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Results for the Protein: NP_037359
256017257
176

aggrecan core protein isoform 2 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS
  SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE
2
32
2
32
0
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:

IG - smart00409
IG_like - smart00410
V-set - pfam07686
Ig_CSPGs_LP - cd05714
Ig_Neurocan - cd05902
Ig_Versican - cd05901
Ig_LP_like - cd05877
Ig_Aggrecan_like - cd05878
Ig_Aggrecan - cd05900
IGv - smart00406
Ig - cd00096
LINK - smart00445
Xlink - pfam00193
Link_domain_CSPGs_mo - cd03520
Link_domain_CSPGs_mo - cd03517
Link_domain_HAPLN_mo - cd03519
Link_domain_HAPLN_mo - cd03518
Link_domain_TSG_6_li - cd03515
Link_Domain - cd01102
Link_domain_CD44_lik - cd03516
Fibrinogen_BP - pfam08017
EGF_CA - cd00054
EGF - cd00053
EGF - smart00181
EGF - pfam00008
CLECT_chondrolectin_ - cd03595
CLECT_NK_receptors_l - cd03593
CLECT_REG-1_like - cd03594
CLECT_tetranectin_li - cd03596
CLECT_DC-SIGN_like - cd03590
CLECT_CEL-1_like - cd03589
CLECT - smart00034
CLECT_CSPGs - cd03588
CLECT_collectin_like - cd03591
CLECT_TC14_like - cd03601
CLECT_thrombomodulin - cd03600
CLECT_EMBP_like - cd03598
CLECT_VCBS - cd03603
CLECT_1 - cd03602
CLECT - cd00037
CLECT_selectins_like - cd03592
Lectin_C - pfam00059
CCP - smart00032
Sushi - pfam00084
CCP - cd00033


RefSeq Protein: NP_037359
   Default View:



















Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ig_LP_likecd058771e-0943154
Ig_Aggrecan_likecd058781.2e-7543154
Ig_Aggrecancd059005.3e-9643154
Ig_Versicancd059013.3e-2443154
Ig_Neurocancd059021.2e-2443154
Igcd000961.7e-1147147
Link_Domaincd011025.4e-43153247
Link_domain_CSPGs_mocd035174.8e-71153247
Link_domain_HAPLN_mocd035196.3e-13153247
Link_domain_CSPGs_mocd035203.1e-16153247
Link_domain_HAPLN_mocd035185.5e-36153247
Link_domain_TSG_6_licd035155.5e-14153247
Link_Domaincd011023.6e-59254349
Link_domain_HAPLN_mocd035193.1e-28254349
Link_domain_CSPGs_mocd035201.2e-77254349
Link_domain_TSG_6_licd035155.5e-17254349
Link_domain_CSPGs_mocd035171.9e-10255349
Link_domain_HAPLN_mocd035186.9e-21255349
Link_domain_CD44_likcd035167.7e-05474613
Link_domain_HAPLN_mocd035194.1e-19477572
Link_Domaincd011028.6e-41478572
Link_domain_CSPGs_mocd035178.6e-60478572
Link_domain_CSPGs_mocd035205.6e-19478572
Link_domain_HAPLN_mocd035186.5e-37478572
Link_domain_TSG_6_licd035156.9e-17478572
Link_Domaincd011026.5e-43579674
Link_domain_HAPLN_mocd035194e-30579674
Link_domain_CSPGs_mocd035201.4e-74579674
Link_domain_TSG_6_licd035153.3e-08579674
Link_domain_CSPGs_mocd035178.1e-12580656
Link_domain_HAPLN_mocd035184e-27580674
EGF_CAcd000545.4e-0522792314
EGFcd000533.6e-0722822314
CLECT_chondrolectin_cd035957.4e-0623172442
CLECT_CSPGscd035888.1e-11323202443
CLECT_CEL-1_likecd035891.3e-3123202442
CLECT_DC-SIGN_likecd035905.7e-3323202442
CLECT_NK_receptors_lcd035938.6e-1223202442
CLECT_REG-1_likecd035943.3e-1723202442
CLECT_tetranectin_licd035961.5e-0623202442
CLECT_collectin_likecd035918.2e-1023252442
CLECT_TC14_likecd036018.7e-0623272442
CLECT_thrombomodulincd036005.8e-0523282444
CLECT_EMBP_likecd035982.6e-0723292442
CLECTcd000371.2e-4023302442
CLECT_1cd036027.4e-0823302442
CLECT_VCBScd036031.8e-1323302442
CLECT_selectins_likecd035921.1e-0923342442
CCPcd000335.7e-1524472504
Xlinkpfam001935.9e-66153247
Xlinkpfam001931.7e-67254349
Xlinkpfam001931.9e-64478572
Xlinkpfam001932.3e-63579674
EGFpfam000081.1e-0622832312
Lectin_Cpfam000591.8e-2923372442
Sushipfam000842.9e-1224472503
IG_likesmart004103.3e-1536149
IGsmart004093.3e-1536149
V-setpfam076862e-0638148
IGvsmart004067e-0546135
LINKsmart004451.1e-59151248
LINKsmart004452e-64252350
LINKsmart004451.1e-51476573
LINKsmart004451.6e-62577675
Fibrinogen_BPpfam080170.0001710871560
EGFsmart001811.4e-0522822314
CLECTsmart000346.8e-4123202441
CCPsmart000322.9e-1324472503

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs202059356 Polymorphismp.ALA1213THRN/A
dbSNPrs201500718 Polymorphismp.ALA1251THRN/A
dbSNPrs200089865 Polymorphismp.ALA1270THRN/A
dbSNPrs201371548 Polymorphismp.ALA1289THRN/A
dbSNPrs201970173 Polymorphismp.ALA1308THRN/A
dbSNPrs200026339 Polymorphismp.ALA1327THRN/A
dbSNPrs202231802 Polymorphismp.ALA1346THRN/A
dbSNPrs200156631 Polymorphismp.ALA1365THRN/A
dbSNPrs61465251 Polymorphismp.ALA1384THRN/A
dbSNPrs34949187 Polymorphismp.ARG275GLNN/A
dbSNPrs77572130 Polymorphismp.ARG668GLNN/A
dbSNPrs34616796 Polymorphismp.ARG617HISN/A
dbSNPrs61736998 Polymorphismp.ASP1238ALAN/A
dbSNPrs16942318 Polymorphismp.ASP102GLUN/A
dbSNPrs201114885 Polymorphismp.ASP1333GLUN/A
dbSNPrs3817428 Polymorphismp.ASP2373GLUN/A
dbSNPrs1126823 Polymorphismp.GLN2500ARGN/A
dbSNPrs2882676 Polymorphismp.GLU1508ALAN/A
dbSNPrs34546634 Polymorphismp.GLY2000SERN/A
dbSNPrs34124958 Polymorphismp.GLY1849VALN/A
dbSNPrs4932439 Polymorphismp.ILE1765VALN/A
dbSNPrs1042630 Polymorphismp.ILE2079VALN/A
dbSNPrs74505897 Polymorphismp.LEU1855PHEN/A
dbSNPrs74477529 Polymorphismp.MET1974THRN/A
dbSNPrs35061438 Polymorphismp.PRO2058LEUN/A
dbSNPrs3743398 Polymorphismp.PRO864LEUN/A
dbSNPrs35430524 Polymorphismp.PRO913THRN/A
dbSNPrs34153007 Polymorphismp.SER2120ARGN/A
dbSNPrs938608 Polymorphismp.SER930ILEN/A
dbSNPrs938609 Polymorphismp.SER939THRN/A
dbSNPrs34570487 Polymorphismp.THR1004ALAN/A
dbSNPrs28407189 Polymorphismp.THR1622ALAN/A
OMIM155760.0002 Diseasep.ASP2267ASNSPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE
OMIM155760.0003 Diseasep.VAL2303METOSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS



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