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Results for the Protein: P98160
317373536

PGBM_HUMAN RecName: Full=Basement membrane-specific heparan sulfate proteoglycan core protein; Short=HSPG; AltName: Full=Perlecan; Short=PLC; Contains: RecName: Full=Endorepellin; Contains: RecName: Full=LG3 peptide; Flags: Precursor

Known Diseases associated with this Protein:
  SCHWARTZ-JAMPEL SYNDROME (SJS1)
  SCHWARTZ-JAMPEL SYNDROME, TYPE 1
2
26
1
18
9
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

SEA - smart00200
Ldl_recept_a - pfam00057
LDLa - smart00192
LDLa - cd00112
Ig5_Titin_like - cd05747
Ig5_NCAM-1_like - cd05732
I-set - pfam07679
Ig3_Contactin-1 - cd05851
Ig3_Contactin_like - cd04968
Ig1_NCAM-2 - cd05866
IG - smart00409
IG_like - smart00410
Ig2_FGFR_like - cd05729
V-set - pfam07686
Ig3_Peroxidasin - cd05745
IGc2 - smart00408
ig - pfam00047
Ig5_Contactin_like - cd04969
Ig4_Robo - cd05726
Ig4_L1-NrCAM_like - cd04978
Ig_Perlecan_D2_like - cd05743
Ig_2 - cd05764
Ig - cd00096
Ig3_Robo - cd05725
Ig4_Peroxidasin - cd05746
Ig3_L1-CAM - cd05876
LamB - smart00281
Laminin_B - pfam00052
EGF_Lam - cd00055
EGF_Lam - smart00180
Laminin_EGF - pfam00053
Ig3_Perlecan_like - cd05754
Ig2_FGFR - cd05857
Ig6_Contactin_like - cd04970
Ig_1 - cd05763
Ig3_NCAM-1_like - cd05730
Ig4_Contactin-2-like - cd05728
Ig2_Robo - cd05724
Ig_Semaphorin_C - cd04979
Ig2_FGFRL1-like - cd05856
Ig_3 - cd05765
Ig4_NrCAM - cd05868
Ig1_PVR_like - cd05718
Ig4_Neogenin - cd05723
Ig_Myotilin_C_like - cd05744
Ig3_L1-CAM_like - cd05731
Ig_Palladin_C - cd05893
Ig_Myomesin_like_C - cd05737
Ig_Sema4D_like - cd05873
Ig1_VEGFR_like - cd05742
Ig_Pro_neuregulin - cd05750
Ig1_FGFR - cd04973
Ig8_MLCK - cd05762
Ig2_PTK7 - cd05760
Ig_C5_MyBP-C - cd05894
Ig2_Follistatin_like - cd05736
Ig_CEACAM_D4 - cd05740
Ig6_L1-CAM_like - cd05733
Ig1_Robo - cd07693
Ig4_L1-CAM_like - cd05867
LamG - cd00110
LamG - smart00282
Laminin_G_1 - pfam00054
Laminin_G_2 - pfam02210
EGF - smart00181
EGF - cd00053
EGF_CA - cd00054
EGF_CA - smart00179
EGF - pfam00008


Swiss-Prot Protein: P98160
Identical to: NP_005520
   Default View:



































Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LDLacd001121.7e-13199234
LDLacd001125.4e-14285319
LDLacd001124.5e-13325359
LDLacd001127.7e-14368403
Ig5_Titin_likecd057473.2e-05403492
Ig5_NCAM-1_likecd057320.00022404491
Ig3_Contactin_likecd049682.6e-07406489
Ig3_Contactin-1cd058510.00024406497
Ig1_NCAM-2cd058663.4e-05409499
Ig2_FGFR_likecd057291.6e-05413488
Ig3_Peroxidasincd057451.1e-07420496
Ig5_Contactin_likecd049691.1e-05421498
Ig4_L1-NrCAM_likecd049781.5e-06421489
Ig_Perlecan_D2_likecd057439.8e-64421498
Ig4_Robocd057260.00085421500
Ig_2cd057640.00031421496
Igcd000963.1e-10424492
Ig3_Robocd057254e-05424488
Ig4_Peroxidasincd057460.00034424499
Ig3_L1-CAMcd058762.6e-05424497
EGF_Lamcd000555.1e-18763812
EGF_Lamcd000555.8e-10813870
EGF_Lamcd000550.00049878922
EGF_Lamcd000553.4e-1711581207
EGF_Lamcd000555e-1012081264
EGF_Lamcd000551.3e-1312741323
EGF_Lamcd000553.1e-1715621611
EGF_Lamcd000553e-1016121669
Ig3_Contactin_likecd049683.5e-0616761764
Ig3_Perlecan_likecd057540.0001316771762
Ig2_FGFR_likecd057290.0003316841763
Ig2_FGFRcd058570.000416881763
Igcd000964e-0716941760
Ig3_Robocd057252.1e-0516951763
Ig3_Perlecan_likecd057541.2e-6417711856
Ig3_Contactin_likecd049680.0003417731858
Ig5_Contactin_likecd049690.0001517861857
Ig6_Contactin_likecd049700.000417871861
Igcd000964.2e-1017891854
Ig3_Robocd057250.0002317891857
Ig3_Contactin_likecd049683e-0518651951
Ig3_Perlecan_likecd057548.8e-0818681949
Ig3_Peroxidasincd057455.3e-0918791950
Ig4_L1-NrCAM_likecd049781.6e-0518801951
Igcd000969.1e-0718831947
Ig3_Robocd057252.3e-0618831950
Ig_1cd057630.0001318831951
Ig3_NCAM-1_likecd057300.000119552045
Ig3_Contactin-1cd058510.0005519552043
Ig3_Contactin_likecd049683.9e-1019562041
Ig3_Perlecan_likecd057540.0002519572041
Ig4_Contactin-2-likecd057287.2e-0519582040
Ig_Semaphorin_Ccd049793.9e-0719602045
Ig2_Robocd057242e-0619602040
Ig2_FGFR_likecd057295.7e-0619652042
Ig2_FGFRL1-likecd058564.9e-0519652042
Ig2_FGFRcd058570.0002619672042
Ig3_Peroxidasincd057454.5e-0819692042
Ig5_Contactin_likecd049691.2e-0519702042
Ig4_L1-NrCAM_likecd049781.9e-0519702043
Ig_Perlecan_D2_likecd057434.2e-0519702040
Ig4_Robocd057261.7e-0719702051
Ig_2cd057643.4e-0619702042
Ig_3cd057656.3e-0519702042
Ig4_NrCAMcd058680.0006919702043
Ig1_PVR_likecd057180.0004619712043
Ig4_Neogenincd057234.8e-0519722042
Igcd000965.7e-1219732039
Ig3_Robocd057253.7e-0719732042
Ig3_L1-CAM_likecd057313.1e-0719732043
Ig_Myotilin_C_likecd057440.0005919732040
Ig4_Peroxidasincd057461.7e-0719732041
Ig_1cd057631.8e-1019732043
Ig_Palladin_Ccd058930.000619732040
Ig3_L1-CAMcd058760.0004419732043
Ig_Myomesin_like_Ccd057370.0007220532134
Ig2_FGFR_likecd057290.0001220542134
Ig_Semaphorin_Ccd049790.0006620552137
Ig_Sema4D_likecd058730.0007420552137
Ig2_FGFRcd058570.0007920612134
Ig3_Peroxidasincd057458.1e-0520642134
Ig1_VEGFR_likecd057420.0001520652135
Ig2_FGFRL1-likecd058560.000420652134
Igcd000961.9e-1220682131
Ig3_Robocd057250.0001620682134
Ig3_L1-CAM_likecd057312.8e-0720682135
Ig_Pro_neuregulincd057500.0009720682134
Ig3_L1-CAMcd058763.7e-0520682135
Ig2_FGFR_likecd057290.000321522235
Ig2_FGFRL1-likecd058560.0007521612235
Ig3_Peroxidasincd057452.4e-0621652235
Ig1_VEGFR_likecd057420.0001121662236
Igcd000961.9e-0821692240
Ig3_Robocd057250.0006921692235
Ig3_L1-CAMcd058760.0001821692236
Ig3_Contactin_likecd049680.0003322452324
Ig3_Peroxidasincd057450.0001222582328
Igcd000963.8e-0922622326
Ig3_Robocd057250.0003422622325
Ig3_L1-CAM_likecd057312.3e-0522622326
Ig_Pro_neuregulincd057500.0001322622325
Ig3_Peroxidasincd057450.0002323542424
Ig1_VEGFR_likecd057420.0002523552425
Igcd000962.8e-0623582421
Ig2_FGFR_likecd057290.0004324432520
Ig2_FGFRL1-likecd058560.0004924462520
Ig3_Peroxidasincd057451.5e-0924502520
Ig1_VEGFR_likecd057420.0002324512521
Igcd000965.2e-0924542517
Ig3_Robocd057250.0003324542520
Ig3_L1-CAMcd058760.0001224542521
Ig3_Perlecan_likecd057540.0007925342616
Ig1_FGFRcd049730.0008225402617
Ig2_FGFR_likecd057295e-0525402617
Ig3_Peroxidasincd057458.2e-0825472617
Ig1_VEGFR_likecd057428.7e-0625482618
Igcd000965.1e-1125512614
Ig3_Robocd057257.6e-0525512615
Ig3_L1-CAM_likecd057311.6e-0525512618
Ig_Pro_neuregulincd057500.0003325512615
Ig3_Peroxidasincd057454.8e-0926432713
Ig1_VEGFR_likecd057420.0002226442714
Igcd000962e-0826472710
Ig3_Robocd057250.0002826472713
Ig4_Peroxidasincd057460.0009926472712
Ig2_FGFR_likecd057290.0001127332810
Ig2_FGFRL1-likecd058560.0001727362810
Ig3_Peroxidasincd057450.0002727402810
Ig1_VEGFR_likecd057421.5e-0527412811
Igcd000969e-0927442807
Ig3_L1-CAMcd058760.00127442811
Ig3_Contactin_likecd049680.0005528272911
Ig_Semaphorin_Ccd049790.0007928312912
Ig2_FGFR_likecd057290.0002128362910
Ig2_FGFRL1-likecd058560.0002728362910
Ig3_Peroxidasincd057457.5e-0828402910
Igcd000961.7e-0728442907
Ig3_Robocd057250.0002528442910
Ig3_L1-CAMcd058760.0001328442911
Ig2_FGFR_likecd057290.000729313009
Ig3_Peroxidasincd057455.9e-0529383009
Ig1_VEGFR_likecd057420.000329393008
Igcd000961e-0829423006
Ig3_Robocd057250.0009629423009
Ig3_L1-CAM_likecd057315.2e-0629423010
Ig3_L1-CAMcd058760.000229423010
Ig8_MLCKcd057620.0003230223113
Igcd000961.2e-0730393105
Ig3_Contactin_likecd049681.2e-0631113203
Ig3_Contactin-1cd058513.4e-0531113203
Ig3_Perlecan_likecd057544e-0531133201
Ig2_FGFR_likecd057298.1e-0631193200
Ig2_FGFRcd058570.0001231243202
Ig3_Peroxidasincd057450.0005931273202
Ig4_Neogenincd057230.0003431293202
Igcd000964e-0931303199
Ig3_Robocd057250.00131303202
Ig3_L1-CAM_likecd057311.5e-0631303203
Ig2_PTK7cd057603.6e-0531303204
Ig3_L1-CAMcd058762.9e-0631303203
Ig5_NCAM-1_likecd057320.0003132103295
Ig3_NCAM-1_likecd057301e-0632113302
Ig3_Contactin-1cd058510.0003732113296
Ig3_Contactin_likecd049681.4e-0532123294
Ig3_Perlecan_likecd057543.9e-0532133294
Ig_C5_MyBP-Ccd058946.5e-0532163295
Ig2_FGFR_likecd057295.8e-0832183295
Ig2_FGFRL1-likecd058564.7e-0532183295
Ig2_FGFRcd058571.5e-0532213295
Ig3_Peroxidasincd057456e-1132253295
Ig5_Contactin_likecd049697.8e-0532263295
Ig4_L1-NrCAM_likecd049789.7e-0632263296
Ig_2cd057641.8e-0732263295
Ig4_NrCAMcd058680.000532263296
Igcd000963e-1332293311
Ig3_Robocd057251.3e-0832293295
Ig3_L1-CAM_likecd057311.1e-0632293296
Ig2_Follistatin_likecd057360.0001632293298
Ig_1cd057638.5e-0532293296
Ig3_L1-CAMcd058762.6e-0532293296
Ig3_Contactin_likecd049681.3e-0632983383
Ig3_Perlecan_likecd057543e-0533003381
Ig4_Contactin-2-likecd057283.6e-0533023382
Ig2_FGFR_likecd057296.2e-0833043382
Ig2_FGFRcd058571.8e-0533073382
Ig2_FGFRL1-likecd058560.0002233083382
Ig3_Peroxidasincd057452.6e-0633123382
Ig4_L1-NrCAM_likecd049780.0003533133383
Ig4_Neogenincd057230.0009233153382
Igcd000962.8e-1033163379
Ig3_Robocd057257.4e-0633163382
Ig3_L1-CAMcd058760.0008933163383
Ig_Pro_neuregulincd057500.0006233183380
Ig3_Contactin_likecd049680.0001634003484
Ig3_Peroxidasincd057458.7e-0534143483
Ig4_Neogenincd057230.0005534163483
Igcd000968.4e-1034173480
Ig3_Robocd057253.8e-1134173483
Ig3_NCAM-1_likecd057305.3e-0534863575
Ig_CEACAM_D4cd057400.0003234863574
Ig3_Contactin_likecd049686.5e-1134873573
Ig3_Contactin-1cd058512.6e-0934883573
Ig3_Perlecan_likecd057542.5e-0534893571
Ig2_Robocd057247.3e-0734933572
Ig4_Contactin-2-likecd057288.6e-0534933572
Ig2_FGFR_likecd057295e-0634953572
Ig2_FGFRL1-likecd058560.0007634953568
Ig5_Contactin_likecd049693.5e-0635033572
Ig4_L1-NrCAM_likecd049780.0002435033569
Ig3_Peroxidasincd057457e-1535033572
Ig_2cd057643.8e-0535033572
Ig_3cd057651.4e-0535033572
Ig4_Neogenincd057230.0003935053572
Igcd000962.9e-1235063569
Ig3_Robocd057251.9e-0635063572
Ig3_L1-CAM_likecd057317.8e-0835063573
Ig6_L1-CAM_likecd057330.0008535063572
Ig2_Follistatin_likecd057360.0002135063575
Ig4_Peroxidasincd057463.6e-0735063571
Ig_1cd057631.9e-0835063573
Ig3_L1-CAMcd058763.1e-0535063573
Ig5_NCAM-1_likecd057320.000235743658
Ig3_Contactin-1cd058510.0005935753659
Ig1_Robocd076931.5e-0535753659
Ig3_Contactin_likecd049683.9e-0935763659
Ig4_Contactin-2-likecd057280.0001935783658
Ig3_Perlecan_likecd057541.7e-0735783657
Ig2_Robocd057249.4e-0835793658
Ig2_FGFR_likecd057291.2e-1035813658
Ig2_FGFRL1-likecd058561.3e-1135813658
Ig2_FGFRcd058571.1e-0535863658
Ig3_Peroxidasincd057456.3e-0835883658
Ig5_Contactin_likecd049696.6e-0635893658
Ig4_L1-NrCAM_likecd049784.8e-0735893659
Ig_Perlecan_D2_likecd057433.2e-0535893658
Ig_3cd057654.4e-0535893658
Ig4_L1-CAM_likecd058679.4e-0535893659
Ig4_Neogenincd057230.0001435913658
Igcd000963.1e-1235923655
Ig3_Robocd057254.1e-1435923658
Ig_1cd057633.9e-0835923659
Ig3_L1-CAMcd058762.6e-0735923659
Ig3_L1-CAM_likecd057311e-0935963659
LamGcd001101.4e-3836633826
EGFcd000533.2e-1138473881
EGF_CAcd000544.3e-0638483881
EGFcd000537.7e-0638873922
LamGcd001104.2e-4539244083
EGFcd000537.9e-0941074141
EGF_CAcd000540.0003441434176
EGFcd000530.0004141464176
LamGcd001102.5e-4342034362
Ldl_recept_apfam000575e-12197234
Ldl_recept_apfam000571.1e-12283319
Ldl_recept_apfam000572.3e-13323359
Ldl_recept_apfam000571.5e-10366403
igpfam000473.8e-07421481
Laminin_Bpfam000528.9e-21595729
Laminin_EGFpfam000532.2e-17764811
Laminin_EGFpfam000531.2e-07814869
Laminin_Bpfam000521.7e-369901124
Laminin_EGFpfam000535.7e-1611591206
Laminin_EGFpfam000531.1e-0512091263
Laminin_EGFpfam000532.9e-1312751322
Laminin_Bpfam000523.2e-3713961528
Laminin_EGFpfam000532.6e-1415631610
Laminin_EGFpfam000531.7e-0616131668
igpfam000476.8e-1016911748
igpfam000472.4e-0617861842
igpfam000471e-1119702027
igpfam000472.2e-1120652119
igpfam000475.7e-1121662220
igpfam000471.9e-0922592313
igpfam000471.8e-0823552409
igpfam000473.2e-1124512505
igpfam000471.3e-0925482602
igpfam000471.7e-1126442698
igpfam000471.1e-1027412795
igpfam000472.5e-1028412895
igpfam000478e-1129392993
igpfam000470.0001430363093
igpfam000471.7e-0932263280
igpfam000479.9e-1033133367
igpfam000474.7e-0734143468
igpfam000470.000235033557
igpfam000472.5e-0735893643
Laminin_G_1pfam000549.2e-2836923831
Laminin_G_2pfam022101.6e-3236923828
EGFpfam000082.4e-0838483879
EGFpfam000080.0004738883920
Laminin_G_1pfam000543.4e-3939574088
Laminin_G_2pfam022101e-3639574085
EGFpfam000084.1e-0641084139
Laminin_G_1pfam000543.2e-3542344367
Laminin_G_2pfam022103.6e-4042344364
SEAsmart002008e-2880194
LDLasmart001922.1e-11198231
LDLasmart001929.4e-14284316
LDLasmart001921.2e-11324356
LDLasmart001921.4e-12367400
I-setpfam076792.2e-12406484
IG_likesmart004108.7e-18413500
IGsmart004098.7e-18413500
V-setpfam076867.9e-05415499
IGc2smart004081.5e-13420486
LamBsmart002813.1e-57590717
EGF_Lamsmart001801.6e-18764811
EGF_Lamsmart001801.3e-05814869
EGF_Lamsmart001800.0005879921
LamBsmart002812.7e-649851112
EGF_Lamsmart001801.7e-1711591206
EGF_Lamsmart001805.9e-0912091263
EGF_Lamsmart001801.4e-1412751322
LamBsmart002811.3e-6413911516
EGF_Lamsmart001803.2e-1615631610
EGF_Lamsmart001807.6e-0916131668
I-setpfam076793.3e-1216771763
IG_likesmart004101.5e-1616831764
IGsmart004091.5e-1616831764
V-setpfam076867.4e-0516851763
IGc2smart004082.1e-0916901753
I-setpfam076791.5e-0517711857
IG_likesmart004105e-1717781858
IGsmart004095e-1717781858
V-setpfam076861.7e-0517801857
IGc2smart004086.6e-1017851847
I-setpfam076791.2e-1318661950
IG_likesmart004107.3e-1518721951
IGsmart004097.3e-1518721951
IGc2smart004082.8e-1118791940
I-setpfam076791.6e-1519562042
IG_likesmart004109.4e-1719622043
IGsmart004099.4e-1719622043
IGc2smart004089e-1619692032
I-setpfam076791.3e-1220512134
IG_likesmart004104.3e-1920572135
IGsmart004094.3e-1920572135
V-setpfam076864.9e-0520592134
IGc2smart004089.7e-1720642124
I-setpfam076793.1e-0721522235
IG_likesmart004107.2e-1621582236
IGsmart004097.2e-1621582236
V-setpfam076860.0008721602235
IGc2smart004083.4e-1221652225
I-setpfam076794.1e-1222452325
IG_likesmart004103.8e-1622512326
IGsmart004093.8e-1622512326
IGc2smart004087.9e-1322582318
I-setpfam076795.1e-0723412424
IG_likesmart004101.5e-1323472425
IGsmart004091.5e-1323472425
IGc2smart004082.7e-1123542414
I-setpfam076792.7e-1424372520
IG_likesmart004108.9e-1724432521
IGsmart004098.9e-1724432521
V-setpfam076860.0008424452520
IGc2smart004081.6e-1424502510
I-setpfam076791e-0825342617
IG_likesmart004102.7e-1525402618
IGsmart004092.7e-1525402618
V-setpfam076860.0003425422615
IGc2smart004081.5e-1225472607
I-setpfam076793.5e-0726302713
IG_likesmart004102.5e-1426362714
IGsmart004092.5e-1426362714
IGc2smart004086.4e-1426432703
I-setpfam076794.2e-0727272810
IG_likesmart004103.8e-1527332811
IGsmart004093.8e-1527332811
V-setpfam076860.0004427352810
IGc2smart004089.4e-1227402800
I-setpfam076792.3e-1228272910
IG_likesmart004104e-1728332911
IGsmart004094e-1728332911
V-setpfam076860.0003628352910
IGc2smart004088.2e-1328402900
I-setpfam076792.3e-0629253009
IG_likesmart004103.3e-1429313010
IGsmart004093.3e-1429313010
V-setpfam076860.000229333009
IGc2smart004084e-1229382998
I-setpfam076791.2e-0930223108
IG_likesmart004102.2e-1430283109
IGsmart004092.2e-1430283109
V-setpfam076860.0009530303108
I-setpfam076795.2e-0731123202
IG_likesmart004101.1e-1531193203
IGsmart004091.1e-1531193203
V-setpfam076860.0001131213202
IGc2smart004081.2e-1131263192
I-setpfam076792.1e-1632123295
IG_likesmart004101.3e-1532183296
IGsmart004091.3e-1532183296
IGc2smart004089.4e-1532253285
I-setpfam076795e-1932993382
IG_likesmart004108.3e-1833053383
IGsmart004098.3e-1833053383
V-setpfam076860.0009533073382
IGc2smart004087e-1533123372
I-setpfam076791.6e-0634003483
IG_likesmart004107.6e-1334063484
IGsmart004097.6e-1334063484
IGc2smart004084.8e-0734133473
I-setpfam076791.2e-1434893572
IG_likesmart004107.3e-1734953573
IGsmart004097.3e-1734953573
IGc2smart004082.5e-1635023562
I-setpfam076791.6e-1535763658
IG_likesmart004101.7e-1735813659
IGsmart004091.7e-1735813659
IGc2smart004081e-1335883648
LamGsmart002825e-4136843828
EGFsmart001811.3e-0938473881
EGF_CAsmart001794.3e-0538483881
EGFsmart001810.000138873922
LamGsmart002822.4e-4439494085
EGFsmart001815.2e-0841074141
EGF_CAsmart001790.0002241434176
EGFsmart001810.0001441464176
LamGsmart002823.3e-4242264364

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2228349 Polymorphismp.ALA3168THRN/A
dbSNPrs897471 Polymorphismp.ALA1503VALN/A
dbSNPrs74859884 Polymorphismp.ALA4071VALN/A
Swiss-ProtVAR_047985Polymorphismp.ARG1919CYSN/A
dbSNPrs2229481 Polymorphismp.ARG1186GLNN/A
Swiss-ProtVAR_047984Polymorphismp.ARG1758GLNN/A
Swiss-ProtVAR_047993Polymorphismp.ARG3632GLNN/A
dbSNPrs2229493 Polymorphismp.ARG3632LEUN/A
dbSNPrs2270699 Polymorphismp.ARG3530TRPN/A
dbSNPrs62618730 Polymorphismp.ASN957HISN/A
dbSNPrs989994 Polymorphismp.ASN765SERN/A
Swiss-ProtVAR_047979Polymorphismp.ASP68GLUN/A
Swiss-ProtVAR_014122Diseasep.CYS1532TYRSchwartz-Jampel syndrome (SJS1)
dbSNPrs28546127 Polymorphismp.GLY1230ARGN/A
dbSNPrs35669711 Polymorphismp.GLY2225SERN/A
dbSNPrs2291827 Polymorphismp.HIS3256TYRN/A
dbSNPrs2229489 Polymorphismp.LEU2980HISN/A
Swiss-ProtVAR_057051Polymorphismp.LEU303HISN/A
Swiss-ProtVAR_057052Polymorphismp.LEU1323VALN/A
dbSNPrs1874792 Polymorphismp.MET638VALN/A
dbSNPrs3736360 Polymorphismp.SER4331ASNN/A
dbSNPrs2229491 Polymorphismp.SER2995CYSN/A
Swiss-ProtVAR_047989Polymorphismp.SER2995GLYN/A
dbSNPrs2229475 Polymorphismp.VAL1967ILEN/A
Swiss-ProtVAR_047988Polymorphismp.VAL2981ILEN/A
dbSNPrs17459097 Polymorphismp.VAL3640ILEN/A
dbSNPrs1138469 Polymorphismp.VAL4332ILEN/A
OMIM142461.0002 Diseasep.CYS1532TYRSCHWARTZ-JAMPEL SYNDROME, TYPE 1



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