313:
290:
187:
212:
319:
218:
2026:
50:
1578:
Kazmierczak P, Sakaguchi H, Tokita J, Wilson-Kubalek EM, Milligan RA, Müller U, Kachar B (September 2007). "Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells".
1693:
Alagramam KN, Murcia CL, Kwon HY, Pawlowski KS, Wright CG, Woychik RP (January 2001). "The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene".
1843:
Ouyang XM, Yan D, Du LL, Hejtmancik JF, Jacobson SG, Nance WE, et al. (March 2005). "Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population".
1882:"Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%"
326:
225:
1366:
type 1F (USH1F) critical region on chromosome 10. Variation within it has also been found to be associated with normal differences in human facial appearance.
793:
774:
148:
2095:
2071:
2090:
1443:
1425:
312:
47:
1233:
1240:
289:
1512:"PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23"
1564:
1412:
1391:
211:
186:
1408:
1802:"Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans"
1387:
128:
1335:
325:
224:
2064:
318:
217:
838:
136:
2016:
provides an overview of all the structure information available in the PDB for Human
Protocadherin-15 (PCDH15)
1362:
Mutations in this gene have been associated with hearing loss, which is consistent with its location at the
819:
2008:
2057:
200:
1880:
Roux AF, Faugère V, Le Guédard S, Pallares-Ruiz N, Vielle A, Chambert S, et al. (September 2006).
1642:
1587:
1331:
115:
1212:
1208:
1204:
1200:
1196:
1192:
1188:
1184:
1174:
1170:
1166:
1162:
1158:
1143:
1139:
1135:
1131:
1127:
1123:
1115:
1111:
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1103:
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1077:
1073:
1069:
1045:
1041:
1037:
1033:
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1017:
1007:
1003:
999:
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991:
976:
972:
968:
964:
960:
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952:
948:
944:
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936:
932:
928:
918:
914:
910:
906:
1923:
Zheng QY, Yu H, Washington JL, Kisley LB, Kikkawa YS, Pawlowski KS, et al. (September 2006).
1868:
1718:
1611:
1541:
160:
1730:
Alagramam KN, Yuan H, Kuehn MH, Murcia CL, Wayne S, Srisailpathy CR, et al. (August 2001).
1216:
1119:
1049:
902:
1968:"Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome"
1989:
1954:
1911:
1860:
1831:
1788:
1753:
1710:
1670:
1603:
1533:
1492:
108:
40:
2041:
1979:
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1936:
1901:
1893:
1852:
1821:
1813:
1778:
1743:
1702:
1660:
1650:
1595:
1523:
1510:
Ahmed ZM, Riazuddin S, Ahmad J, Bernstein SL, Guo Y, Sabar MF, et al. (December 2003).
1482:
1474:
1461:
Ahmed ZM, Riazuddin S, Bernstein SL, Ahmed Z, Khan S, Griffith AJ, et al. (July 2001).
405:
336:
280:
235:
156:
1765:
Ben-Yosef T, Ness SL, Madeo AC, Bar-Lev A, Wolfman JH, Ahmed ZM, et al. (April 2003).
1629:
Crouch DJ, Winney B, Koppen WP, Christmas WJ, Hutnik K, Day T, et al. (January 2018).
380:
1646:
1591:
1984:
1967:
1949:
1924:
1906:
1881:
1826:
1801:
1665:
1630:
1487:
1462:
1363:
1327:
708:
703:
698:
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688:
683:
678:
673:
668:
652:
647:
642:
637:
632:
627:
622:
617:
612:
596:
2084:
2037:
2013:
1323:
583:
1872:
1722:
1545:
140:
1615:
398:
177:
1940:
1631:"Genetics of the human face: Identification of large-effect single gene variants"
164:
1448:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1430:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1635:
Proceedings of the
National Academy of Sciences of the United States of America
481:
1856:
1800:
Zheng QY, Yan D, Ouyang XM, Du LL, Yu H, Chang B, et al. (January 2005).
297:
194:
144:
1748:
1731:
1897:
1655:
738:
541:
419:
364:
351:
263:
250:
152:
1993:
1958:
1915:
1864:
1835:
1792:
1757:
1714:
1674:
1607:
1537:
1496:
1318:
superfamily. Family members encode integral membrane proteins that mediate
119:, CDHR15, DFNB23, USH1F, protocadherin-related 15, protocadherin related 15
1767:"A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome"
1732:"Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F"
1280:
1275:
1966:
Le Guédard S, Faugère V, Malcolm S, Claustres M, Roux AF (January 2007).
1817:
1783:
1766:
1528:
1511:
1463:"Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F"
1351:
1315:
1264:
883:
864:
1599:
1343:
1319:
1296:
850:
805:
85:
81:
77:
73:
69:
1339:
1248:
760:
2025:
1478:
1706:
1347:
723:
719:
2033:
1303:
132:
1925:"A new spontaneous mutation in the mouse protocadherin 15 gene"
694:
homophilic cell adhesion via plasma membrane adhesion molecules
388:
2045:
2009:
GeneReviews/NCBI/NIH/UW entry on Usher
Syndrome Type I
1338:. It plays an essential role in maintenance of normal
553:
1157:
1068:
990:
901:
1404:
1402:
1400:
1383:
1381:
1379:
1326:. The protein product of this gene consists of a
335:
234:
16:Protein-coding gene in the species Homo sapiens
1409:GRCm38: Ensembl release 89: ENSMUSG00000052613
1330:, 11 extracellular calcium-binding domains, a
2065:
8:
1388:GRCh38: Ensembl release 89: ENSG00000150275
2072:
2058:
1154:
1065:
987:
898:
734:
579:
376:
275:
172:
58:
1983:
1948:
1905:
1825:
1782:
1747:
1664:
1654:
1527:
1486:
1346:function. It is thought to interact with
1559:
1557:
1555:
1375:
1565:"Entrez Gene: PCDH15 protocadherin 15"
18:
653:integral component of plasma membrane
340:
301:
296:
239:
198:
193:
7:
2022:
2020:
679:sensory perception of light stimulus
1771:The New England Journal of Medicine
2044:. You can help Knowledge (XXG) by
1467:American Journal of Human Genetics
874:
855:
829:
810:
784:
765:
558:
476:
414:
393:
14:
1299:that in humans is encoded by the
2024:
504:lumbar subsegment of spinal cord
324:
317:
311:
288:
223:
216:
210:
185:
2096:Human chromosome 10 gene stubs
674:photoreceptor cell maintenance
613:integral component of membrane
542:More reference expression data
1:
1314:This gene is a member of the
309:
208:
2091:Genes on human chromosome 10
1941:10.1016/j.heares.2006.06.010
1886:Journal of Medical Genetics
628:photoreceptor outer segment
2112:
2019:
709:nervous system development
1857:10.1007/s00439-004-1227-2
1444:"Mouse PubMed Reference:"
1426:"Human PubMed Reference:"
1279:
1274:
1270:
1263:
1247:
1228:
1181:
1092:
1061:
1014:
925:
894:
881:
877:
862:
858:
849:
836:
832:
817:
813:
804:
791:
787:
772:
768:
759:
744:
737:
733:
717:
582:
578:
566:
561:
552:
539:
488:
479:
450:anterior cingulate cortex
426:
417:
387:
379:
375:
358:
345:
308:
287:
278:
274:
257:
244:
207:
184:
175:
171:
126:
123:
113:
106:
101:
66:
61:
44:
39:
34:
30:
26:
21:
1806:Human Molecular Genetics
1736:Human Molecular Genetics
1516:Human Molecular Genetics
512:Rostral migratory stream
342:10 B5.3|10 37.43 cM
1898:10.1136/jmg.2006.041954
1656:10.1073/pnas.1708207114
1241:Chr 10: 73.1 – 74.65 Mb
1234:Chr 10: 53.8 – 55.63 Mb
1749:10.1093/hmg/10.16.1709
492:neural layer of retina
1358:Clinical significance
1322:-dependent cell-cell
669:inner ear development
528:primary visual cortex
303:Chromosome 10 (mouse)
201:Chromosome 10 (human)
1784:10.1056/NEJMoa021502
1332:transmembrane domain
618:extracellular region
438:right adrenal cortex
62:List of PDB id codes
35:Available structures
1647:2018PNAS..115E.676C
1600:10.1038/nature06091
1592:2007Natur.449...87K
704:cell-cell signaling
648:extracellular space
597:calcium ion binding
430:left adrenal cortex
2032:This article on a
1818:10.1093/hmg/ddi010
1529:10.1093/hmg/ddg358
1336:cytoplasmic domain
839:ENSMUSG00000052613
662:Biological process
606:Cellular component
590:Molecular function
516:epithelium of lens
466:anterior pituitary
454:right frontal lobe
165:PCDH15 - orthologs
2053:
2052:
1290:
1289:
1286:
1285:
1259:
1258:
1224:
1223:
1151:
1150:
1057:
1056:
984:
983:
890:
889:
871:
870:
845:
844:
826:
825:
800:
799:
781:
780:
729:
728:
689:equilibrioception
574:
573:
570:
569:
548:
547:
535:
534:
473:
472:
458:nucleus accumbens
371:
370:
270:
269:
97:
96:
93:
92:
45:Ortholog search:
2103:
2074:
2067:
2060:
2028:
2021:
1997:
1987:
1972:Molecular Vision
1962:
1952:
1929:Hearing Research
1919:
1909:
1876:
1839:
1829:
1796:
1786:
1761:
1751:
1726:
1679:
1678:
1668:
1658:
1641:(4): E676–E685.
1626:
1620:
1619:
1575:
1569:
1568:
1561:
1550:
1549:
1531:
1507:
1501:
1500:
1490:
1458:
1452:
1451:
1440:
1434:
1433:
1422:
1416:
1406:
1395:
1385:
1293:Protocadherin-15
1272:
1271:
1243:
1236:
1219:
1155:
1146:
1066:
1062:RefSeq (protein)
1052:
988:
979:
899:
875:
856:
830:
811:
785:
766:
735:
580:
559:
544:
520:Bowman's capsule
508:secondary oocyte
500:substantia nigra
484:
482:Top expressed in
477:
422:
420:Top expressed in
415:
394:
377:
367:
354:
343:
328:
321:
315:
304:
292:
276:
266:
253:
242:
227:
220:
214:
203:
189:
173:
167:
118:
111:
88:
59:
53:
32:
31:
19:
2111:
2110:
2106:
2105:
2104:
2102:
2101:
2100:
2081:
2080:
2079:
2078:
2005:
2000:
1965:
1935:(1–2): 110–20.
1922:
1879:
1842:
1799:
1777:(17): 1664–70.
1764:
1742:(16): 1709–18.
1729:
1695:Nature Genetics
1692:
1688:
1686:Further reading
1683:
1682:
1628:
1627:
1623:
1586:(7158): 87–91.
1577:
1576:
1572:
1563:
1562:
1553:
1522:(24): 3215–23.
1509:
1508:
1504:
1460:
1459:
1455:
1442:
1441:
1437:
1424:
1423:
1419:
1407:
1398:
1386:
1377:
1372:
1360:
1312:
1281:View/Edit Mouse
1276:View/Edit Human
1239:
1232:
1229:Location (UCSC)
1215:
1211:
1207:
1203:
1199:
1195:
1191:
1187:
1183:
1177:
1173:
1169:
1165:
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1130:
1126:
1122:
1118:
1114:
1110:
1106:
1102:
1098:
1094:
1088:
1084:
1080:
1076:
1072:
1048:
1044:
1040:
1036:
1032:
1028:
1024:
1020:
1016:
1010:
1006:
1002:
998:
994:
975:
971:
967:
963:
959:
955:
951:
947:
943:
939:
935:
931:
927:
921:
917:
913:
909:
905:
820:ENSG00000150275
713:
657:
623:plasma membrane
601:
540:
531:
526:
524:mammillary body
522:
518:
514:
510:
506:
502:
498:
494:
480:
469:
464:
460:
456:
452:
448:
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418:
362:
349:
341:
331:
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329:
322:
302:
279:Gene location (
261:
248:
240:
230:
229:
228:
221:
199:
176:Gene location (
127:
114:
107:
68:
46:
17:
12:
11:
5:
2109:
2107:
2099:
2098:
2093:
2083:
2082:
2077:
2076:
2069:
2062:
2054:
2051:
2050:
2029:
2018:
2017:
2011:
2004:
2003:External links
2001:
1999:
1998:
1963:
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1877:
1845:Human Genetics
1840:
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1502:
1479:10.1086/321277
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1368:
1364:Usher syndrome
1359:
1356:
1328:signal peptide
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2038:chromosome 10
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2012:
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1858:
1854:
1850:
1846:
1841:
1837:
1833:
1828:
1823:
1819:
1815:
1812:(1): 103–11.
1811:
1807:
1803:
1798:
1794:
1790:
1785:
1780:
1776:
1772:
1768:
1763:
1759:
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1733:
1728:
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1716:
1712:
1708:
1707:10.1038/83837
1704:
1701:(1): 99–102.
1700:
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1376:
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1365:
1357:
1355:
1353:
1349:
1345:
1341:
1337:
1334:and a unique
1333:
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1309:
1307:
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1001:
997:
993:
989:
986:
980:
978:
974:
970:
966:
962:
958:
954:
950:
946:
942:
938:
934:
930:
924:
920:
916:
912:
908:
904:
900:
897:
895:RefSeq (mRNA)
893:
886:
885:
880:
876:
873:
867:
866:
861:
857:
854:
852:
848:
841:
840:
835:
831:
828:
822:
821:
816:
812:
809:
807:
803:
796:
795:
790:
786:
783:
777:
776:
771:
767:
764:
762:
758:
755:
752:
750:
747:
743:
740:
736:
732:
725:
721:
716:
710:
707:
705:
702:
700:
699:cell adhesion
697:
695:
692:
690:
687:
685:
682:
680:
677:
675:
672:
670:
667:
666:
664:
661:
660:
654:
651:
649:
646:
644:
641:
639:
636:
634:
631:
629:
626:
624:
621:
619:
616:
614:
611:
610:
608:
605:
604:
598:
595:
594:
592:
589:
588:
585:
584:Gene ontology
581:
577:
565:
560:
557:
555:
551:
543:
538:
527:
523:
519:
515:
511:
507:
503:
499:
495:
491:
490:
487:
483:
478:
475:
465:
461:
457:
453:
449:
445:
441:
437:
433:
429:
428:
425:
421:
416:
413:
412:
409:
407:
403:
401:
400:
396:
395:
392:
390:
386:
382:
378:
374:
366:
361:
357:
353:
348:
338:
334:
327:
320:
314:
307:
299:
295:
291:
286:
282:
277:
273:
265:
260:
256:
252:
247:
237:
233:
226:
219:
213:
206:
202:
196:
192:
188:
183:
179:
174:
170:
166:
162:
158:
154:
150:
146:
142:
138:
134:
130:
122:
117:
110:
105:
100:
89:
87:
83:
79:
75:
71:
65:
60:
57:
56:
52:
49:
42:
38:
33:
29:
25:
20:
2046:expanding it
2031:
1975:
1971:
1932:
1928:
1892:(9): 763–8.
1889:
1885:
1851:(4): 292–9.
1848:
1844:
1809:
1805:
1774:
1770:
1739:
1735:
1698:
1694:
1638:
1634:
1624:
1583:
1579:
1573:
1519:
1515:
1505:
1473:(1): 25–34.
1470:
1466:
1456:
1447:
1438:
1429:
1420:
1361:
1313:
1300:
1292:
1291:
1213:NP_001136232
1209:NP_001136220
1205:NP_001136219
1201:NP_001136218
1197:NP_001136215
1193:NP_001136214
1189:NP_001136213
1185:NP_001136212
1182:
1175:NP_001136211
1171:NP_001136210
1167:NP_001136209
1163:NP_001136208
1159:NP_001136207
1144:NP_001371069
1140:NP_001341359
1136:NP_001341358
1132:NP_001341349
1128:NP_001341340
1124:NP_001341333
1116:NP_001136245
1112:NP_001136244
1108:NP_001136243
1104:NP_001136242
1100:NP_001136241
1096:NP_001136240
1093:
1086:NP_001136239
1082:NP_001136238
1078:NP_001136237
1074:NP_001136236
1070:NP_001136235
1046:NM_001142760
1042:NM_001142748
1038:NM_001142747
1034:NM_001142746
1030:NM_001142743
1026:NM_001142742
1022:NM_001142741
1018:NM_001142740
1015:
1008:NM_001142739
1004:NM_001142738
1000:NM_001142737
996:NM_001142736
992:NM_001142735
977:NM_001384140
973:NM_001354430
969:NM_001354429
965:NM_001354420
961:NM_001354411
957:NM_001354404
953:NM_001142773
949:NM_001142772
945:NM_001142771
941:NM_001142770
937:NM_001142769
933:NM_001142768
929:NM_001142767
926:
919:NM_001142766
915:NM_001142765
911:NM_001142764
907:NM_001142763
882:
863:
837:
818:
792:
773:
753:
748:
643:stereocilium
446:hypothalamus
404:
397:
124:External IDs
67:
1354:filaments.
363:74,649,737
350:73,099,342
262:55,627,942
249:53,802,771
102:Identifiers
2085:Categories
1415:, May 2017
1394:, May 2017
1370:References
462:C1 segment
408:(ortholog)
145:HomoloGene
2036:on human
1978:: 102–7.
1217:NP_075604
1120:NP_149045
1050:NM_023115
903:NM_033056
739:Orthologs
153:GeneCards
1994:17277737
1959:16887306
1916:16679490
1873:22812718
1865:15660226
1836:15537665
1793:12711741
1758:11487575
1723:32444699
1715:11138007
1675:29301965
1608:17805295
1546:14028314
1538:14570705
1497:11398101
1411:–
1390:–
1352:tip-link
1350:to form
1344:cochlear
1324:adhesion
1316:cadherin
1310:Function
1265:Wikidata
718:Sources:
638:membrane
442:amygdala
434:testicle
2014:PDBe-KB
1985:2533038
1950:2855306
1907:2564578
1827:2858222
1666:5789906
1643:Bibcode
1616:4414814
1588:Bibcode
1488:1226045
1413:Ensembl
1392:Ensembl
1340:retinal
1320:calcium
1297:protein
851:UniProt
806:Ensembl
745:Species
724:QuickGO
684:hearing
633:synapse
383:pattern
241:10q21.1
141:1891428
109:Aliases
1992:
1982:
1957:
1947:
1914:
1904:
1871:
1863:
1834:
1824:
1791:
1756:
1721:
1713:
1673:
1663:
1614:
1606:
1580:Nature
1544:
1536:
1495:
1485:
1301:PCDH15
1251:search
1249:PubMed
884:Q99PJ1
865:Q96QU1
761:Entrez
554:BioGPS
496:zygote
157:PCDH15
133:605514
116:PCDH15
22:PCDH15
2040:is a
1869:S2CID
1719:S2CID
1612:S2CID
1542:S2CID
1348:CDH23
1295:is a
794:11994
775:65217
754:Mouse
749:Human
720:Amigo
406:Mouse
399:Human
346:Start
281:Mouse
245:Start
178:Human
149:23401
2042:stub
2034:gene
1990:PMID
1955:PMID
1912:PMID
1861:PMID
1832:PMID
1789:PMID
1754:PMID
1711:PMID
1671:PMID
1604:PMID
1534:PMID
1493:PMID
1342:and
1304:gene
389:Bgee
337:Band
298:Chr.
236:Band
195:Chr.
129:OMIM
86:4AXW
82:4AQE
78:4AQA
74:4AQ8
70:4APX
51:RCSB
48:PDBe
1980:PMC
1945:PMC
1937:doi
1933:219
1902:PMC
1894:doi
1853:doi
1849:116
1822:PMC
1814:doi
1779:doi
1775:348
1744:doi
1703:doi
1661:PMC
1651:doi
1639:115
1596:doi
1584:449
1524:doi
1483:PMC
1475:doi
562:n/a
359:End
258:End
161:OMA
137:MGI
41:PDB
2087::
1988:.
1976:13
1974:.
1970:.
1953:.
1943:.
1931:.
1927:.
1910:.
1900:.
1890:43
1888:.
1884:.
1867:.
1859:.
1847:.
1830:.
1820:.
1810:14
1808:.
1804:.
1787:.
1773:.
1769:.
1752:.
1740:10
1738:.
1734:.
1717:.
1709:.
1699:27
1697:.
1669:.
1659:.
1649:.
1637:.
1633:.
1610:.
1602:.
1594:.
1582:.
1554:^
1540:.
1532:.
1520:12
1518:.
1514:.
1491:.
1481:.
1471:69
1469:.
1465:.
1446:.
1428:.
1399:^
1378:^
1306:.
722:/
365:bp
352:bp
264:bp
251:bp
159:;
155::
151:;
147::
143:;
139::
135:;
131::
84:,
80:,
76:,
72:,
2073:e
2066:t
2059:v
2048:.
1996:.
1961:.
1939::
1918:.
1896::
1875:.
1855::
1838:.
1816::
1795:.
1781::
1760:.
1746::
1725:.
1705::
1677:.
1653::
1645::
1618:.
1598::
1590::
1567:.
1548:.
1526::
1499:.
1477::
1450:.
1432:.
283:)
180:)
163::
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