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Results for the Protein: NP_476506
240255540

collagen alpha-3(VI) chain isoform 3 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE
1
6
1
6
0
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

VWA - smart00327
vWA_collagen_alphaI- - cd01482
vWFA - cd00198
vWA_collagen_alpha_1 - cd01480
vWA_collagen_alpha3- - cd01481
vWFA_subfamily_ECM - cd01450
vWA_collagen - cd01472
VWA_integrin_inverte - cd01476
vWA_integrins_alpha_ - cd01469
VWA - pfam00092
vWA_Matrilin - cd01475
vWA_micronemal_prote - cd01471
vWA_CTRP - cd01473
vWA_ATR - cd01474


RefSeq Protein: NP_476506
   Default View:















Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
vWFA_subfamily_ECMcd014508e-4535194
vWA_integrins_alpha_cd014698.7e-1235205
VWA_integrin_invertecd014765.2e-0835196
vWA_collagencd014721.4e-6535199
vWA_collagen_alpha_1cd014801.1e-0635215
vWA_collagen_alpha3-cd014813.5e-8235199
vWA_collagen_alphaI-cd014822.6e-4335199
vWA_Matrilincd014754.1e-11236432
vWFAcd001982.3e-21238397
vWFA_subfamily_ECMcd014501.4e-56238398
vWA_integrins_alpha_cd014699e-12238410
VWA_integrin_invertecd014762e-15238399
vWA_collagencd014728.7e-81238402
vWA_collagen_alpha3-cd014814.7e-113238402
vWA_collagen_alphaI-cd014822.1e-46239402
vWFAcd001981.8e-30432591
vWFA_subfamily_ECMcd014502.8e-60432592
vWA_integrins_alpha_cd014696e-13432602
VWA_integrin_invertecd014766.4e-11432594
vWA_collagencd014721.6e-81432596
vWA_collagen_alpha3-cd014819.1e-113432596
vWA_micronemal_protecd014711.9e-10433611
vWA_CTRPcd014730.00041433608
vWA_Matrilincd014751.9e-12433661
vWA_collagen_alpha_1cd014808.3e-07433607
vWA_collagen_alphaI-cd014821.9e-46433596
vWFAcd001986e-14630787
vWFA_subfamily_ECMcd014501.9e-40630788
VWA_integrin_invertecd014761.3e-06630790
vWA_collagencd014721.8e-51630793
vWA_collagen_alpha3-cd014817.5e-75630793
vWA_collagen_alphaI-cd014822e-15631793
vWA_Matrilincd014751.2e-108201022
vWFAcd001982.1e-21822980
vWFA_subfamily_ECMcd014505.4e-48822981
vWA_integrins_alpha_cd014699.8e-11822991
VWA_integrin_invertecd014765.2e-15822976
vWA_collagencd014721.8e-62822985
vWA_collagen_alpha3-cd014811.2e-88822985
vWA_collagen_alpha_1cd014803.3e-07823996
vWA_collagen_alphaI-cd014824e-30823988
vWA_ATRcd014740.0001610241210
vWFAcd001986.3e-2610261183
vWFA_subfamily_ECMcd014502.6e-5410261184
vWA_integrins_alpha_cd014695e-1210261194
VWA_integrin_invertecd014762.5e-0810261185
vWA_collagencd014721.4e-7710261188
vWA_collagen_alpha3-cd014812.9e-10910261188
vWA_collagen_alpha_1cd014802.3e-0710271199
vWA_collagen_alphaI-cd014822.2e-3210271188
VWApfam000926.1e-5136209
VWApfam000921.1e-53239414
VWApfam000923.9e-58433606
VWApfam000925e-43631803
VWApfam000925.1e-53823995
VWApfam000924.7e-5410271198
VWAsmart003271.6e-3634210
VWAsmart003277.3e-43237412
VWAsmart003271.5e-49431607
VWAsmart003271.8e-35629805
VWAsmart003278.6e-41821996
VWAsmart003272.9e-4410251203

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs34934127 Polymorphismp.ALA390SERN/A
dbSNPrs77181645 Polymorphismp.ALA624SERN/A
dbSNPrs113155945 Polymorphismp.ALA601THRN/A
dbSNPrs80272723 Polymorphismp.ARG1189GLNN/A
dbSNPrs36092870 Polymorphismp.ARG453HISN/A
dbSNPrs11896521 Polymorphismp.LYS882GLNN/A
OMIM120250.0003 Diseasep.ARG259TERULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE



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