##gff-version 3 Q8NF91 UniProtKB Chain 1 8797 . . . ID=PRO_0000163591;Note=Nesprin-1 Q8NF91 UniProtKB Topological domain 1 8746 . . . Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00385 Q8NF91 UniProtKB Transmembrane 8747 8767 . . . Note=Helical%3B Anchor for type IV membrane protein;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00385 Q8NF91 UniProtKB Topological domain 8768 8797 . . . Note=Perinuclear space;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00385 Q8NF91 UniProtKB Domain 27 134 . . . Note=Calponin-homology (CH) 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00044 Q8NF91 UniProtKB Domain 178 283 . . . Note=Calponin-homology (CH) 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00044 Q8NF91 UniProtKB Repeat 314 397 . . . Note=Spectrin 1 Q8NF91 UniProtKB Repeat 398 502 . . . Note=Spectrin 2 Q8NF91 UniProtKB Repeat 503 609 . . . Note=Spectrin 3 Q8NF91 UniProtKB Repeat 610 703 . . . Note=Spectrin 4 Q8NF91 UniProtKB Repeat 704 815 . . . Note=Spectrin 5 Q8NF91 UniProtKB Repeat 816 923 . . . Note=Spectrin 6 Q8NF91 UniProtKB Repeat 924 1024 . . . Note=Spectrin 7 Q8NF91 UniProtKB Repeat 1025 1122 . . . Note=Spectrin 8 Q8NF91 UniProtKB Repeat 1123 1246 . . . Note=Spectrin 9 Q8NF91 UniProtKB Repeat 1247 1335 . . . Note=Spectrin 10 Q8NF91 UniProtKB Repeat 1336 1444 . . . Note=Spectrin 11 Q8NF91 UniProtKB Repeat 1445 1550 . . . Note=Spectrin 12 Q8NF91 UniProtKB Repeat 1551 1653 . . . Note=Spectrin 13 Q8NF91 UniProtKB Repeat 1654 1763 . . . Note=Spectrin 14 Q8NF91 UniProtKB Repeat 1764 1879 . . . Note=Spectrin 15 Q8NF91 UniProtKB Repeat 1880 1976 . . . Note=Spectrin 16 Q8NF91 UniProtKB Repeat 1977 2081 . . . Note=Spectrin 17 Q8NF91 UniProtKB Repeat 2082 2195 . . . Note=Spectrin 18 Q8NF91 UniProtKB Repeat 2196 2303 . . . Note=Spectrin 19 Q8NF91 UniProtKB Repeat 2304 2401 . . . Note=Spectrin 20 Q8NF91 UniProtKB Repeat 2402 2513 . . . Note=Spectrin 21 Q8NF91 UniProtKB Repeat 2514 2619 . . . Note=Spectrin 22 Q8NF91 UniProtKB Repeat 2620 2731 . . . Note=Spectrin 23 Q8NF91 UniProtKB Repeat 2732 2838 . . . Note=Spectrin 24 Q8NF91 UniProtKB Repeat 2839 2962 . . . Note=Spectrin 25 Q8NF91 UniProtKB Repeat 2963 3062 . . . Note=Spectrin 26 Q8NF91 UniProtKB Repeat 3063 3171 . . . Note=Spectrin 27 Q8NF91 UniProtKB Repeat 3172 3275 . . . Note=Spectrin 28 Q8NF91 UniProtKB Repeat 3276 3387 . . . Note=Spectrin 29 Q8NF91 UniProtKB Repeat 3388 3490 . . . Note=Spectrin 30 Q8NF91 UniProtKB Repeat 3491 3593 . . . Note=Spectrin 31 Q8NF91 UniProtKB Repeat 3594 3720 . . . Note=Spectrin 32 Q8NF91 UniProtKB Repeat 3721 3814 . . . Note=Spectrin 33 Q8NF91 UniProtKB Repeat 3815 3920 . . . Note=Spectrin 34 Q8NF91 UniProtKB Repeat 3921 4028 . . . Note=Spectrin 35 Q8NF91 UniProtKB Repeat 4029 4139 . . . Note=Spectrin 36 Q8NF91 UniProtKB Repeat 4140 4235 . . . Note=Spectrin 37 Q8NF91 UniProtKB Repeat 4236 4339 . . . Note=Spectrin 38 Q8NF91 UniProtKB Repeat 4340 4451 . . . Note=Spectrin 39 Q8NF91 UniProtKB Repeat 4452 4560 . . . Note=Spectrin 40 Q8NF91 UniProtKB Repeat 4561 4669 . . . Note=Spectrin 41 Q8NF91 UniProtKB Repeat 4670 4776 . . . Note=Spectrin 42 Q8NF91 UniProtKB Repeat 4777 4882 . . . Note=Spectrin 43 Q8NF91 UniProtKB Repeat 4883 4991 . . . Note=Spectrin 44 Q8NF91 UniProtKB Repeat 4992 5099 . . . Note=Spectrin 45 Q8NF91 UniProtKB Repeat 5100 5209 . . . Note=Spectrin 46 Q8NF91 UniProtKB Repeat 5210 5318 . . . Note=Spectrin 47 Q8NF91 UniProtKB Repeat 5319 5424 . . . Note=Spectrin 48 Q8NF91 UniProtKB Repeat 5425 5522 . . . Note=Spectrin 49 Q8NF91 UniProtKB Repeat 5523 5630 . . . Note=Spectrin 50 Q8NF91 UniProtKB Repeat 5631 5736 . . . Note=Spectrin 51 Q8NF91 UniProtKB Repeat 5737 5842 . . . Note=Spectrin 52 Q8NF91 UniProtKB Repeat 5962 6071 . . . Note=Spectrin 53 Q8NF91 UniProtKB Repeat 6072 6178 . . . Note=Spectrin 54 Q8NF91 UniProtKB Repeat 6374 6485 . . . Note=Spectrin 55 Q8NF91 UniProtKB Repeat 6486 6581 . . . Note=Spectrin 56 Q8NF91 UniProtKB Repeat 6582 6691 . . . Note=Spectrin 57 Q8NF91 UniProtKB Repeat 6692 6795 . . . Note=Spectrin 58 Q8NF91 UniProtKB Repeat 6796 6902 . . . Note=Spectrin 59 Q8NF91 UniProtKB Repeat 6903 7020 . . . Note=Spectrin 60 Q8NF91 UniProtKB Repeat 7021 7128 . . . Note=Spectrin 61 Q8NF91 UniProtKB Repeat 7129 7237 . . . Note=Spectrin 62 Q8NF91 UniProtKB Repeat 7238 7350 . . . Note=Spectrin 63 Q8NF91 UniProtKB Repeat 7351 7454 . . . Note=Spectrin 64 Q8NF91 UniProtKB Repeat 7455 7558 . . . Note=Spectrin 65 Q8NF91 UniProtKB Repeat 7559 7671 . . . Note=Spectrin 66 Q8NF91 UniProtKB Repeat 7672 7783 . . . Note=Spectrin 67 Q8NF91 UniProtKB Repeat 7784 7883 . . . Note=Spectrin 68 Q8NF91 UniProtKB Repeat 7884 7997 . . . Note=Spectrin 69 Q8NF91 UniProtKB Repeat 7998 8106 . . . Note=Spectrin 70 Q8NF91 UniProtKB Repeat 8107 8216 . . . Note=Spectrin 71 Q8NF91 UniProtKB Repeat 8329 8438 . . . Note=Spectrin 72 Q8NF91 UniProtKB Repeat 8439 8548 . . . Note=Spectrin 73 Q8NF91 UniProtKB Repeat 8549 8666 . . . Note=Spectrin 74 Q8NF91 UniProtKB Domain 8738 8797 . . . Note=KASH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00385 Q8NF91 UniProtKB Region 1 289 . . . Note=Actin-binding Q8NF91 UniProtKB Region 5859 5886 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8NF91 UniProtKB Region 8246 8279 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8NF91 UniProtKB Region 8671 8734 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8NF91 UniProtKB Coiled coil 314 8666 . . . Ontology_term=ECO:0000255;evidence=ECO:0000255 Q8NF91 UniProtKB Compositional bias 5862 5886 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8NF91 UniProtKB Compositional bias 8247 8267 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8NF91 UniProtKB Compositional bias 8671 8731 . . . Note=Polar residues;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q8NF91 UniProtKB Modified residue 732 732 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q6ZWR6 Q8NF91 UniProtKB Modified residue 2270 2270 . . . Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q6ZWR6 Q8NF91 UniProtKB Modified residue 5657 5657 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q6ZWR6 Q8NF91 UniProtKB Modified residue 8223 8223 . . . Note=Phosphoserine;Ontology_term=ECO:0007744,ECO:0007744;evidence=ECO:0007744|PubMed:17081983,ECO:0007744|PubMed:24275569;Dbxref=PMID:17081983,PMID:24275569 Q8NF91 UniProtKB Modified residue 8274 8274 . . . Note=Phosphothreonine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:17081983;Dbxref=PMID:17081983 Q8NF91 UniProtKB Modified residue 8277 8277 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:17081983;Dbxref=PMID:17081983 Q8NF91 UniProtKB Modified residue 8280 8280 . . . Note=Phosphoserine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:17081983;Dbxref=PMID:17081983 Q8NF91 UniProtKB Modified residue 8305 8305 . . . Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q6ZWR6 Q8NF91 UniProtKB Modified residue 8360 8360 . . . Note=Phosphothreonine;Ontology_term=ECO:0007744;evidence=ECO:0007744|PubMed:24275569;Dbxref=PMID:24275569 Q8NF91 UniProtKB Disulfide bond 8774 8774 . . . Note=Interchain (C-563 in SUN2)%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8WXH0 Q8NF91 UniProtKB Disulfide bond 8774 8774 . . . Note=Interchain (with C-657 in SUN1)%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8WXH0 Q8NF91 UniProtKB Alternative sequence 1 7843 . . . ID=VSP_007133;Note=In isoform 9. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.6 Q8NF91 UniProtKB Alternative sequence 1 7838 . . . ID=VSP_007132;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11792814;Dbxref=PMID:11792814 Q8NF91 UniProtKB Alternative sequence 1 7658 . . . ID=VSP_057476;Note=In isoform 11. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11801724;Dbxref=PMID:11801724 Q8NF91 UniProtKB Alternative sequence 1 5585 . . . ID=VSP_007131;Note=In isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.6 Q8NF91 UniProtKB Alternative sequence 1 5476 . . . ID=VSP_007130;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11792814;Dbxref=PMID:11792814 Q8NF91 UniProtKB Alternative sequence 1 2918 . . . ID=VSP_057477;Note=In isoform GSRP-56. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Q8NF91 UniProtKB Alternative sequence 103 103 . . . ID=VSP_007134;Note=In isoform 4. K->KSMHRGSP;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15093733;Dbxref=PMID:15093733 Q8NF91 UniProtKB Alternative sequence 297 313 . . . ID=VSP_057478;Note=In isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:18709643;Dbxref=PMID:18709643 Q8NF91 UniProtKB Alternative sequence 1437 1443 . . . ID=VSP_007135;Note=In isoform 5. DIKTMEM->EYVIDKS;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11214970;Dbxref=PMID:11214970 Q8NF91 UniProtKB Alternative sequence 1444 8797 . . . ID=VSP_007136;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11214970;Dbxref=PMID:11214970 Q8NF91 UniProtKB Alternative sequence 1702 1725 . . . ID=VSP_007137;Note=In isoform 6. LQNEVVSQASFYSKLLQLKESLFS->SSRKCEEGKNKMLFVTVTLFKIIK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 Q8NF91 UniProtKB Alternative sequence 1726 8797 . . . ID=VSP_007138;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 Q8NF91 UniProtKB Alternative sequence 3049 3049 . . . ID=VSP_057479;Note=In isoform 10. C->W;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:18709643;Dbxref=PMID:18709643 Q8NF91 UniProtKB Alternative sequence 3050 8797 . . . ID=VSP_057480;Note=In isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:18709643;Dbxref=PMID:18709643 Q8NF91 UniProtKB Alternative sequence 3325 3394 . . . ID=VSP_057481;Note=In isoform GSRP-56. ALLSVKQEKEIQMKMIVTRGESVLQNTSPEGIPTIQQQLQSVKDMWASLLSAGIRCKSQLEGALSKWTSY->VCIFTQKYLQPTEFVFLKISRLHPPGVMMSHSLHDKSQMLCECNAVCLGCTCQRIPESSDPGCFPKNKIK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Q8NF91 UniProtKB Alternative sequence 3395 8797 . . . ID=VSP_057482;Note=In isoform GSRP-56. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 Q8NF91 UniProtKB Alternative sequence 3620 3641 . . . ID=VSP_007139;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15093733;Dbxref=PMID:15093733 Q8NF91 UniProtKB Alternative sequence 3912 3967 . . . ID=VSP_007140;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15093733;Dbxref=PMID:15093733 Q8NF91 UniProtKB Alternative sequence 5571 5580 . . . ID=VSP_007141;Note=In isoform 7. TLLEESKEID->VTLGKIIFKK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10574462;Dbxref=PMID:10574462 Q8NF91 UniProtKB Alternative sequence 5581 8797 . . . ID=VSP_007142;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10574462;Dbxref=PMID:10574462 Q8NF91 UniProtKB Alternative sequence 7844 7874 . . . ID=VSP_007143;Note=In isoform 9. AKASHESKASEIEYKLGKVNDRWQHLLDLIA->MVVAEDLSALRMAEDGCVDADLPDCNCDVTR;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.6 Q8NF91 UniProtKB Alternative sequence 8325 8325 . . . ID=VSP_007144;Note=In isoform 3%2C isoform 4 and isoform 9. S->SDVMIPESPEAYVKLTENAIKNTS;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11792814,ECO:0000303|PubMed:15093733,ECO:0000303|Ref.6;Dbxref=PMID:11792814,PMID:15093733 Q8NF91 UniProtKB Natural variant 655 655 . . . ID=VAR_056211;Note=Found in a patient with mild intellectual disability%2C spastic paraplegia%2C axon neuropathy and leukoencephalopathy%3B uncertain significance. Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24123876;Dbxref=dbSNP:rs9397509,PMID:24123876 Q8NF91 UniProtKB Natural variant 885 885 . . . ID=VAR_056212;Note=L->V;Dbxref=dbSNP:rs17082709 Q8NF91 UniProtKB Natural variant 1035 1035 . . . ID=VAR_056213;Note=V->A;Dbxref=dbSNP:rs214976 Q8NF91 UniProtKB Natural variant 1062 1062 . . . ID=VAR_074190;Note=R->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25787250;Dbxref=PMID:25787250 Q8NF91 UniProtKB Natural variant 2030 2030 . . . ID=VAR_056214;Note=S->G;Dbxref=dbSNP:rs35763277 Q8NF91 UniProtKB Natural variant 2795 2795 . . . ID=VAR_056215;Note=A->V;Dbxref=dbSNP:rs214950 Q8NF91 UniProtKB Natural variant 3088 3088 . . . ID=VAR_070561;Note=Found in a patient with mild intellectual disability%2C spastic paraplegia%2C axon neuropathy and leukoencephalopathy%3B uncertain significance. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24123876;Dbxref=dbSNP:rs398123005,PMID:24123876 Q8NF91 UniProtKB Natural variant 3671 3671 . . . ID=VAR_036250;Note=In a colorectal cancer sample%3B somatic mutation. V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=dbSNP:rs567753957,PMID:16959974 Q8NF91 UniProtKB Natural variant 3874 3874 . . . ID=VAR_056216;Note=K->T;Dbxref=dbSNP:rs13210127 Q8NF91 UniProtKB Natural variant 3892 3892 . . . ID=VAR_070562;Note=Found in a patient with mild intellectual disability%2C spastic paraplegia%2C axon neuropathy and leukoencephalopathy%3B uncertain significance. L->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24123876;Dbxref=dbSNP:rs180727534,PMID:24123876 Q8NF91 UniProtKB Natural variant 3954 3954 . . . ID=VAR_056217;Note=S->T;Dbxref=dbSNP:rs7775119 Q8NF91 UniProtKB Natural variant 4060 4060 . . . ID=VAR_056218;Note=E->D;Dbxref=dbSNP:rs4645434 Q8NF91 UniProtKB Natural variant 4121 4121 . . . ID=VAR_056219;Note=K->N;Dbxref=dbSNP:rs28385621 Q8NF91 UniProtKB Natural variant 4121 4121 . . . ID=VAR_056220;Note=K->R;Dbxref=dbSNP:rs9479297 Q8NF91 UniProtKB Natural variant 4203 4203 . . . ID=VAR_056221;Note=E->K;Dbxref=dbSNP:rs2130262 Q8NF91 UniProtKB Natural variant 4210 4210 . . . ID=VAR_036251;Note=In a colorectal cancer sample%3B somatic mutation. E->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 Q8NF91 UniProtKB Natural variant 4223 4223 . . . ID=VAR_036252;Note=In a colorectal cancer sample%3B somatic mutation. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=dbSNP:rs140492158,PMID:16959974 Q8NF91 UniProtKB Natural variant 4546 4546 . . . ID=VAR_056222;Note=V->I;Dbxref=dbSNP:rs4870093 Q8NF91 UniProtKB Natural variant 4596 4596 . . . ID=VAR_056223;Note=S->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10574462,ECO:0000269|PubMed:12408964;Dbxref=dbSNP:rs6911096,PMID:10574462,PMID:12408964 Q8NF91 UniProtKB Natural variant 4944 4944 . . . ID=VAR_056224;Note=L->M;Dbxref=dbSNP:rs2306916 Q8NF91 UniProtKB Natural variant 5015 5015 . . . ID=VAR_056225;Note=L->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10574462,ECO:0000269|PubMed:12408964;Dbxref=dbSNP:rs2306916,PMID:10574462,PMID:12408964 Q8NF91 UniProtKB Natural variant 5377 5377 . . . ID=VAR_056226;Note=M->L;Dbxref=dbSNP:rs35987150 Q8NF91 UniProtKB Natural variant 5426 5426 . . . ID=VAR_056227;Note=T->M;Dbxref=dbSNP:rs2306914 Q8NF91 UniProtKB Natural variant 5507 5507 . . . ID=VAR_036253;Note=In a colorectal cancer sample%3B somatic mutation. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 Q8NF91 UniProtKB Natural variant 6566 6566 . . . ID=VAR_056228;Note=M->I;Dbxref=dbSNP:rs35654757 Q8NF91 UniProtKB Natural variant 6664 6664 . . . ID=VAR_056229;Note=T->I;Dbxref=dbSNP:rs35079654 Q8NF91 UniProtKB Natural variant 6951 6951 . . . ID=VAR_056230;Note=Q->H;Dbxref=dbSNP:rs3945783 Q8NF91 UniProtKB Natural variant 7302 7302 . . . ID=VAR_056231;Note=F->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11792814,ECO:0000269|PubMed:12408964,ECO:0000269|PubMed:9872452,ECO:0000269|Ref.6;Dbxref=dbSNP:rs2147377,PMID:11792814,PMID:12408964,PMID:9872452 Q8NF91 UniProtKB Natural variant 7506 7506 . . . ID=VAR_056232;Note=S->G;Dbxref=dbSNP:rs35763277 Q8NF91 UniProtKB Natural variant 8095 8095 . . . ID=VAR_062974;Note=In EDMD4. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17761684;Dbxref=dbSNP:rs119103246,PMID:17761684 Q8NF91 UniProtKB Natural variant 8161 8161 . . . ID=VAR_056233;Note=N->H;Dbxref=dbSNP:rs36215251 Q8NF91 UniProtKB Natural variant 8168 8168 . . . ID=VAR_056234;Note=A->S;Dbxref=dbSNP:rs17082236 Q8NF91 UniProtKB Natural variant 8193 8797 . . . ID=VAR_082986;Note=In AMC3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24319099;Dbxref=PMID:24319099 Q8NF91 UniProtKB Natural variant 8323 8323 . . . ID=VAR_015548;Note=G->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11792814,ECO:0000269|PubMed:11801724,ECO:0000269|PubMed:12408964,ECO:0000269|PubMed:9872452,ECO:0000269|Ref.6;Dbxref=dbSNP:rs2252755,PMID:11792814,PMID:11801724,PMID:12408964,PMID:9872452 Q8NF91 UniProtKB Natural variant 8387 8387 . . . ID=VAR_062975;Note=In EDMD4%3B uncertain significance. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17761684;Dbxref=dbSNP:rs119103247,PMID:17761684 Q8NF91 UniProtKB Natural variant 8461 8461 . . . ID=VAR_062976;Note=In EDMD4. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17761684;Dbxref=dbSNP:rs119103248,PMID:17761684 Q8NF91 UniProtKB Natural variant 8468 8468 . . . ID=VAR_036254;Note=In a colorectal cancer sample%3B somatic mutation. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=dbSNP:rs143049227,PMID:16959974 Q8NF91 UniProtKB Natural variant 8687 8687 . . . ID=VAR_056235;Note=T->I;Dbxref=dbSNP:rs35591210 Q8NF91 UniProtKB Natural variant 8741 8741 . . . ID=VAR_056236;Note=L->M;Dbxref=dbSNP:rs2295190 Q8NF91 UniProtKB Natural variant 8746 8797 . . . ID=VAR_082987;Note=In AMC3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27782104;Dbxref=PMID:27782104 Q8NF91 UniProtKB Mutagenesis 8758 8763 . . . Note=Abolishes the nuclear envelope targeting%2C induces a cytoplasmic localization. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11792814;Dbxref=PMID:11792814 Q8NF91 UniProtKB Sequence conflict 98 98 . . . Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8NF91 UniProtKB Sequence conflict 494 494 . . . Note=S->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8NF91 UniProtKB Sequence conflict 1440 1440 . . . Note=T->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8NF91 UniProtKB Sequence conflict 3096 3096 . . . Note=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8NF91 UniProtKB Sequence conflict 5526 5526 . . . Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8NF91 UniProtKB Sequence conflict 5564 5564 . . . Note=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8NF91 UniProtKB Sequence conflict 5735 5735 . . . Note=E->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8NF91 UniProtKB Sequence conflict 6549 6549 . . . Note=K->E;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8NF91 UniProtKB Sequence conflict 6626 6626 . . . Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8NF91 UniProtKB Sequence conflict 6645 6645 . . . Note=E->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8NF91 UniProtKB Sequence conflict 6923 6923 . . . Note=I->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8NF91 UniProtKB Sequence conflict 6929 6929 . . . Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8NF91 UniProtKB Sequence conflict 7075 7075 . . . Note=E->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8NF91 UniProtKB Sequence conflict 7091 7091 . . . Note=N->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 Q8NF91 UniProtKB Helix 8770 8776 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6R15 Q8NF91 UniProtKB Helix 8779 8782 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6R15 Q8NF91 UniProtKB Beta strand 8783 8785 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:6R15 Q8NF91 UniProtKB Beta strand 8787 8793 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:4DXR