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Results for the Protein: NP_596870
110349721
TTN

titin isoform novex-3 [Homo sapiens]

Known Diseases associated with this Protein:
  CARDIOMYOPATHY, DILATED, 1G
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
  HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE
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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:

Ig5_Titin_like - cd05747
Ig3_NCAM-1_like - cd05730
I-set - pfam07679
Ig2_Robo - cd05724
IG - smart00409
IG_like - smart00410
Ig_Myomesin_like_C - cd05737
IGc2 - smart00408
Ig5_Contactin_like - cd04969
Ig_Titin_like - cd05748
Ig2_PTK7 - cd05760
Ig - cd00096
Ig_Myotilin_C - cd05892
Ig_Myotilin_C_like - cd05744
Ig2_FGFR_like - cd05729
Ig_C5_MyBP-C - cd05894
Ig4_Neogenin - cd05723
Ig4_Peroxidasin - cd05746
Ig_Palladin_C - cd05893
Ig_Pro_neuregulin - cd05750
Titin_Z - pfam09042
Ig5_NCAM-1 - cd05869
Ig5_NCAM-2 - cd05870
Ig5_NCAM-1_like - cd05732
Ig5_KIRREL3-like - cd05758
Ig3_Contactin_like - cd04968
Ig3_Contactin-1 - cd05851
Ig_M-protein_C - cd05891
Ig4_Contactin-2-like - cd05728
V-set - pfam07686
Ig2_FGFRL1-like - cd05856
Ig3_Peroxidasin - cd05745
Ig_2 - cd05764
Ig_3 - cd05765
ig - pfam00047
Ig3_Robo - cd05725
Ig3_L1-CAM - cd05876
Ig_1 - cd05763
Ig2_Follistatin_like - cd05736
Ig2_FGFR - cd05857
Ig5_Contactin-1 - cd05852
Ig2_VEGFR - cd04976
Ig_TrkABC_d4 - cd04972
Ig4_L1-NrCAM_like - cd04978
Ig1_Robo - cd07693
Ig4_PDGFR-alpha - cd05859
Ig_Perlecan_D2_like - cd05743
Ig3_L1-CAM_like - cd05731
Ig1_Neogenin - cd05722


RefSeq Protein: NP_596870
   Default View:








































Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ig3_NCAM-1_likecd057300.000136100
Ig2_Robocd057245.7e-07997
Ig_Myomesin_like_Ccd057370.00011597
Ig5_Contactin_likecd049690.000732097
Ig_Titin_likecd057482.9e-152297
Igcd000962.5e-102394
Ig_Myotilin_C_likecd057440.000312397
Ig2_PTK7cd057600.0003223102
Ig_Myotilin_Ccd058920.000322397
Ig5_Titin_likecd057471.7e-06101192
Ig2_FGFR_likecd057297.6e-05110193
Ig_C5_MyBP-Ccd058947.4e-06111193
Ig4_Neogenincd057233.2e-14120193
Ig_Titin_likecd057487.4e-10120193
Igcd000961.2e-07121190
Ig_Myotilin_C_likecd057440.00021121193
Ig4_Peroxidasincd057466.3e-06121192
Ig2_PTK7cd057600.0004121198
Ig_Palladin_Ccd058936.7e-06121193
Ig_Pro_neuregulincd057500.00094123191
Ig5_NCAM-1_likecd057327e-089401032
Ig5_Titin_likecd057478.5e-099401031
Ig5_NCAM-2cd058703.5e-059401032
Ig5_NCAM-1cd058690.000139401032
Ig5_KIRREL3-likecd057580.000159411031
Ig3_Contactin_likecd049682e-059421033
Ig3_NCAM-1_likecd057301.2e-069421035
Ig3_Contactin-1cd058510.00019421033
Ig_Myomesin_like_Ccd057374.4e-069431026
Ig_M-protein_Ccd058912.4e-089441032
Ig4_Contactin-2-likecd057280.000149461032
Ig2_FGFR_likecd057291.1e-059491032
Ig2_Robocd057243.1e-089501032
Ig2_FGFRL1-likecd058560.0019521032
Ig_C5_MyBP-Ccd058942.9e-069521034
Ig3_Peroxidasincd057452.2e-089561032
Ig5_Contactin_likecd049698.3e-059571032
Ig_3cd057652.9e-089571032
Ig_2cd057640.000339571032
Ig4_Neogenincd057235.4e-129591032
Ig_Titin_likecd057481.6e-059591034
Igcd000961.3e-139601029
Ig3_Robocd057250.000379601032
Ig2_Follistatin_likecd057363.6e-069601035
Ig_Myotilin_C_likecd057444.2e-099601032
Ig4_Peroxidasincd057468.4e-109601031
Ig2_PTK7cd057605e-109601037
Ig_1cd057638.5e-069601033
Ig_Pro_neuregulincd057500.000669601030
Ig3_L1-CAMcd058760.0019601033
Ig_Palladin_Ccd058937.7e-129601032
Ig_Myotilin_Ccd058922.5e-089601032
Ig5_Titin_likecd057471.6e-0910791172
Ig_M-protein_Ccd058910.00110811173
Ig4_Contactin-2-likecd057285.7e-0510831173
Ig3_NCAM-1_likecd057300.0001110871176
Ig2_FGFR_likecd057292.5e-0510871173
Ig_Myomesin_like_Ccd057376.1e-0510881171
Ig2_FGFRcd058570.0002510911173
Ig3_Peroxidasincd057450.0003610951173
Ig5_Contactin_likecd049690.00110961173
Ig4_Neogenincd057234.4e-0510981173
Ig_Titin_likecd057480.00110981173
Igcd000966.5e-1010991170
Ig3_Robocd057253.1e-0510991173
Ig_Myotilin_C_likecd057440.0004710991173
Ig4_Peroxidasincd057468e-0710991172
Ig_Pro_neuregulincd057500.0001610991171
Ig_Palladin_Ccd058930.0001410991173
Ig3_Contactin_likecd049683.3e-0612871382
Ig3_Contactin-1cd058514.5e-0512901382
Ig2_FGFRcd058574.1e-0512981381
Ig2_FGFR_likecd057291.2e-0513001381
Ig2_FGFRL1-likecd058560.0006713001381
Ig3_Peroxidasincd057451.1e-0813041381
Ig5_Contactin_likecd049691e-0613051381
Ig5_Contactin-1cd058520.0002213051381
Ig4_Neogenincd057231.6e-0513071381
Igcd000965.4e-1113081378
Ig3_Robocd057254e-0613081381
Ig2_Follistatin_likecd057360.0002613081384
Ig_Myotilin_C_likecd057446e-0513081381
Ig_Pro_neuregulincd057500.0003713081379
Ig_Palladin_Ccd058930.0003313081381
Ig_Myotilin_Ccd058920.000113081381
Ig5_Titin_likecd057476.3e-0614571546
Ig_M-protein_Ccd058910.000114581547
Ig2_FGFR_likecd057294.5e-0514621549
Ig3_Peroxidasincd057450.0004914701547
Ig_2cd057640.0002914711547
Ig_Titin_likecd057480.0002414731547
Igcd000962.7e-0614741544
Ig2_VEGFRcd049760.0002714741547
Ig_Myotilin_C_likecd057440.00114741547
Ig_Palladin_Ccd058931.5e-0514741547
Ig3_Contactin_likecd049680.0002315551648
Ig_M-protein_Ccd058910.0001415571647
Ig2_FGFR_likecd057293.1e-0615601647
Ig2_FGFRL1-likecd058561.4e-0515631647
Ig_Myomesin_like_Ccd057377.8e-0515651647
Ig_Myotilin_Ccd058920.0002415711647
Igcd000961.1e-0515731646
Ig_Pro_neuregulincd057501.8e-0515731645
Igcd000961.9e-0517201791
Ig4_Neogenincd057230.0002917221794
Ig5_Titin_likecd057473.6e-0918381928
Ig_TrkABC_d4cd049727.6e-0618411929
Ig_M-protein_Ccd058910.0006818431929
Ig2_FGFR_likecd057290.000118501929
Ig2_FGFRcd058578.5e-0518521929
Ig3_Peroxidasincd057456.4e-0518541929
Ig4_L1-NrCAM_likecd049780.0002218551921
Ig_2cd057640.0003918551929
Igcd000966.8e-0718581926
Ig3_Robocd057250.0008318581929
Ig4_Neogenincd057239.8e-0518601929
Ig3_NCAM-1_likecd057300.0001520772171
Ig2_FGFR_likecd057290.0009220822168
Ig_Titin_likecd057480.0005220942168
Ig2_VEGFRcd049760.0007120952169
Ig2_Follistatin_likecd057360.0009620952171
Igcd000960.0003221922267
Ig4_Neogenincd057238.4e-0524612530
Igcd000960.0007924622531
Ig4_Neogenincd057230.0001429012966
Igcd000960.0005429843054
Ig_Pro_neuregulincd057500.000529893051
Ig2_FGFRcd058570.0006230683142
Ig2_FGFR_likecd057290.0001530713142
Ig4_Neogenincd057230.0003130743142
Igcd000961.4e-0530753143
Ig_Myotilin_C_likecd057440.0005330753142
Ig_Titin_likecd057480.0005430763146
Ig3_NCAM-1_likecd057300.0008832383331
Ig1_Robocd076935e-0732383329
Ig_Myomesin_like_Ccd057373e-0532393328
Ig2_FGFRL1-likecd058560.0002132393330
Ig2_FGFR_likecd057291.9e-0532453330
Ig2_FGFRcd058570.0007432483328
Ig_Titin_likecd057480.0001232553330
Igcd000962e-0832563327
Ig3_Robocd057255.1e-0532563328
Ig_Myotilin_C_likecd057443.4e-0532563328
Ig_Palladin_Ccd058932.8e-0632563328
Ig_Myotilin_Ccd058920.0002732563328
Ig4_Neogenincd057231.4e-0532583328
Ig5_Contactin_likecd049690.0001132603328
Ig5_Titin_likecd057474.2e-0533423432
Ig2_FGFR_likecd057291.3e-0533443433
Igcd000964.5e-0833623430
Ig3_Robocd057250.0001533623433
Ig4_Neogenincd057239.1e-1333643433
Ig5_Titin_likecd057477.6e-0635013596
Ig2_FGFR_likecd057290.0009335133597
Ig3_Peroxidasincd057450.000435173597
Ig5_Contactin_likecd049690.0003735183597
Ig4_Neogenincd057230.0003235203597
Ig_Titin_likecd057484.9e-0535203597
Igcd000961.7e-1035213594
Ig3_Robocd057257.6e-0535213597
Ig5_Titin_likecd057479.2e-0739414032
Ig4_PDGFR-alphacd058590.0006639414035
Ig3_NCAM-1_likecd057303.1e-0539434036
Ig2_FGFR_likecd057291.1e-0539504033
Ig2_FGFRcd058570.0002439554033
Ig3_Peroxidasincd057451.7e-0539574033
Ig_Perlecan_D2_likecd057430.0001439584033
Igcd000965.2e-0839614030
Ig2_Follistatin_likecd057360.000239614036
Ig4_Neogenincd057230.0001639634033
Ig3_NCAM-1_likecd057302.8e-0541574251
Ig3_Contactin_likecd049685.4e-0541584249
Ig_Myomesin_like_Ccd057374.9e-0641584250
Ig5_Titin_likecd057471.7e-0841584247
Ig_M-protein_Ccd058913.2e-0541594250
Ig4_Contactin-2-likecd057284.7e-0741624248
Ig2_Robocd057241.3e-0741634248
Ig2_FGFR_likecd057299.3e-1041644248
Ig2_FGFRcd058573.8e-0541674248
Ig2_FGFRL1-likecd058561.4e-0541684248
Ig3_Peroxidasincd057452.2e-0841724248
Ig5_Contactin_likecd049697.2e-0641734248
Ig4_L1-NrCAM_likecd049785.1e-0541734243
Ig_3cd057658.4e-0741734248
Ig4_Neogenincd057237.5e-1141754248
Ig_Titin_likecd057481e-0741754248
Igcd000963.3e-1141764245
Ig3_Robocd057250.000141764248
Ig3_L1-CAM_likecd057315.8e-0741764249
Ig_Myotilin_C_likecd057440.0002641764248
Ig4_Peroxidasincd057462.8e-1141764247
Ig2_PTK7cd057609.1e-0641764253
Ig_1cd057635.3e-0641764249
Ig_Pro_neuregulincd057500.0003941764246
Ig3_L1-CAMcd058762.5e-0541764249
Ig_Myotilin_Ccd058920.0001541764248
Ig2_Follistatin_likecd057362.3e-0941784251
Ig2_FGFR_likecd057297e-0551915272
Ig3_Peroxidasincd057451.6e-0651965272
Ig4_Neogenincd057231.1e-0551995272
Ig_Titin_likecd057480.000151995272
Igcd000965.4e-0552005269
Ig3_Robocd057250.0005552005272
Ig5_Contactin_likecd049692e-0552015272
Ig2_Follistatin_likecd057360.0009752065275
Ig2_FGFR_likecd057294.8e-0653895463
Ig3_Peroxidasincd057455.8e-0553935470
Ig4_Neogenincd057231e-0553965470
Igcd000966.5e-0653975468
Ig3_Robocd057253.5e-0653975470
Ig2_Follistatin_likecd057360.0001753975473
Ig_Pro_neuregulincd057500.0007953975468
Ig3_L1-CAMcd058760.00153975471
Ig3_NCAM-1_likecd057300.0005655135600
Ig1_Robocd076932.2e-0655135604
Ig4_Contactin-2-likecd057285.6e-0755155603
Ig1_Neogenincd057220.000455155603
Ig2_Robocd057241.4e-0855215603
Ig2_FGFR_likecd057292.2e-0655255603
Ig2_FGFRcd058571.9e-0555255603
Ig5_Contactin_likecd049691.1e-0755285603
Ig3_Peroxidasincd057457.9e-0755285603
Ig_2cd057640.0003455285603
Ig4_Neogenincd057236.2e-1255305603
Igcd000962e-1255315602
Ig3_Robocd057253.4e-0755315603
Ig_Myotilin_C_likecd057446.1e-0555315603
Ig4_Peroxidasincd057461.1e-0655315602
Ig_1cd057632.8e-0555315604
Ig_Myotilin_Ccd058920.0006555315603
Ig_Titin_likecd057480.0001455375603
igpfam000471.6e-079571017
igpfam000471.6e-0613051366
igpfam000473.4e-0621892248
igpfam000470.0003430723131
igpfam000470.0001833593418
igpfam000470.0006439584018
igpfam000471.9e-0941734233
igpfam000471.4e-0855285588
I-setpfam076792.6e-37697
IGsmart004094.2e-181298
IG_likesmart004104.2e-181298
IGc2smart004084.2e-081987
I-setpfam076795.1e-31104193
IGsmart004095.8e-16110194
IG_likesmart004105.8e-16110194
IGc2smart004080.00079117183
Titin_Zpfam090422.5e-14413455
Titin_Zpfam090423.5e-18464505
Titin_Zpfam090428e-15510549
Titin_Zpfam090421.1e-15552593
Titin_Zpfam090422.8e-19598639
Titin_Zpfam090426.2e-17644685
I-setpfam076792.8e-309431032
IGsmart004092.9e-199491033
IG_likesmart004102.9e-199491033
V-setpfam076860.000139511034
IGc2smart004081.6e-159561022
I-setpfam076798.6e-2310821173
IGsmart004094.8e-1210881174
IG_likesmart004104.8e-1210881174
IGc2smart004086.7e-0610951163
I-setpfam076792.8e-1512911381
IGsmart004092.4e-1312971382
IG_likesmart004102.4e-1312971382
IGc2smart004086.4e-0913041371
I-setpfam076791.4e-2414571547
IGsmart004092.1e-0814631548
IG_likesmart004102.1e-0814631548
I-setpfam076793.8e-1515561647
IGsmart004099.8e-1015621648
IG_likesmart004109.8e-1015621648
I-setpfam076791.9e-1117031794
I-setpfam076791.3e-2318411929
IGsmart004095.4e-1618471930
IG_likesmart004105.4e-1618471930
I-setpfam076791.6e-1820782168
IGsmart004091.3e-1120842169
IG_likesmart004101.3e-1120842169
I-setpfam076796.8e-0821742262
IGsmart004096.9e-0521802263
IG_likesmart004106.9e-0521802263
I-setpfam076795.7e-0722672351
IGsmart004097.5e-0522732352
IG_likesmart004107.5e-0522732352
I-setpfam076796.9e-0623562442
IGsmart004090.0002923622443
IG_likesmart004100.0002923622443
I-setpfam076793.8e-1124452530
IGsmart004091.1e-0624512531
IG_likesmart004101.1e-0624512531
I-setpfam076793.1e-0625332617
I-setpfam076791.6e-0526202704
I-setpfam076793.5e-0627072792
I-setpfam076795.5e-1327952879
IGsmart004091.1e-0528012880
IG_likesmart004101.1e-0528012880
I-setpfam076795.3e-1028822966
IGsmart004091.8e-0728882969
IG_likesmart004101.8e-0728882969
I-setpfam076794.7e-0729683053
IGsmart004091.8e-0729753054
IG_likesmart004101.8e-0729753054
I-setpfam076791e-1430583142
IGsmart004092e-0730643150
IG_likesmart004102e-0730643150
I-setpfam076790.0001331473233
IGsmart004090.0001831533234
IG_likesmart004100.0001831533234
I-setpfam076794e-2832393328
IGsmart004093.3e-1432453329
IG_likesmart004103.3e-1432453329
I-setpfam076791.4e-3333453433
IGsmart004092.6e-1433513434
IG_likesmart004102.6e-1433513434
V-setpfam076860.0009233533433
IGc2smart004080.000133583423
I-setpfam076791e-2135043597
IGsmart004094e-1435103598
IG_likesmart004104e-1435103598
IGc2smart004081.3e-0935173587
I-setpfam076794.1e-1639444033
IGsmart004092.5e-1239504034
IG_likesmart004102.5e-1239504034
I-setpfam076793.6e-2741584248
IGsmart004094.6e-1741654249
IG_likesmart004104.6e-1741654249
IGc2smart004084.2e-1141724238
I-setpfam076795.7e-1951835272
IGsmart004097.1e-1051895273
IG_likesmart004107.1e-1051895273
IGc2smart004083.5e-0651965262
I-setpfam076794.8e-1953805470
IGsmart004093.1e-0553865471
IG_likesmart004103.1e-0553865471
IGc2smart004081.9e-1153935460
I-setpfam076791.3e-2155145603
IGsmart004097.2e-1855205604
IG_likesmart004107.2e-1855205604
IGc2smart004081.7e-1255275593

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs72647875 Polymorphismp.ARG1416CYSN/A
dbSNPrs16866538 Polymorphismp.ARG328CYSN/A
dbSNPrs12476289 Polymorphismp.ARG1572GLNN/A
dbSNPrs72648907 Polymorphismp.ARG4915HISN/A
dbSNPrs66677602 Polymorphismp.ARG5139METN/A
dbSNPrs922984 Polymorphismp.ASP3747GLYN/A
dbSNPrs35683768 Polymorphismp.ASP60TYRN/A
dbSNPrs4894048 Polymorphismp.GLY2392SERN/A
dbSNPrs75785339 Polymorphismp.HIS4660GLNN/A
dbSNPrs16866531 Polymorphismp.ILE1393VALN/A
dbSNPrs922985 Polymorphismp.LEU3732PHEN/A
dbSNPrs4893853 Polymorphismp.LYS3154ARGN/A
dbSNPrs10497520 Polymorphismp.LYS1201GLUN/A
dbSNPrs78457662 Polymorphismp.LYS4493THRN/A
dbSNPrs56142888 Polymorphismp.MET2610ILEN/A
dbSNPrs77419653 Polymorphismp.MET4621ILEN/A
dbSNPrs72647843 Polymorphismp.SER181ASNN/A
dbSNPrs2306636 Polymorphismp.SER2831ASNN/A
dbSNPrs2291310 Polymorphismp.SER3419ASNN/A
dbSNPrs1552280 Polymorphismp.SER1295LEUN/A
dbSNPrs35813871 Polymorphismp.THR811ILEN/A
dbSNPrs72648903 Polymorphismp.VAL4389ILEN/A
dbSNPrs2291311 Polymorphismp.VAL3261METN/A
dbSNPrs72647846 Polymorphismp.VAL335METN/A
dbSNPrs72648915 Polymorphismp.VAL5478METN/A
OMIM188840.0007 Diseasep.ALA743VALCARDIOMYOPATHY, DILATED, 1G
OMIM188840.0001 Diseasep.ARG740LEUCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
OMIM188840.0011 Diseasep.ARG279TRPHEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE
OMIM188840.0003 Diseasep.TRP930ARGCARDIOMYOPATHY, DILATED, 1G
OMIM188840.0008 Diseasep.VAL54METCARDIOMYOPATHY, DILATED, 1G



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