ID=PRO_0000025592;Note=Presenilin-1 CTF subunit	
P49768	UniProtKB	Chain	346	467	.	.	.	ID=PRO_0000236055;Note=Presenilin-1 CTF12	
P49768	UniProtKB	Topological domain	1	82	.	.	.	Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26280335;Dbxref=PMID:26280335	
P49768	UniProtKB	Transmembrane	83	103	.	.	.	Note=Helical;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26280335;Dbxref=PMID:26280335	
P49768	UniProtKB	Topological domain	104	132	.	.	.	Note=Lumenal;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26280335;Dbxref=PMID:26280335	
P49768	UniProtKB	Transmembrane	133	153	.	.	.	Note=Helical;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26280335;Dbxref=PMID:26280335	
P49768	UniProtKB	Topological domain	154	166	.	.	.	Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26280335;Dbxref=PMID:26280335	
P49768	UniProtKB	Transmembrane	167	189	.	.	.	Note=Helical;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26280335;Dbxref=PMID:26280335	
P49768	UniProtKB	Topological domain	190	194	.	.	.	Note=Lumenal;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26280335;Dbxref=PMID:26280335	
P49768	UniProtKB	Transmembrane	195	216	.	.	.	Note=Helical;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26280335;Dbxref=PMID:26280335	
P49768	UniProtKB	Topological domain	217	220	.	.	.	Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26280335;Dbxref=PMID:26280335	
P49768	UniProtKB	Transmembrane	221	241	.	.	.	Note=Helical;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26280335;Dbxref=PMID:26280335	
P49768	UniProtKB	Topological domain	242	248	.	.	.	Note=Lumenal;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26280335;Dbxref=PMID:26280335	
P49768	UniProtKB	Transmembrane	249	272	.	.	.	Note=Helical;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26280335;Dbxref=PMID:26280335	
P49768	UniProtKB	Topological domain	273	380	.	.	.	Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26280335;Dbxref=PMID:26280335	
P49768	UniProtKB	Transmembrane	381	401	.	.	.	Note=Helical;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26280335;Dbxref=PMID:26280335	
P49768	UniProtKB	Topological domain	402	407	.	.	.	Note=Lumenal;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26280335;Dbxref=PMID:26280335	
P49768	UniProtKB	Transmembrane	408	428	.	.	.	Note=Helical;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26280335;Dbxref=PMID:26280335	
P49768	UniProtKB	Topological domain	429	432	.	.	.	Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26280335;Dbxref=PMID:26280335	
P49768	UniProtKB	Transmembrane	433	453	.	.	.	Note=Helical;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26280335;Dbxref=PMID:26280335	
P49768	UniProtKB	Topological domain	454	467	.	.	.	Note=Lumenal;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26280335;Dbxref=PMID:26280335	
P49768	UniProtKB	Region	13	68	.	.	.	Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite	
P49768	UniProtKB	Region	288	290	.	.	.	Note=Important for cleavage of target proteins;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30598546;Dbxref=PMID:30598546	
P49768	UniProtKB	Region	305	333	.	.	.	Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite	
P49768	UniProtKB	Region	322	450	.	.	.	Note=Required for interaction with CTNNB1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9738936;Dbxref=PMID:9738936	
P49768	UniProtKB	Region	372	399	.	.	.	Note=Required for interaction with CTNND2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10037471;Dbxref=PMID:10037471	
P49768	UniProtKB	Region	377	381	.	.	.	Note=Important for cleavage of target proteins;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30598546;Dbxref=PMID:30598546	
P49768	UniProtKB	Region	432	434	.	.	.	Note=Important for cleavage of target proteins;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30598546;Dbxref=PMID:30598546	
P49768	UniProtKB	Region	464	467	.	.	.	Note=Interaction with MTCH1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10551805;Dbxref=PMID:10551805	
P49768	UniProtKB	Motif	433	435	.	.	.	Note=PAL;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:16305624;Dbxref=PMID:16305624	
P49768	UniProtKB	Compositional bias	13	27	.	.	.	Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite	
P49768	UniProtKB	Compositional bias	28	47	.	.	.	Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite	
P49768	UniProtKB	Compositional bias	305	329	.	.	.	Note=Basic and acidic residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite	
P49768	UniProtKB	Active site	257	257	.	.	.	Ontology_term=ECO:0000305,ECO:0000305,ECO:0000305;evidence=ECO:0000305|PubMed:10206644,ECO:0000305|PubMed:10899933,ECO:0000305|PubMed:15341515;Dbxref=PMID:10206644,PMID:10899933,PMID:15341515	
P49768	UniProtKB	Active site	385	385	.	.	.	Ontology_term=ECO:0000305,ECO:0000305,ECO:0000305,ECO:0000305,ECO:0000305;evidence=ECO:0000305|PubMed:10206644,ECO:0000305|PubMed:10899933,ECO:0000305|PubMed:15341515,ECO:0000305|PubMed:30598546,ECO:0000305|PubMed:30630874;Dbxref=PMID:10206644,PMID:10899933,PMID:15341515,PMID:30598546,PMID:30630874	
P49768	UniProtKB	Site	291	292	.	.	.	Note=Cleavage%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9173929;Dbxref=PMID:9173929	
P49768	UniProtKB	Site	292	293	.	.	.	Note=Cleavage%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9173929;Dbxref=PMID:9173929	
P49768	UniProtKB	Site	298	299	.	.	.	Note=Cleavage;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9173929;Dbxref=PMID:9173929	
P49768	UniProtKB	Site	345	346	.	.	.	Note=Cleavage%3B by caspase;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9485372;Dbxref=PMID:9485372	
P49768	UniProtKB	Modified residue	43	43	.	.	.	Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:17081983,ECO:0007744|PubMed:21406692,ECO:0007744|PubMed:23186163;Dbxref=PMID:17081983,PMID:21406692,PMID:23186163	
P49768	UniProtKB	Modified residue	51	51	.	.	.	Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P97887	
P49768	UniProtKB	Modified residue	310	310	.	.	.	Note=Phosphoserine%3B by PKA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14576165;Dbxref=PMID:14576165	
P49768	UniProtKB	Modified residue	346	346	.	.	.	Note=Phosphoserine%3B by PKC;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14576165;Dbxref=PMID:14576165	
P49768	UniProtKB	Modified residue	367	367	.	.	.	Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:21406692,ECO:0007744|PubMed:23186163;Dbxref=PMID:21406692,PMID:23186163	
P49768	UniProtKB	Alternative sequence	26	29	.	.	.	ID=VSP_005191;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:7596406,ECO:0000303|PubMed:8641442;Dbxref=PMID:15489334,PMID:7596406,PMID:8641442	
P49768	UniProtKB	Alternative sequence	162	184	.	.	.	ID=VSP_007986;Note=In isoform 4. IHAWLIISSLLLLFFFSFIYLGE->SMRHRSLLSTLFFLWLGILVTVT;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3	
P49768	UniProtKB	Alternative sequence	185	467	.	.	.	ID=VSP_007987;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3	
P49768	UniProtKB	Alternative sequence	257	289	.	.	.	ID=VSP_041440;Note=In isoform 7. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305	
P49768	UniProtKB	Alternative sequence	319	467	.	.	.	ID=VSP_005192;Note=In isoform 3 and isoform 5. STERESQDTVAENDDGGFSEEWEAQRDSHLGPHRSTPESRAAVQELSSSILAGEDPEERGVKLGLGDFIFYSVLVGKASATASGDWNTTIACFVAILIGLCLTLLLLAIFKKALPALPISITFGLVFYFATDYLVQPFMDQLAFHQFYI->RACLPPAAINLLSIAPMAPRLFMPKGACRPTAQKGSHKTLLQRMMMAGSVRNGKPRGTVI;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:8641442,ECO:0000303|Ref.5;Dbxref=PMID:8641442	
P49768	UniProtKB	Alternative sequence	319	376	.	.	.	ID=VSP_012288;Note=In isoform 6. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305	
P49768	UniProtKB	Natural variant	35	35	.	.	.	ID=VAR_075260;Note=In AD3%3B uncertain significance%3B decreased protease activity with APP. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11524469,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63750592,PMID:11524469,PMID:27930341	
P49768	UniProtKB	Natural variant	79	79	.	.	.	ID=VAR_006413;Note=In AD3%3B also found in late-onset Alzheimer disease%3B impaired protease activity with APP%3B results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio%3B no effect on interaction with GFAP. A->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10631141,ECO:0000269|PubMed:11524469,ECO:0000269|PubMed:12058025,ECO:0000269|PubMed:16752394,ECO:0000269|PubMed:17366635,ECO:0000269|PubMed:27930341,ECO:0000269|PubMed:9384602;Dbxref=dbSNP:rs63749824,PMID:10631141,PMID:11524469,PMID:12058025,PMID:16752394,PMID:17366635,PMID:27930341,PMID:9384602	
P49768	UniProtKB	Natural variant	82	82	.	.	.	ID=VAR_006414;Note=In AD3%3B decreased protease activity with APP%3B no effect on interaction with GFAP. V->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10441572,ECO:0000269|PubMed:12058025,ECO:0000269|PubMed:27930341,ECO:0000269|PubMed:8634712;Dbxref=dbSNP:rs63749967,PMID:10441572,PMID:12058025,PMID:27930341,PMID:8634712	
P49768	UniProtKB	Natural variant	83	83	.	.	.	ID=VAR_075261;Note=In AD3. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26145164;Dbxref=PMID:26145164	
P49768	UniProtKB	Natural variant	85	85	.	.	.	ID=VAR_081228;Note=In AD3%3B the patient also manifest spastic paraparesis and apraxia%3B loss of protease activity with APP in vitro%3B altered amyloid-beta production in cells transfected with the mutant and increased amyloid-beta 42/amyloid-beta 40 ratio. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15534188,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63750599,PMID:15534188,PMID:27930341	
P49768	UniProtKB	Natural variant	89	89	.	.	.	ID=VAR_081229;Note=In AD3%3B decreased protease activity with APP%3B increased amyloid-beta 42/amyloid-beta 40 ratio. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11796781;Dbxref=dbSNP:rs63750815,PMID:11796781	
P49768	UniProtKB	Natural variant	92	92	.	.	.	ID=VAR_016214;Note=In AD3%3B loss of protease activity with APP. C->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11027672,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63751141,PMID:11027672,PMID:27930341	
P49768	UniProtKB	Natural variant	94	94	.	.	.	ID=VAR_081230;Note=In AD3%3B uncertain significance%3B reduced protease activity with APP%3B no relevant change in amyloid-beta 42/amyloid-beta 40 ratio. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11568920;Dbxref=dbSNP:rs63750831,PMID:11568920	
P49768	UniProtKB	Natural variant	96	96	.	.	.	ID=VAR_006415;Note=In AD3%3B loss of protease activity with APP. V->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:27930341,ECO:0000269|PubMed:8733303;Dbxref=dbSNP:rs63750601,PMID:27930341,PMID:8733303	
P49768	UniProtKB	Natural variant	97	97	.	.	.	ID=VAR_081231;Note=In AD3%3B uncertain significance%3B slightly reduced protease activity with APP. V->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15851849,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63750852,PMID:15851849,PMID:27930341	
P49768	UniProtKB	Natural variant	105	105	.	.	.	ID=VAR_009208;Note=In AD3. F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10631141;Dbxref=dbSNP:rs63750321,PMID:10631141	
P49768	UniProtKB	Natural variant	113	113	.	.	.	ID=VAR_016215;Note=In frontotemporal dementia. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11094121;Dbxref=dbSNP:rs63751399,PMID:11094121	
P49768	UniProtKB	Natural variant	115	115	.	.	.	ID=VAR_006416;Note=In AD3. Y->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11524469,ECO:0000269|PubMed:12552037,ECO:0000269|PubMed:9384602;Dbxref=dbSNP:rs63750450,PMID:11524469,PMID:12552037,PMID:9384602	
P49768	UniProtKB	Natural variant	115	115	.	.	.	ID=VAR_006417;Note=In AD3%3B impaired protease activity with APP and increased amyloid-beta 42/amyloid-beta 40 ratio. Y->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10441572,ECO:0000269|PubMed:27930341,ECO:0000269|PubMed:8634712;Dbxref=PMID:10441572,PMID:27930341,PMID:8634712	
P49768	UniProtKB	Natural variant	116	116	.	.	.	ID=VAR_081232;Note=In AD3. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30200536;Dbxref=dbSNP:rs63750730,PMID:30200536	
P49768	UniProtKB	Natural variant	116	116	.	.	.	ID=VAR_010120;Note=In AD3%3B unusual amyloid cotton wool plaques detected in one patient's brain%3B severe decrease of protease activity with APP%3B results in increased amyloid-beta 42/amyloid-beta 40 ratio. T->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10439444,ECO:0000269|PubMed:11524469,ECO:0000269|PubMed:27930341,ECO:0000269|PubMed:29404783;Dbxref=dbSNP:rs63750730,PMID:10439444,PMID:11524469,PMID:27930341,PMID:29404783	
P49768	UniProtKB	Natural variant	117	117	.	.	.	ID=VAR_009209;Note=In AD3%3B impaired ability to cleave Ephb2/CTF1%3B results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio%3B impaired regulation of neurite outgrowth. P->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15004326,ECO:0000269|PubMed:17428795,ECO:0000269|PubMed:9507958;Dbxref=dbSNP:rs63749805,PMID:15004326,PMID:17428795,PMID:9507958	
P49768	UniProtKB	Natural variant	117	117	.	.	.	ID=VAR_081233;Note=In AD3%3B results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio%3B impaired regulation of neurite outgrowth. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15004326;Dbxref=dbSNP:rs63750550,PMID:15004326	
P49768	UniProtKB	Natural variant	120	120	.	.	.	ID=VAR_006418;Note=In AD3%3B impaired protease activity with APP and increased amyloid-beta 42/amyloid-beta 40 ratio. E->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10441572,ECO:0000269|PubMed:27930341,ECO:0000269|PubMed:9521423;Dbxref=dbSNP:rs63751272,PMID:10441572,PMID:27930341,PMID:9521423	
P49768	UniProtKB	Natural variant	120	120	.	.	.	ID=VAR_006419;Note=In AD3%3B impaired protease activity with APP and increased amyloid-beta 42/amyloid-beta 40 ratio. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63750800,PMID:27930341	
P49768	UniProtKB	Natural variant	134	134	.	.	.	ID=VAR_070023;Note=In AD3%3B uncertain significance%3B loss of protease activity with APP. L->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22503161,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs1595002439,PMID:22503161,PMID:27930341	
P49768	UniProtKB	Natural variant	135	135	.	.	.	ID=VAR_010121;Note=In AD3%3B impaired protease activity with APP and increased amyloid-beta 42/amyloid-beta 40 ratio. N->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:27930341,ECO:0000269|PubMed:9225696;Dbxref=dbSNP:rs63750353,PMID:27930341,PMID:9225696	
P49768	UniProtKB	Natural variant	139	139	.	.	.	ID=VAR_006420;Note=In AD3. M->I;Dbxref=dbSNP:rs63750522	
P49768	UniProtKB	Natural variant	139	139	.	.	.	ID=VAR_010122;Note=In AD3. M->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9719376;Dbxref=dbSNP:rs63751106,PMID:9719376	
P49768	UniProtKB	Natural variant	139	139	.	.	.	ID=VAR_006421;Note=In AD3. M->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10441572,ECO:0000269|PubMed:8634712;Dbxref=dbSNP:rs63751106,PMID:10441572,PMID:8634712	
P49768	UniProtKB	Natural variant	139	139	.	.	.	ID=VAR_006422;Note=In AD3%3B increased amyloid-beta 42/amyloid-beta 40 ratio. M->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10631141,ECO:0000269|PubMed:27930341,ECO:0000269|PubMed:7550356;Dbxref=dbSNP:rs63751037,PMID:10631141,PMID:27930341,PMID:7550356	
P49768	UniProtKB	Natural variant	142	142	.	.	.	ID=VAR_081234;Note=In AD3%3B uncertain significance. V->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29175279;Dbxref=PMID:29175279	
P49768	UniProtKB	Natural variant	143	143	.	.	.	ID=VAR_006423;Note=In AD3. I->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10090481;Dbxref=dbSNP:rs63750322,PMID:10090481	
P49768	UniProtKB	Natural variant	143	143	.	.	.	ID=VAR_006424;Note=In AD3%3B impaired protease activity with APP%3B results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. I->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11524469,ECO:0000269|PubMed:11568920,ECO:0000269|PubMed:15122701,ECO:0000269|PubMed:16752394,ECO:0000269|PubMed:27930341,ECO:0000269|PubMed:8634711;Dbxref=dbSNP:rs63750004,PMID:11524469,PMID:11568920,PMID:15122701,PMID:16752394,PMID:27930341,PMID:8634711	
P49768	UniProtKB	Natural variant	146	146	.	.	.	ID=VAR_006425;Note=In AD3. M->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11524469,ECO:0000269|PubMed:12552037;Dbxref=dbSNP:rs63750391,PMID:11524469,PMID:12552037	
P49768	UniProtKB	Natural variant	146	146	.	.	.	ID=VAR_006426;Note=In AD3%3B disease phenotype shows high clinical variability%3B founder mutation originating from Southern Italy and distributed worldwide%3B alters the conformation of the active site%3B slightly increased protease activity with APP%3B decreased activity for Notch1 cleavage%3B no loss of its ability to cleave Ephb2/CTF1. M->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10441572,ECO:0000269|PubMed:11524469,ECO:0000269|PubMed:17428795,ECO:0000269|PubMed:20164095,ECO:0000269|PubMed:22461631,ECO:0000269|PubMed:27930341,ECO:0000269|PubMed:7596406;Dbxref=dbSNP:rs63750306,PMID:10441572,PMID:11524469,PMID:17428795,PMID:20164095,PMID:22461631,PMID:27930341,PMID:7596406	
P49768	UniProtKB	Natural variant	146	146	.	.	.	ID=VAR_006427;Note=In AD3%3B loss of function as calcium-leak channel%3B results in calcium overload in the endoplasmic reticulum. M->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11524469,ECO:0000269|PubMed:16959576,ECO:0000269|PubMed:7550356;Dbxref=dbSNP:rs63750306,PMID:11524469,PMID:16959576,PMID:7550356	
P49768	UniProtKB	Natural variant	147	147	.	.	.	ID=VAR_010123;Note=In AD3%3B results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. T->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10441572,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63750907,PMID:10441572,PMID:27930341	
P49768	UniProtKB	Natural variant	153	153	.	.	.	ID=VAR_081235;Note=In AD3%3B abolishes protease activity with APP resulting in decreased amyloid-beta 42 and amyloid-beta 40 production. L->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12552037,ECO:0000269|PubMed:24495933,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63751441,PMID:12552037,PMID:24495933,PMID:27930341	
P49768	UniProtKB	Natural variant	154	154	.	.	.	ID=VAR_081236;Note=In AD3%3B uncertain significance. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12552037;Dbxref=dbSNP:rs63751292,PMID:12552037	
P49768	UniProtKB	Natural variant	154	154	.	.	.	ID=VAR_081237;Note=In AD3%3B disease phenotype includes spastic paraparesis%3B abolishes protease activity with APP resulting in decreased amyloid-beta 42 and amyloid-beta 40 production. Y->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15364419,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63750588,PMID:15364419,PMID:27930341	
P49768	UniProtKB	Natural variant	156	156	.	.	.	ID=VAR_075262;Note=In AD3%3B uncertain significance. Y->FTY;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11524469;Dbxref=PMID:11524469	
P49768	UniProtKB	Natural variant	159	159	.	.	.	ID=VAR_081238;Note=In AD3%3B uncertain significance. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23123781;Dbxref=dbSNP:rs778630379,PMID:23123781	
P49768	UniProtKB	Natural variant	163	163	.	.	.	ID=VAR_006428;Note=In AD3%3B abolishes protease activity with APP%3B decreased activity for Notch cleavage. H->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10441572,ECO:0000269|PubMed:11524469,ECO:0000269|PubMed:22461631,ECO:0000269|PubMed:22503161,ECO:0000269|PubMed:27930341,ECO:0000269|PubMed:7596406,ECO:0000269|PubMed:8634712,ECO:0000269|PubMed:8733303,ECO:0000269|PubMed:9521423;Dbxref=dbSNP:rs63750590,PMID:10441572,PMID:11524469,PMID:22461631,PMID:22503161,PMID:27930341,PMID:7596406,PMID:8634712,PMID:8733303,PMID:9521423	
P49768	UniProtKB	Natural variant	163	163	.	.	.	ID=VAR_006429;Note=In AD3%3B slightly increased protease activity with APP and slightly increased amyloid-beta 42 production. H->Y;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:27930341,ECO:0000269|PubMed:7550356;Dbxref=dbSNP:rs63749885,PMID:27930341,PMID:7550356	
P49768	UniProtKB	Natural variant	165	165	.	.	.	ID=VAR_010124;Note=In AD3. W->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10441572;Dbxref=dbSNP:rs63751484,PMID:10441572	
P49768	UniProtKB	Natural variant	166	166	.	.	.	ID=VAR_016216;Note=In AD3%3B onset in adolescence%3B severe decrease of protease activity with APP%3B results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio%3B results in reduced Notch proteolysis. L->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12048239,ECO:0000269|PubMed:22529981,ECO:0000269|PubMed:23843529,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63750265,PMID:12048239,PMID:22529981,PMID:23843529,PMID:27930341	
P49768	UniProtKB	Natural variant	168	168	.	.	.	ID=VAR_081239;Note=In AD3%3B uncertain significance%3B abolishes protease activity with APP resulting in decreased amyloid-beta 42 and amyloid-beta 40 production. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12552037;Dbxref=PMID:12552037	
P49768	UniProtKB	Natural variant	169	169	.	.	.	ID=VAR_006430;Note=In AD3. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9831473;Dbxref=dbSNP:rs63751210,PMID:9831473	
P49768	UniProtKB	Natural variant	169	169	.	.	.	ID=VAR_006431;Note=In AD3%3B results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. S->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10025789,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63750418,PMID:10025789,PMID:27930341	
P49768	UniProtKB	Natural variant	170	170	.	.	.	ID=VAR_081240;Note=In AD3%3B results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. S->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16344340,ECO:0000269|PubMed:17502474,ECO:0000269|PubMed:27930341,ECO:0000269|PubMed:29466804;Dbxref=dbSNP:rs63750577,PMID:16344340,PMID:17502474,PMID:27930341,PMID:29466804	
P49768	UniProtKB	Natural variant	171	171	.	.	.	ID=VAR_006432;Note=In AD3%3B abolishes protease activity with APP. L->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12552037,ECO:0000269|PubMed:27930341,ECO:0000269|PubMed:9833068;Dbxref=dbSNP:rs63750963,PMID:12552037,PMID:27930341,PMID:9833068	
P49768	UniProtKB	Natural variant	173	173	.	.	.	ID=VAR_010125;Note=In AD3%3B results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. L->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10441572,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63750299,PMID:10441572,PMID:27930341	
P49768	UniProtKB	Natural variant	174	174	.	.	.	ID=VAR_016217;Note=In AD3%3B results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. L->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12484344,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63751144,PMID:12484344,PMID:27930341	
P49768	UniProtKB	Natural variant	177	177	.	.	.	ID=VAR_075263;Note=In AD3%3B results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. F->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11524469,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63749911,PMID:11524469,PMID:27930341	
P49768	UniProtKB	Natural variant	177	177	.	.	.	ID=VAR_075264;Note=In AD3%3B uncertain significance. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11524469;Dbxref=dbSNP:rs63749806,PMID:11524469	
P49768	UniProtKB	Natural variant	178	178	.	.	.	ID=VAR_075265;Note=In AD3%3B uncertain significance%3B abolishes protease activity with APP. S->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11524469,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63750155,PMID:11524469,PMID:27930341	
P49768	UniProtKB	Natural variant	183	183	.	.	.	ID=VAR_081241;Note=In PIDB and AD3%3B uncertain significance%3B neuropathologic examination of brain sections from a patient shows the presence of Pick bodies and absence of beta-amyloid plaques%3B results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio in vitro. G->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15122701,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63751068,PMID:15122701,PMID:27930341	
P49768	UniProtKB	Natural variant	184	184	.	.	.	ID=VAR_081242;Note=In AD3%3B results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. E->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12552037,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63750311,PMID:12552037,PMID:27930341	
P49768	UniProtKB	Natural variant	205	205	.	.	.	ID=VAR_011876;Note=F->L;Dbxref=dbSNP:rs1042864	
P49768	UniProtKB	Natural variant	206	206	.	.	.	ID=VAR_016218;Note=In AD3%3B results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. G->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11524469,ECO:0000269|PubMed:11710891,ECO:0000269|PubMed:27073747,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63750082,PMID:11524469,PMID:11710891,PMID:27073747,PMID:27930341	
P49768	UniProtKB	Natural variant	206	206	.	.	.	ID=VAR_081243;Note=In AD3%3B affects APP processing resulting in increased amyloid-beta 42/amyloid-beta 40 ratio%3B does not affect NOTCH processing%3B does not affect endoproteolysis%3B reduced interaction with PEN2%3B results in decreased protein levels in the endoplasmic reticulum but increased levels in early endosome%3B reduced ability to maintain ER calcium homeostasis. G->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21335660,ECO:0000269|PubMed:25394380,ECO:0000269|PubMed:29175279;Dbxref=dbSNP:rs63750082,PMID:21335660,PMID:25394380,PMID:29175279	
P49768	UniProtKB	Natural variant	206	206	.	.	.	ID=VAR_075266;Note=In AD3%3B results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11524469,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63750569,PMID:11524469,PMID:27930341	
P49768	UniProtKB	Natural variant	209	209	.	.	.	ID=VAR_075267;Note=In AD3%3B uncertain significance. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11524469;Dbxref=dbSNP:rs63750053,PMID:11524469	
P49768	UniProtKB	Natural variant	209	209	.	.	.	ID=VAR_009210;Note=In AD3%3B results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10447269,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63749880,PMID:10447269,PMID:27930341	
P49768	UniProtKB	Natural variant	209	209	.	.	.	ID=VAR_006433;Note=In AD3%3B abolishes protease activity with APP. G->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:27930341,ECO:0000269|PubMed:9521423;Dbxref=dbSNP:rs63750053,PMID:27930341,PMID:9521423	
P49768	UniProtKB	Natural variant	213	213	.	.	.	ID=VAR_075268;Note=In AD3%3B increases protease activity with APP resulting in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. I->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11524469,ECO:0000269|PubMed:26280335,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63750861,PMID:11524469,PMID:26280335,PMID:27930341	
P49768	UniProtKB	Natural variant	213	213	.	.	.	ID=VAR_006434;Note=In AD3%3B decreased protease activity with APP resulting in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. I->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18430735,ECO:0000269|PubMed:8733303;Dbxref=dbSNP:rs63751309,PMID:18430735,PMID:8733303	
P49768	UniProtKB	Natural variant	214	214	.	.	.	ID=VAR_070024;Note=Found in a patient with dementia%3B uncertain significance. H->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22503161;Dbxref=dbSNP:rs63751003,PMID:22503161	
P49768	UniProtKB	Natural variant	217	217	.	.	.	ID=VAR_081244;Note=In AD3%3B with unusual amyloid cotton wool plaques%3B decreased protease activity with APP resulting in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. G->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19667325,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs267606983,PMID:19667325,PMID:27930341	
P49768	UniProtKB	Natural variant	219	219	.	.	.	ID=VAR_010126;Note=In AD3. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10208579;Dbxref=dbSNP:rs63750761,PMID:10208579	
P49768	UniProtKB	Natural variant	222	222	.	.	.	ID=VAR_075269;Note=In AD3%3B uncertain significance%3B slightly increased protease activity with APP and slightly increased amyloid-beta 42/amyloid-beta 40 ratio. Q->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11524469,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63750009,PMID:11524469,PMID:27930341	
P49768	UniProtKB	Natural variant	229	229	.	.	.	ID=VAR_081245;Note=In AD3%3B decreased protease activity with APP resulting in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. I->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12552037,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63749970,PMID:12552037,PMID:27930341	
P49768	UniProtKB	Natural variant	231	231	.	.	.	ID=VAR_006435;Note=In AD3%3B decreased protease activity with APP resulting in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. A->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10441572,ECO:0000269|PubMed:11524469,ECO:0000269|PubMed:27930341,ECO:0000269|PubMed:8634712;Dbxref=dbSNP:rs63749836,PMID:10441572,PMID:11524469,PMID:27930341,PMID:8634712	
P49768	UniProtKB	Natural variant	231	231	.	.	.	ID=VAR_006436;Note=In AD3%3B results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. A->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16752394,ECO:0000269|PubMed:9384602;Dbxref=dbSNP:rs63750799,PMID:16752394,PMID:9384602	
P49768	UniProtKB	Natural variant	233	233	.	.	.	ID=VAR_009211;Note=In AD3%3B slightly decreased protease activity with APP resulting in altered amyloid-beta production and mildly increased amyloid-beta 42/amyloid-beta 40 ratio. M->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10533070,ECO:0000269|PubMed:11524469,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63751287,PMID:10533070,PMID:11524469,PMID:27930341	
P49768	UniProtKB	Natural variant	233	233	.	.	.	ID=VAR_006437;Note=In AD3%3B decreased protease activity with APP resulting in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. M->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10441572,ECO:0000269|PubMed:27930341,ECO:0000269|PubMed:9172170;Dbxref=dbSNP:rs63751024,PMID:10441572,PMID:27930341,PMID:9172170	
P49768	UniProtKB	Natural variant	235	235	.	.	.	ID=VAR_006438;Note=In AD3%3B abolishes protease activity with APP. L->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10441572,ECO:0000269|PubMed:11524469,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63749835,PMID:10441572,PMID:11524469,PMID:27930341	
P49768	UniProtKB	Natural variant	235	235	.	.	.	ID=VAR_081246;Note=In AD3%3B abolishes protease activity with APP. L->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21501661,ECO:0000269|PubMed:27930341;Dbxref=PMID:21501661,PMID:27930341	
P49768	UniProtKB	Natural variant	235	235	.	.	.	ID=VAR_081247;Note=In AD3%3B reduced APP cleavage resulting in decreased amyloid-beta 42 and amyloid-beta 40 production%3B no relevant change in amyloid-beta 42/amyloid-beta 40 ratio. L->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12552037,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63751130,PMID:12552037,PMID:27930341	
P49768	UniProtKB	Natural variant	237	237	.	.	.	ID=VAR_081248;Note=In AD3%3B uncertain significance%3B disease phenotype includes spastic paraparesis%3B severe decrease of protease activity with APP%3B results in decreased amyloid-beta 42 and amyloid-beta 40 production. F->I;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11561050,ECO:0000269|PubMed:26280335,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63750858,PMID:11561050,PMID:26280335,PMID:27930341	
P49768	UniProtKB	Natural variant	237	237	.	.	.	ID=VAR_081249;Note=In AD3%3B uncertain significance. F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12552037;Dbxref=dbSNP:rs63750858,PMID:12552037	
P49768	UniProtKB	Natural variant	246	246	.	.	.	ID=VAR_006439;Note=In AD3%3B nearly abolishes protease activity with APP%3B increased amyloid-beta 42/amyloid-beta 40 ratio%3B no loss of its ability to cleave Ephb2/CTF1. A->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17428795,ECO:0000269|PubMed:27930341,ECO:0000269|PubMed:7596406;Dbxref=dbSNP:rs63750526,PMID:17428795,PMID:27930341,PMID:7596406	
P49768	UniProtKB	Natural variant	250	250	.	.	.	ID=VAR_006440;Note=In AD3%3B nearly abolishes protease activity with APP%3B increased amyloid-beta 42/amyloid-beta 40 ratio. L->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63751163,PMID:27930341	
P49768	UniProtKB	Natural variant	260	260	.	.	.	ID=VAR_006441;Note=In AD3%3B nearly abolishes protease activity with APP%3B increased amyloid-beta 42/amyloid-beta 40 ratio%3B impaired ability to cleave Ephb2/CTF1. A->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12552037,ECO:0000269|PubMed:17428795,ECO:0000269|PubMed:27930341,ECO:0000269|PubMed:7651536,ECO:0000269|PubMed:9521423;Dbxref=dbSNP:rs63751420,PMID:12552037,PMID:17428795,PMID:27930341,PMID:7651536,PMID:9521423	
P49768	UniProtKB	Natural variant	261	261	.	.	.	ID=VAR_075270;Note=In AD3%3B nearly abolishes protease activity with APP%3B increased amyloid-beta 42/amyloid-beta 40 ratio. V->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11524469,ECO:0000269|PubMed:26280335,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63750964,PMID:11524469,PMID:26280335,PMID:27930341	
P49768	UniProtKB	Natural variant	262	262	.	.	.	ID=VAR_006442;Note=In AD3%3B decreased protease activity with APP resulting in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. L->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16752394,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63750248,PMID:16752394,PMID:27930341	
P49768	UniProtKB	Natural variant	262	262	.	.	.	ID=VAR_070025;Note=In AD3. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22503161;Dbxref=PMID:22503161	
P49768	UniProtKB	Natural variant	263	263	.	.	.	ID=VAR_081250;Note=In AD3%3B results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. C->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12552037,ECO:0000269|PubMed:16752394;Dbxref=dbSNP:rs63751102,PMID:12552037,PMID:16752394	
P49768	UniProtKB	Natural variant	263	263	.	.	.	ID=VAR_006443;Note=In AD3%3B decreased protease activity with APP%3B increased amyloid-beta 42/amyloid-beta 40 ratio. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63750543,PMID:27930341	
P49768	UniProtKB	Natural variant	264	264	.	.	.	ID=VAR_006444;Note=In AD3%3B decreased protease activity with APP%3B increased amyloid-beta 42/amyloid-beta 40 ratio%3B impaired ability to cleave Ephb2/CTF1. P->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10441572,ECO:0000269|PubMed:17428795,ECO:0000269|PubMed:27930341,ECO:0000269|PubMed:8634712,ECO:0000269|PubMed:9521423;Dbxref=dbSNP:rs63750301,PMID:10441572,PMID:17428795,PMID:27930341,PMID:8634712,PMID:9521423	
P49768	UniProtKB	Natural variant	266	266	.	.	.	ID=VAR_016219;Note=In AD3%3B nearly abolishes protease activity with APP%3B increased amyloid-beta 42/amyloid-beta 40 ratio. G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11920851,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs121917807,PMID:11920851,PMID:27930341	
P49768	UniProtKB	Natural variant	267	267	.	.	.	ID=VAR_006445;Note=In AD3%3B decreased protease activity with APP%3B increased amyloid-beta 42/amyloid-beta 40 ratio. P->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:27930341,ECO:0000269|PubMed:7550356;Dbxref=dbSNP:rs63751229,PMID:27930341,PMID:7550356	
P49768	UniProtKB	Natural variant	269	269	.	.	.	ID=VAR_006447;Note=In AD3%3B decreased protease activity with APP%3B increased amyloid-beta 42/amyloid-beta 40 ratio. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63751019,PMID:27930341	
P49768	UniProtKB	Natural variant	269	269	.	.	.	ID=VAR_006448;Note=In AD3. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12552037;Dbxref=dbSNP:rs63750900,PMID:12552037	
P49768	UniProtKB	Natural variant	271	271	.	.	.	ID=VAR_016220;Note=In AD3%3B abolishes protease activity with APP. L->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12493737,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63750886,PMID:12493737,PMID:27930341	
P49768	UniProtKB	Natural variant	274	274	.	.	.	ID=VAR_075271;Note=In AD3%3B uncertain significance%3B abolishes protease activity with APP. T->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11524469,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63750284,PMID:11524469,PMID:27930341	
P49768	UniProtKB	Natural variant	275	275	.	.	.	ID=VAR_081251;Note=In AD3%3B uncertain significance%3B reduced protease activity with APP resulting in reduced amyloid-beta 40 levels but no relevant changes in amyloid-beta 42/amyloid-beta 40 ratio. A->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24582897,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs1555355869,PMID:24582897,PMID:27930341	
P49768	UniProtKB	Natural variant	278	278	.	.	.	ID=VAR_081252;Note=In AD3%3B atypical phenotype presenting as language impairment%2C impaired frontal executive function and relative preservation of memory%3B severe decrease of APP and Notch proteolysis. R->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15534260,ECO:0000269|PubMed:23843529;Dbxref=dbSNP:rs63749891,PMID:15534260,PMID:23843529	
P49768	UniProtKB	Natural variant	278	278	.	.	.	ID=VAR_006449;Note=In AD3. R->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9172170;Dbxref=dbSNP:rs63749891,PMID:9172170	
P49768	UniProtKB	Natural variant	280	280	.	.	.	ID=VAR_006450;Note=In AD3%3B strong deposition of amyloid-beta 42 is observed in brain regions of AD3 patients%3B decreased protease activity with APP resulting in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio%3B decreased activity for Notch1 cleavage. E->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11568920,ECO:0000269|PubMed:22461631,ECO:0000269|PubMed:27930341,ECO:0000269|PubMed:28269784,ECO:0000269|PubMed:7550356,ECO:0000269|PubMed:8837617,ECO:0000269|PubMed:9298817;Dbxref=dbSNP:rs63750231,PMID:11568920,PMID:22461631,PMID:27930341,PMID:28269784,PMID:7550356,PMID:8837617,PMID:9298817	
P49768	UniProtKB	Natural variant	280	280	.	.	.	ID=VAR_006451;Note=In AD3%3B some AD3 patients manifest spastic paraparesis and unusual amyloid plaques with prominent amyloid angiopathy on brain biopsy%3B decreased protease activity with APP%3B increased amyloid-beta 42/amyloid-beta 40 ratio%3B impaired ability to cleave Ephb2/CTF1. E->G;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12370477,ECO:0000269|PubMed:17428795,ECO:0000269|PubMed:27930341,ECO:0000269|PubMed:7550356;Dbxref=dbSNP:rs63750231,PMID:12370477,PMID:17428795,PMID:27930341,PMID:7550356	
P49768	UniProtKB	Natural variant	282	282	.	.	.	ID=VAR_009212;Note=In AD3%3B abolishes protease activity with APP. L->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10533070,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63750050,PMID:10533070,PMID:27930341	
P49768	UniProtKB	Natural variant	282	282	.	.	.	ID=VAR_081253;Note=In AD3%3B results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. L->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11701593,ECO:0000269|PubMed:15122701,ECO:0000269|PubMed:16752394;Dbxref=dbSNP:rs63749937,PMID:11701593,PMID:15122701,PMID:16752394	
P49768	UniProtKB	Natural variant	285	285	.	.	.	ID=VAR_006452;Note=In AD3%3B slightly decreased protease activity with APP and slightly decreased amyloid-beta 42/amyloid-beta 40 ratio. A->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:27930341,ECO:0000269|PubMed:7651536;Dbxref=dbSNP:rs63751139,PMID:27930341,PMID:7651536	
P49768	UniProtKB	Natural variant	286	286	.	.	.	ID=VAR_006453;Note=In AD3%3B results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. L->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:27930341,ECO:0000269|PubMed:7596406;Dbxref=dbSNP:rs63751235,PMID:27930341,PMID:7596406	
P49768	UniProtKB	Natural variant	289	289	.	.	.	ID=VAR_010127;Note=In AD3. S->C	
P49768	UniProtKB	Natural variant	311	311	.	.	.	ID=VAR_081254;Note=Found in patients with late-onset Alzheimer disease%3B uncertain significance%3B results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28269784;Dbxref=dbSNP:rs115865530,PMID:28269784	
P49768	UniProtKB	Natural variant	315	315	.	.	.	ID=VAR_064747;Note=Found in a renal cell carcinoma sample%3B somatic mutation. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21248752;Dbxref=PMID:21248752	
P49768	UniProtKB	Natural variant	318	318	.	.	.	ID=VAR_006454;Note=E->G;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10441572,ECO:0000269|PubMed:10533070,ECO:0000269|PubMed:10631141,ECO:0000269|PubMed:11524469,ECO:0000269|PubMed:11568920,ECO:0000269|PubMed:12552037,ECO:0000269|PubMed:18485326,ECO:0000269|PubMed:9384602,ECO:0000269|PubMed:9851443,ECO:0000269|PubMed:9851450,ECO:0000269|PubMed:9915968;Dbxref=dbSNP:rs17125721,PMID:10441572,PMID:10533070,PMID:10631141,PMID:11524469,PMID:11568920,PMID:12552037,PMID:18485326,PMID:9384602,PMID:9851443,PMID:9851450,PMID:9915968	
P49768	UniProtKB	Natural variant	333	333	.	.	.	ID=VAR_064902;Note=In CMD1U%3B results in slightly decreased protease activity with APP and slightly decreased amyloid-beta 42/amyloid-beta 40 ratio. D->G;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17186461,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs121917809,PMID:17186461,PMID:27930341	
P49768	UniProtKB	Natural variant	352	352	.	.	.	ID=VAR_075272;Note=In AD3%3B uncertain significance. R->RR;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11524469;Dbxref=PMID:11524469	
P49768	UniProtKB	Natural variant	354	354	.	.	.	ID=VAR_075273;Note=In AD3%3B uncertain significance%3B results in decreased protease activity with APP and decreased amyloid-beta 42/amyloid-beta 40 ratio. T->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11524469,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63751164,PMID:11524469,PMID:27930341	
P49768	UniProtKB	Natural variant	358	358	.	.	.	ID=VAR_075274;Note=In AD3%3B uncertain significance%3B results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11524469,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63751174,PMID:11524469,PMID:27930341	
P49768	UniProtKB	Natural variant	365	365	.	.	.	ID=VAR_075275;Note=In AD3%3B uncertain significance. S->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11524469;Dbxref=dbSNP:rs63750941,PMID:11524469	
P49768	UniProtKB	Natural variant	377	377	.	.	.	ID=VAR_081255;Note=In AD3%3B uncertain significance. R->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12552037;Dbxref=PMID:12552037	
P49768	UniProtKB	Natural variant	378	378	.	.	.	ID=VAR_006455;Note=In AD3%3B decreased protease activity with APP%3B results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. G->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10200054,ECO:0000269|PubMed:27930341;Dbxref=PMID:10200054,PMID:27930341	
P49768	UniProtKB	Natural variant	378	378	.	.	.	ID=VAR_081256;Note=In AD3%3B abolishes protease activity with APP. G->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12552037,ECO:0000269|PubMed:27073747,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63750323,PMID:12552037,PMID:27073747,PMID:27930341	
P49768	UniProtKB	Natural variant	381	381	.	.	.	ID=VAR_081257;Note=In AD3. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24121961;Dbxref=dbSNP:rs63750687,PMID:24121961	
P49768	UniProtKB	Natural variant	381	381	.	.	.	ID=VAR_081258;Note=In AD3%3B results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. L->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19797784,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63750687,PMID:19797784,PMID:27930341	
P49768	UniProtKB	Natural variant	384	384	.	.	.	ID=VAR_006456;Note=In AD3%3B results in reduced APP and Notch proteolysis%3B results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. G->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16752394,ECO:0000269|PubMed:23843529,ECO:0000269|PubMed:27930341,ECO:0000269|PubMed:8634711;Dbxref=dbSNP:rs63750646,PMID:16752394,PMID:23843529,PMID:27930341,PMID:8634711	
P49768	UniProtKB	Natural variant	390	390	.	.	.	ID=VAR_010128;Note=In AD3%3B abolishes protease activity with APP. S->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10441572,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63750883,PMID:10441572,PMID:27930341	
P49768	UniProtKB	Natural variant	392	392	.	.	.	ID=VAR_006457;Note=In AD3%3B results in reduced APP and Notch proteolysis%3B results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. L->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10441572,ECO:0000269|PubMed:23843529,ECO:0000269|PubMed:27930341,ECO:0000269|PubMed:7651536,ECO:0000269|PubMed:8634712;Dbxref=dbSNP:rs63751416,PMID:10441572,PMID:23843529,PMID:27930341,PMID:7651536,PMID:8634712	
P49768	UniProtKB	Natural variant	394	394	.	.	.	ID=VAR_075276;Note=In AD3%3B uncertain significance%3B abolishes protease activity with APP. G->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11524469,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63750929,PMID:11524469,PMID:27930341	
P49768	UniProtKB	Natural variant	396	396	.	.	.	ID=VAR_070026;Note=In AD3%3B uncertain significance%3B decreased protease activity with APP%3B results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Natural variant	405	405	.	.	.	ID=VAR_010129;Note=In AD3%3B uncertain significance%3B decreased protease activity with APP. N->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10644793,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63751254,PMID:10644793,PMID:27930341	
P49768	UniProtKB	Natural variant	408	408	.	.	.	ID=VAR_075277;Note=In AD3. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26549787;Dbxref=dbSNP:rs906454643,PMID:26549787	
P49768	UniProtKB	Natural variant	409	409	.	.	.	ID=VAR_009213;Note=In AD3%3B uncertain significance%3B decreased protease activity with APP. A->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10533070,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63750227,PMID:10533070,PMID:27930341	
P49768	UniProtKB	Natural variant	410	410	.	.	.	ID=VAR_006458;Note=In AD3%3B results in reduced APP and Notch proteolysis. C->Y;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10441572,ECO:0000269|PubMed:23843529,ECO:0000269|PubMed:27930341,ECO:0000269|PubMed:8634712,ECO:0000269|PubMed:9521423;Dbxref=dbSNP:rs661,PMID:10441572,PMID:23843529,PMID:27930341,PMID:8634712,PMID:9521423	
P49768	UniProtKB	Natural variant	417	417	.	.	.	ID=VAR_081259;Note=In AD3%3B uncertain significance. G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:30180983;Dbxref=PMID:30180983	
P49768	UniProtKB	Natural variant	418	418	.	.	.	ID=VAR_075278;Note=In AD3%3B uncertain significance%3B nearly abolishes protease activity with APP. L->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11524469,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63751316,PMID:11524469,PMID:27930341	
P49768	UniProtKB	Natural variant	426	426	.	.	.	ID=VAR_006459;Note=In AD3%3B uncertain significance%3B slightly decreased protease activity with APP. A->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:27930341,ECO:0000269|PubMed:9521423;Dbxref=dbSNP:rs63751223,PMID:27930341,PMID:9521423	
P49768	UniProtKB	Natural variant	431	431	.	.	.	ID=VAR_025605;Note=In AD3%3B decreased protease activity with APP%3B results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. A->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11524469,ECO:0000269|PubMed:16628450,ECO:0000269|PubMed:16897084,ECO:0000269|PubMed:27930341,ECO:0000269|Ref.93;Dbxref=dbSNP:rs63750083,PMID:11524469,PMID:16628450,PMID:16897084,PMID:27930341	
P49768	UniProtKB	Natural variant	435	435	.	.	.	ID=VAR_075280;Note=In AD3%3B with unusual amyloid cotton wool plaques%3B almost abolishes gamma-secretase activity%3B no endoproteolytic cleavage%3B no APP nor NOTCH1 processing%3B no detectable amyloid-beta. L->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11524469,ECO:0000269|PubMed:16305624,ECO:0000269|PubMed:20460383,ECO:0000269|PubMed:23843529,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63750001,PMID:11524469,PMID:16305624,PMID:20460383,PMID:23843529,PMID:27930341	
P49768	UniProtKB	Natural variant	436	436	.	.	.	ID=VAR_006460;Note=In AD3%3B severe decrease of protease activity with APP. P->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22529981,ECO:0000269|PubMed:9831473;Dbxref=dbSNP:rs121917808,PMID:22529981,PMID:9831473	
P49768	UniProtKB	Natural variant	436	436	.	.	.	ID=VAR_008141;Note=In AD3%3B partially abolishes gamma-secretase activity%3B results in altered amyloid-beta production and increased amyloid-beta 42/amyloid-beta 40 ratio. P->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10090481,ECO:0000269|PubMed:21248752,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63749925,PMID:10090481,PMID:21248752,PMID:27930341	
P49768	UniProtKB	Natural variant	439	439	.	.	.	ID=VAR_075282;Note=In AD3%3B uncertain significance%3B no significant change of protease activity with APP. I->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11524469,ECO:0000269|PubMed:27930341;Dbxref=dbSNP:rs63750249,PMID:11524469,PMID:27930341	
P49768	UniProtKB	Mutagenesis	66	72	.	.	.	Note=No effect on interaction with GFAP. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12058025;Dbxref=PMID:12058025	
P49768	UniProtKB	Mutagenesis	76	77	.	.	.	Note=No effect on interaction with GFAP. KY->AA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12058025;Dbxref=PMID:12058025	
P49768	UniProtKB	Mutagenesis	82	83	.	.	.	Note=Loss of interaction with GFAP. VI->EE;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12058025;Dbxref=PMID:12058025	
P49768	UniProtKB	Mutagenesis	82	82	.	.	.	Note=Loss of interaction with GFAP. V->K%2CE;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12058025;Dbxref=PMID:12058025	
P49768	UniProtKB	Mutagenesis	84	85	.	.	.	Note=Loss of interaction with GFAP. ML->EE;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12058025;Dbxref=PMID:12058025	
P49768	UniProtKB	Mutagenesis	99	99	.	.	.	Note=Nearly abolishes protease activity with APP. Increased amyloid-beta 42/amyloid-beta 40 ratio in vitro. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	105	105	.	.	.	Note=Nearly abolishes protease activity with APP. Increased amyloid-beta 42/amyloid-beta 40 ratio in vitro. F->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	108	108	.	.	.	Note=Nearly abolishes protease activity with APP. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	112	112	.	.	.	Note=Formation of an artifactual disulfide bond with a substrate protein. Q->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:30598546,ECO:0000269|PubMed:30630874;Dbxref=PMID:30598546,PMID:30630874	
P49768	UniProtKB	Mutagenesis	113	113	.	.	.	Note=Severe decrease of protease activity with APP. Increased amyloid-beta 42/amyloid-beta 40 ratio in vitro. L->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	117	117	.	.	.	Note=Nearly abolishes protease activity with APP. Increased amyloid-beta 42/amyloid-beta 40 ratio in vitro. P->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	123	123	.	.	.	Note=Nearly abolishes protease activity with APP. Increased amyloid-beta 42/amyloid-beta 40 ratio in vitro. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	131	131	.	.	.	Note=Severe decrease of protease activity with APP. H->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	136	136	.	.	.	Note=Decreased protease activity with APP. A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	143	143	.	.	.	Note=Increased amyloid-beta 42/amyloid-beta 40 ratio in vitro. I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	150	150	.	.	.	Note=Nearly abolishes protease activity with APP. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	165	165	.	.	.	Note=Decreased protease activity with APP. Increased amyloid-beta 42/amyloid-beta 40 ratio in vitro. W->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	168	168	.	.	.	Note=Nearly abolishes protease activity with APP. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	176	176	.	.	.	Note=Nearly abolishes protease activity with APP. F->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	184	184	.	.	.	Note=Nearly abolishes protease activity with APP. Increased amyloid-beta 42/amyloid-beta 40 ratio in vitro. E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	202	202	.	.	.	Note=Nearly abolishes protease activity with APP. I->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:26280335,ECO:0000269|PubMed:27930341;Dbxref=PMID:26280335,PMID:27930341	
P49768	UniProtKB	Mutagenesis	212	212	.	.	.	Note=Nearly abolishes protease activity with APP. S->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	214	214	.	.	.	Note=Nearly abolishes protease activity with APP. Increased amyloid-beta 42/amyloid-beta 40 ratio in vitro. H->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	219	219	.	.	.	Note=Decreased protease activity with APP. Increased amyloid-beta 42/amyloid-beta 40 ratio in vitro. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	223	223	.	.	.	Note=Abolishes protease activity with APP. Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	226	226	.	.	.	Note=Increases protease activity with APP. L->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:26280335,ECO:0000269|PubMed:27930341;Dbxref=PMID:26280335,PMID:27930341	
P49768	UniProtKB	Mutagenesis	230	230	.	.	.	Note=Abolishes protease activity with APP. S->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	238	238	.	.	.	Note=Abolishes protease activity with APP. I->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	239	239	.	.	.	Note=Abolishes protease activity with APP. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	245	245	.	.	.	Note=Abolishes protease activity with APP. T->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	248	248	.	.	.	Note=Nearly abolishes protease activity with APP. Increased amyloid-beta 42/amyloid-beta 40 ratio in vitro. L->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:26280335,ECO:0000269|PubMed:27930341;Dbxref=PMID:26280335,PMID:27930341	
P49768	UniProtKB	Mutagenesis	256	256	.	.	.	Note=Alters gamma-secretase cleavage specificity. Increased production of amyloid-beta protein 42. No effect on enzymatic activity. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15341515;Dbxref=PMID:15341515	
P49768	UniProtKB	Mutagenesis	256	256	.	.	.	Note=Nearly abolishes protease activity with APP. Increased amyloid-beta 42/amyloid-beta 40 ratio in vitro. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	257	257	.	.	.	Note=Impaired ability to cleave Ephb2/CTF1. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17428795;Dbxref=PMID:17428795	
P49768	UniProtKB	Mutagenesis	257	257	.	.	.	Note=Loss of endoproteolytic cleavage. Severe decrease of protease activity with APP. Reduces production of amyloid-beta. Reduces production of NICD in NOTCH1 processing. D->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10206644,ECO:0000269|PubMed:10899933,ECO:0000269|PubMed:15341515,ECO:0000269|PubMed:22529981;Dbxref=PMID:10206644,PMID:10899933,PMID:15341515,PMID:22529981	
P49768	UniProtKB	Mutagenesis	257	257	.	.	.	Note=Abolishes gamma-secretase activity. Reduces production of amyloid-beta in APP processing. Accumulation of full-length PS1. Loss of binding of transition state analog gamma-secretase inhibitor. D->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10206644,ECO:0000269|PubMed:10899933,ECO:0000269|PubMed:15341515;Dbxref=PMID:10206644,PMID:10899933,PMID:15341515	
P49768	UniProtKB	Mutagenesis	272	272	.	.	.	Note=Increased amyloid-beta 42/amyloid-beta 40 ratio in vitro. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	273	273	.	.	.	Note=Decreased protease activity with APP. Increased amyloid-beta 42/amyloid-beta 40 ratio in vitro. E->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	278	278	.	.	.	Note=Nearly abolishes protease activity with APP. Increased amyloid-beta 42/amyloid-beta 40 ratio in vitro. R->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	284	284	.	.	.	Note=No significant change of protease activity with APP. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	286	286	.	.	.	Note=Increases production of amyloid-beta in APP processing. L->A%2CE%2CP%2CQ%2CR%2CW;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10811883;Dbxref=PMID:10811883	
P49768	UniProtKB	Mutagenesis	286	286	.	.	.	Note=Reduces production of NICD in NOTCH1 processing. L->E%2CR;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10811883;Dbxref=PMID:10811883	
P49768	UniProtKB	Mutagenesis	288	290	.	.	.	Note=Loss of NOTCH1 and APPC83 cleavage. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:30598546,ECO:0000269|PubMed:30630874;Dbxref=PMID:30598546,PMID:30630874	
P49768	UniProtKB	Mutagenesis	291	291	.	.	.	Note=Abolishes protease activity with APP. T->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	292	292	.	.	.	Note=Loss of endoproteolytic cleavage. M->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10545183;Dbxref=PMID:10545183	
P49768	UniProtKB	Mutagenesis	310	310	.	.	.	Note=Abolishes PKA-mediated phosphorylation%3B no effect on caspase-mediated cleavage. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14576165;Dbxref=PMID:14576165	
P49768	UniProtKB	Mutagenesis	345	345	.	.	.	Note=Abolishes caspase cleavage. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9485372;Dbxref=PMID:9485372	
P49768	UniProtKB	Mutagenesis	346	346	.	.	.	Note=Abolishes PKC-mediated phosphorylation%3B no effect on PKA-mediated phosphorylation. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14576165;Dbxref=PMID:14576165	
P49768	UniProtKB	Mutagenesis	346	346	.	.	.	Note=Inhibits caspase-mediated cleavage. Modulates progression of apoptosis. S->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14576165;Dbxref=PMID:14576165	
P49768	UniProtKB	Mutagenesis	352	352	.	.	.	Note=Decreased protease activity with APP. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	365	365	.	.	.	Note=Slightly increased protease activity with APP. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	373	373	.	.	.	Note=No effect on caspase cleavage. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9485372;Dbxref=PMID:9485372	
P49768	UniProtKB	Mutagenesis	377	381	.	.	.	Note=Loss of NOTCH1 and APPC83 cleavage. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:30598546,ECO:0000269|PubMed:30630874;Dbxref=PMID:30598546,PMID:30630874	
P49768	UniProtKB	Mutagenesis	377	377	.	.	.	Note=Nearly abolishes protease activity with APP. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	385	385	.	.	.	Note=Loss of endoproteolytic cleavage. Severe decrease of protease activity with APP. Reduces production of amyloid-beta. Loss of NOTCH1 cleavage. Disassembly of the N-cadherin/PS1 complex at the cell surface. Impairs CDH2 processing. D->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10206644,ECO:0000269|PubMed:10899933,ECO:0000269|PubMed:14515347,ECO:0000269|PubMed:15341515,ECO:0000269|PubMed:22529981,ECO:0000269|PubMed:30598546,ECO:0000269|PubMed:30630874,ECO:0000269|PubMed:9485372;Dbxref=PMID:10206644,PMID:10899933,PMID:14515347,PMID:15341515,PMID:22529981,PMID:30598546,PMID:30630874,PMID:9485372	
P49768	UniProtKB	Mutagenesis	385	385	.	.	.	Note=Abolishes gamma-secretase activity. Reduces production of amyloid-beta in APP processing. Accumulation of full-length PS1. Loss of binding of transition state analog gamma-secretase inhibitor. D->E;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10206644,ECO:0000269|PubMed:10899933,ECO:0000269|PubMed:14515347,ECO:0000269|PubMed:15341515,ECO:0000269|PubMed:9485372;Dbxref=PMID:10206644,PMID:10899933,PMID:14515347,PMID:15341515,PMID:9485372	
P49768	UniProtKB	Mutagenesis	385	385	.	.	.	Note=No effect on caspase cleavage. D->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10206644,ECO:0000269|PubMed:10899933,ECO:0000269|PubMed:14515347,ECO:0000269|PubMed:15341515,ECO:0000269|PubMed:9485372;Dbxref=PMID:10206644,PMID:10899933,PMID:14515347,PMID:15341515,PMID:9485372	
P49768	UniProtKB	Mutagenesis	386	386	.	.	.	Note=Nearly abolishes protease activity with APP. Increased amyloid-beta 42/amyloid-beta 40 ratio in vitro. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	389	389	.	.	.	Note=Alters gamma-secretase cleavage specificity. Increased production of amyloid-beta protein 42. No effect on enzymatic activity. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15341515;Dbxref=PMID:15341515	
P49768	UniProtKB	Mutagenesis	391	391	.	.	.	Note=Decreased protease activity with APP. V->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	412	412	.	.	.	Note=Abolishes protease activity with APP. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	420	420	.	.	.	Note=Decreased protease activity with APP. Increased amyloid-beta 42/amyloid-beta 40 ratio in vitro. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Mutagenesis	424	424	.	.	.	Note=Increases protease activity with APP. L->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:26280335,ECO:0000269|PubMed:27930341;Dbxref=PMID:26280335,PMID:27930341	
P49768	UniProtKB	Mutagenesis	432	434	.	.	.	Note=Loss of NOTCH1 and APPC83 cleavage. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:30598546,ECO:0000269|PubMed:30630874;Dbxref=PMID:30598546,PMID:30630874	
P49768	UniProtKB	Mutagenesis	432	432	.	.	.	Note=Loss of NOTCH1 and APPC83 cleavage. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:30598546,ECO:0000269|PubMed:30630874;Dbxref=PMID:30598546,PMID:30630874	
P49768	UniProtKB	Mutagenesis	433	433	.	.	.	Note=No effect on endoproteolytic cleavage. No effect on APP nor NOTCH1 processing. Slightly increased amyloid-beta protein 42/40 ratio. P->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16305624;Dbxref=PMID:16305624	
P49768	UniProtKB	Mutagenesis	433	433	.	.	.	Note=No endoproteolytic cleavage%3B no APP%2C nor NOTCH1 processing. No detectable amyloid-beta. P->D%2CF%2CL%2CN%2CV;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16305624,ECO:0000269|PubMed:20460383;Dbxref=PMID:16305624,PMID:20460383	
P49768	UniProtKB	Mutagenesis	433	433	.	.	.	Note=Very little endoproteolysis. Little APP processing. No NOTCH1 processing. Very low levels amyloid-beta protein 40 and no detectable amyloid-beta protein 42. P->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16305624;Dbxref=PMID:16305624	
P49768	UniProtKB	Mutagenesis	434	434	.	.	.	Note=Some loss of endoproteolytic cleavage. Some loss of APP and NOTCH1 processing. 6 to 13-fold increase in amyloid-beta protein 42/40 ratio. A->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16305624,ECO:0000269|PubMed:27930341;Dbxref=PMID:16305624,PMID:27930341	
P49768	UniProtKB	Mutagenesis	434	434	.	.	.	Note=No endoproteolytic cleavage. No APP nor NOTCH1 processing. No detectable amyloid-beta. A->D%2CI%2CL%2CV;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16305624;Dbxref=PMID:16305624	
P49768	UniProtKB	Mutagenesis	434	434	.	.	.	Note=No effect on endoproteolytic cleavage. No effect on APP nor NOTCH1 processing. Reduced amyloid-beta protein 42/40 ratio. A->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16305624;Dbxref=PMID:16305624	
P49768	UniProtKB	Mutagenesis	435	435	.	.	.	Note=No effect on endoproteolytic cleavage. No effect on APP processing. Impaired NOTCH1 processing. Greatly reduced amyloid-beta protein 42/40 ratio. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16305624;Dbxref=PMID:16305624	
P49768	UniProtKB	Mutagenesis	435	435	.	.	.	Note=Greatly reduced endoproteolytic cleavage. Very little APP and NOTCH1 processing. Very low levels of amyloid-beta protein 40 and no detectable amyloid-beta protein 42. L->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16305624;Dbxref=PMID:16305624	
P49768	UniProtKB	Mutagenesis	435	435	.	.	.	Note=No effect on endoproteolytic cleavage. No effect on APP nor NOTCH1 processing. L->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16305624;Dbxref=PMID:16305624	
P49768	UniProtKB	Mutagenesis	435	435	.	.	.	Note=No endoproteolytic cleavage%3B no APP%2C nor NOTCH1 processing. No detectable amyloid-beta. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20460383;Dbxref=PMID:20460383	
P49768	UniProtKB	Mutagenesis	435	435	.	.	.	Note=No effect on endoproteolytic cleavage. No effect on APP processing. Impaired NOTCH1 processing. Some increase in amyloid-beta protein 42/40 ratio. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16305624;Dbxref=PMID:16305624	
P49768	UniProtKB	Mutagenesis	437	437	.	.	.	Note=Decreased protease activity with APP. Increased amyloid-beta 42/amyloid-beta 40 ratio in vitro. I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27930341;Dbxref=PMID:27930341	
P49768	UniProtKB	Sequence conflict	128	128	.	.	.	Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305	
P49768	UniProtKB	Helix	74	102	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6IYC	
P49768	UniProtKB	Helix	105	107	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6IYC	
P49768	UniProtKB	Beta strand	114	116	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6LQG	
P49768	UniProtKB	Beta strand	120	123	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6IYC	
P49768	UniProtKB	Helix	125	155	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6IYC	
P49768	UniProtKB	Helix	159	175	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6IYC	
P49768	UniProtKB	Helix	177	188	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6IYC	
P49768	UniProtKB	Helix	195	214	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6IYC	
P49768	UniProtKB	Helix	219	239	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6IYC	
P49768	UniProtKB	Helix	243	262	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6IYC	
P49768	UniProtKB	Beta strand	263	266	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6IDF	
P49768	UniProtKB	Helix	269	277	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6IYC	
P49768	UniProtKB	Beta strand	278	280	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6IDF	
P49768	UniProtKB	Beta strand	284	289	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6IYC	
P49768	UniProtKB	Helix	293	299	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2KR6	
P49768	UniProtKB	Beta strand	341	345	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2KR6	
P49768	UniProtKB	Helix	356	368	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:2KR6	
P49768	UniProtKB	Beta strand	378	382	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6IYC	
P49768	UniProtKB	Helix	383	398	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6IYC	
P49768	UniProtKB	Beta strand	401	404	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6IYC	
P49768	UniProtKB	Helix	405	428	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6IYC	
P49768	UniProtKB	Beta strand	432	435	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6IYC	
P49768	UniProtKB	Helix	438	449	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6IYC	
P49768	UniProtKB	Turn	450	452	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6IYC	
P49768	UniProtKB	Helix	453	463	.	.	.	Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6IYC