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Table 1 Mutations in LIS1/PAFAH1B1 gene associated with cortical brain malformation available in ClinVar [10]. All mutations are associated with lissencephaly phenotype but two that are marked with *(associated with Subcortical band heterotopia) and ** (associated with abnormal cortical gyration)

From: Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report

Name Protein change Mutation type Accession GRCh37Location dbSNP ID
Likely Pathogenic
 c.1142A > G (p.His381Arg) H381R missense VCV000931583 2,583,597 rs2069361452
 c.967 T > A (p.Trp323Arg) W323R missense VCV000812182 2,579,865 rs2069271269
 c.900G > C (p.Glu300Asp) E300D missense VCV000436141 2,577,582 rs587784291
 c.121G > A (p.Glu41Lys) E41K missense VCV000159503 2,569,313 rs587784250
 c.503G > A (p.Cys168Tyr) C168Y missense VCV000159525 2,573,560 rs200390886
 c.569-3del   non coding VCV000211827 2,575,943 rs797045863
 c.671 + 4A > G   non coding VCV000159536 2,576,055 rs587784279
 c.671 + 5G > A   non coding VCV000159537 2,576,056 rs587784280
 c.751A > C (p.Ser251Arg) S251R missense VCV000159545 2,577,433 rs587784287
 c.900G > A (p.Glu300 =)   missense VCV000159550 2,577,582 rs587784291
 c.938C > T (p.Ser313Phe) S313F missense VCV000159552 2,579,836 rs587784293
 c.965 T > G (p.Met322Arg) M322R missense VCV000159553 2,579,863 rs587784294
 c.1193G > A (p.Gly398Asp) G398D missense VCV000159500 2,585,056 rs587784247
 NC_000017.11:g.(?_2638238)_(2638345_?)del   large deletion VCV000495279 2,541,532—2,541,639  
 NC_000017.11:g.(?_2680139)_(2681852_?)del   large deletion VCV000495278 2,583,433—2,585,146  
 c.899A > G (p.Glu300Gly) E300G missense VCV000436140 2,577,581 rs1555527149
 c.400-1G > A   splicing acceptor VCV001526061 2,573,456  
 c.661G > A (p.Val221Met) V221M missense VCV000931348 2,576,041 rs1262666760
 c.1009C > G (p.His337Asp) H337D missense VCV000159488 2,583,464 rs587784236
 c.1190C > T (p.Thr397Ile) T397I missense VCV000429277 2,585,053 rs1131691295
 c.722G > C (p.Arg241Pro)* R241P missense VCV000008080 2,577,404 rs121434488
Pathogenic
 c.441dup (p.Gly148fs) G148fs frame shift VCV000211825 2,573,495—2,573,496 rs797045861
 c.162dup (p.Trp55fs) W55fs frame shift VCV000021181 2,569,346—2,569,347 rs113994198
 c.770_772delinsTGACCCA (p.Thr257fs) T257fs frame shift VCV000211832 2,577,452—2,577,454 rs797045868
 c.716dup (p.Met239fs) M239fs frame shift VCV000159542 2,577,397—2,577,398 rs587784284
 c.1050del (p.Lys351fs) K351fs frame shift VCV000021176 2,583,500 rs113994200
 c.703_704del (p.Glu235fs) E235fs frame shift VCV000211829 2,577,382—2,577,383 rs797045865
 c.3G > A (p.Met1Ile) M1I missense VCV000159520 2,541,585 rs587784265
 c.33-3C > T   non coding VCV000159514 2,568,663 rs587784260
 c.37C > T (p.Arg13Ter) R13* stop gain VCV000159516 2,568,670 rs587784262
 c.56 T > G (p.Leu19Arg) L19R missense VCV000159529 2,568,689 rs587784272
 c.71_72dup (p.Glu25fs) E25fs frame shift VCV000211830 2,568,702—2,568,703 rs797045866
 c.72 T > G (p.Tyr24Ter) Y24* stop gain VCV000159543 2,568,705 rs587784285
 c.84 T > G (p.Tyr28Ter) Y28* stop gain VCV000159547 2,568,717 rs369259961
 c.136_137del (p.Lys46fs) K46fs frame shift VCV000159505 2,569,325—2,569,326 rs587784252
 c.152del (p.Leu51fs) L51fs frame shift VCV000159506 2,569,341 rs587784253
 c.190_192 + 5dup   splice donor VCV000211820 2,569,381—2,569,382 rs797045857
 c.192G > C (p.Lys64Asn) K64N missense VCV000159511 2,569,384 rs587784257
 c.192 + 1G > T   splice donor VCV000159510 2,569,385 rs587784256
 c.192 + 1G > A   splice donor VCV000159509 2,569,385 rs587784256
 c.288_289dup (p.Arg97fs) R97fs frame shift VCV000211821 2,570,378—2,570,379 rs797045858
 c.371 T > A (p.Val124Asp) V124D missense VCV000159515 2,570,464 rs587784261
 c.386A > T (p.Asp129Val) D129V missense VCV000159517 2,570,479 rs587784263
 c.399 + 1G > A   splice donor VCV000159519 2,570,493 rs587784264
 c.405G > A (p.Trp135Ter) W135* stop gain VCV000159521 2,573,462 rs587784266
 c.455_456del (p.Ser152fs) S152fs frame shift VCV000159523 2,573,510—2,573,511 rs587784268
 c.460C > T (p.Gln154Ter) Q154* stop gain VCV000159524 2,573,517 rs587784269
 c.484G > A (p.Gly162Ser) G162S missense VCV000008079 2,573,541 rs121434487
 c.524_528del (p.Lys175fs) K175fs frame shift VCV000159526 2,573,579—2,573,583 rs587784270
 c.537dup (p.Gln180fs) Q180fs frame shift VCV000211826 2,573,590—2,573,591 rs587784271
 c.537del (p.Gln180fs) Q180fs frame shift VCV000159527 2,573,591 rs587784271
 c.632C > G (p.Ser211Ter) S211* stop gain VCV000159530 2,576,012 rs587784273
 c.644_651del (p.Thr215fs) T215fs frame shift VCV000159531 2,576,018—2,576,025 rs587784274
 c.647_648del (p.Ile216fs) I216fs frame shift VCV000159532 2,576,025—2,576,026 rs587784275
 c.658del (p.Glu220fs) E220fs frame shift VCV000159534 2,576,036 rs587784277
 c.657G > A (p.Trp219Ter) W219* stop gain VCV000159533 2,576,037 rs587784276
 c.667dup (p.Thr223fs) T223fs frame shift VCV000211828 2,576,044—2,576,045 rs797045864
 c.664C > T (p.Gln222Ter) Q222* stop gain VCV000159535 2,576,044 rs587784278
 c.671G > A (p.Gly224Asp) G224D missense VCV000159538 2,576,051 rs587784281
 c.675C > G (p.Tyr225Ter) Y225* stop gain VCV000159539 2,577,357 rs587784282
 c.728_732dup (p.Asp245fs) D245fs frame shift VCV000211831 2,577,406—2,577,407 rs797045867
 c.730C > T (p.Gln244Ter) Q244* stop gain VCV000159544 2,577,412 rs587784286
 c.773_774del (p.Val258fs) V258fs frame shift VCV000211833 2,577,453—2,577,454 rs797045869
 c.829dup (p.His277fs) H277fs frame shift VCV000211834 2,577,510—2,577,511 rs797045870
 c.841 T > C (p.Cys281Arg) C281R missense VCV000159546 2,577,523 rs587784288
 c.851G > A (p.Trp284Ter) W284* stop gain VCV000159548 2,577,533 rs587784289
 c.900 + 1G > A   splice donor VCV000159549 2,577,583 rs587784290
 c.933dup (p.Leu312fs) L312fs frame shift VCV000211836 2,579,830—2,579,831 rs797045872
 c.1002 + 1G > A   splice donor VCV000021175 2,579,901 rs113994203
 c.1002 + 5G > A   non coding VCV000159486 2,579,905 rs587784235
 c.1003-30_1032del   splice acceptor VCV000211817 2,583,426—2,583,485 rs1555527743
 c.1009C > T (p.His337Tyr) H337Y missense VCV000159489 2,583,464 rs587784236
 c.1018dup (p.Trp340fs) W340fs frame shift VCV000211818 2,583,472—2,583,473 rs797045855
 c.1024_1031del (p.Arg342fs) R342fs frame shift VCV000159490 2,583,479—2,583,486 rs587784237
 c.1050dup (p.Lys351fs) K351fs frame shift VCV000021177 2,583,499—2,583,500 rs113994200
 c.1063del (p.Ser355fs) S355fs frame shift VCV000159491 2,583,518 rs587784238
 c.1064G > A (p.Ser355Asn) S355N missense VCV000159492 2,583,519 rs587784239
 c.1100del (p.Tyr367fs) Y367fs frame shift VCV000159493 2,583,555 rs587784240
 c.1135C > T (p.His379Tyr) H379Y missense VCV000159495 2,583,590 rs587784242
 c.1159G > T (p.Asp387Tyr) D387Y missense VCV000159497 2,583,614 rs587784244
 c.1165C > T (p.His389Tyr) H389Y missense VCV000159498 2,585,028 rs587784245
 c.1196G > C (p.Ser399Thr) S399T missense VCV000159501 2,585,059 rs587784248
 c.1201G > C (p.Asp401His) D401H missense VCV000159502 2,585,064 rs587784249
 c.1233A > C (p.Ter411Cys)   stop lost VCV000159504 2,585,096 rs587784251
 c.1111C > T (p.Arg371Ter) R371* stop gain VCV000159494 2,583,566 rs587784241
 c.568 + 1G > A   splice donor VCV000436137 2,573,626 rs1555526733
 c.162del (p.Lys54fs) K54fs frame shift VCV000021180 2,569,347 rs113994198
 c.265C > T (p.Arg89Ter) R89* stop gain VCV000159512 2,570,358 rs587784258
 c.817C > T (p.Arg273Ter) R273* stop gain VCV000008074 2,577,499 rs121434483
 c.305dup (p.Tyr102Ter) Y102* stop gain VCV000159513 2,570,397—2,570,398 rs587784259
 c.347dup (p.His117fs) H117fs frame shift VCV000211823 2,570,436—2,570,437 rs797045859
 c.368 T > A (p.Met123Lys)** M123K missense VCV001077134 2,570,461  
 c.523A > T (p.Lys175Ter) K175* stop gain VCV000209180 2,573,580 rs797045061
 c.910del (p.Ser304fs) S304fs frame shift VCV000159551 2,579,802 rs587784292
 c.911del (p.Ser304fs) S304fs frame shift VCV000211835 2,579,809 rs797045871
 c.852G > A (p.Trp284Ter) W284* stop gain VCV000561072 2,577,534 rs1567559851
 c.514dup (p.Met172fs) M172fs frame shift VCV000436136 2,573,570—2,573,571 rs1555526718
 c.430C > T (p.Arg144Ter) R144* stop gain VCV000159522 2,573,487 rs587784267
 c.1159 + 1G > A   splice donor VCV000379162 2,583,615 rs1057520515
 c.1159 + 2 T > A   splice donor VCV000159496 2,583,616 rs587784243
 c.569-10 T > C   non coding VCV000021182 2,575,939 rs113994202
 c.681dupG L228Glufs frame shift    this paper