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Results for the Protein: P12111
311033499

CO6A3_HUMAN RecName: Full=Collagen alpha-3(VI) chain; Flags: Precursor

Known Diseases associated with this Protein:
  BETHLEM MYOPATHY
  BETHLEM MYOPATHY (BM)
  ULLRICH CONGENITAL MUSCULAR DYSTROPHY (UCMD)
  ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE
16
26
3
12
27
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

vWA_collagen_alpha_1 - cd01480
vWA_Matrilin - cd01475
VWA - smart00327
vWA_collagen_alpha3- - cd01481
vWA_collagen_alphaI- - cd01482
VWA_integrin_inverte - cd01476
vWA_complement_facto - cd01470
vWFA - cd00198
vWA_integrins_alpha_ - cd01469
vWFA_subfamily_ECM - cd01450
vWA_collagen - cd01472
VWA - pfam00092
vWA_micronemal_prote - cd01471
vWA_CTRP - cd01473
vWA_ATR - cd01474
Collagen - pfam01391
KU - smart00131
KU - cd00109
Kunitz_BPTI - pfam00014


Swiss-Prot Protein: P12111
Identical to: NP_004360
   Default View:















Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
vWA_Matrilincd014759.6e-2136251
vWA_collagen_alpha_1cd014803.5e-0736215
vWFAcd001983.4e-3038198
vWFA_subfamily_ECMcd014504e-6038199
vWA_integrins_alpha_cd014692.8e-1838209
vWA_collagencd014727.1e-8138203
VWA_integrin_invertecd014764.5e-1938198
vWA_complement_factocd014700.0005238211
vWA_collagen_alpha3-cd014814e-4738203
vWA_collagen_alphaI-cd014823.3e-8138203
vWFAcd001989.1e-26241400
vWFA_subfamily_ECMcd014508e-45241400
vWA_integrins_alpha_cd014698.7e-12241411
vWA_collagencd014721.4e-65241405
VWA_integrin_invertecd014765.2e-08241402
vWA_collagen_alpha3-cd014813.5e-82241405
vWA_collagen_alphaI-cd014822.6e-43241405
vWA_collagen_alpha_1cd014801.1e-06241421
vWA_Matrilincd014754.1e-11442638
vWFAcd001982.3e-21444603
vWFA_subfamily_ECMcd014501.4e-56444604
vWA_integrins_alpha_cd014699e-12444616
vWA_collagencd014728.7e-81444608
VWA_integrin_invertecd014762e-15444605
vWA_collagen_alpha3-cd014814.7e-113444608
vWA_collagen_alphaI-cd014822.1e-46445608
vWFAcd001981.8e-30638797
vWFA_subfamily_ECMcd014502.8e-60638798
vWA_integrins_alpha_cd014696e-13638808
vWA_collagencd014721.6e-81638802
VWA_integrin_invertecd014766.4e-11638800
vWA_collagen_alpha3-cd014819.1e-113638802
vWA_micronemal_protecd014711.9e-10639817
vWA_Matrilincd014751.9e-12639867
vWA_collagen_alphaI-cd014821.9e-46639802
vWA_collagen_alpha_1cd014808.3e-07639813
vWA_CTRPcd014730.00041639814
vWFAcd001986e-14836993
vWFA_subfamily_ECMcd014501.9e-40836994
vWA_collagencd014721.8e-51836999
VWA_integrin_invertecd014761.3e-06836996
vWA_collagen_alpha3-cd014817.5e-75836999
vWA_collagen_alphaI-cd014822e-15837999
vWA_Matrilincd014751.2e-1010261228
vWFAcd001982.1e-2110281186
vWFA_subfamily_ECMcd014505.4e-4810281187
vWA_integrins_alpha_cd014699.8e-1110281197
vWA_collagencd014721.8e-6210281191
VWA_integrin_invertecd014765.2e-1510281182
vWA_collagen_alpha3-cd014811.2e-8810281191
vWA_collagen_alphaI-cd014824e-3010291194
vWA_collagen_alpha_1cd014803.3e-0710291202
vWA_ATRcd014740.0001612301416
vWFAcd001986.3e-2612321389
vWFA_subfamily_ECMcd014502.6e-5412321390
vWA_integrins_alpha_cd014695e-1212321400
vWA_collagencd014721.4e-7712321394
VWA_integrin_invertecd014762.5e-0812321391
vWA_collagen_alpha3-cd014812.9e-10912321394
vWA_collagen_alphaI-cd014822.2e-3212331394
vWA_collagen_alpha_1cd014802.3e-0712331405
vWA_Matrilincd014757.6e-1314331670
vWFAcd001981.1e-2214351594
vWFA_subfamily_ECMcd014507.3e-5414351595
vWA_integrins_alpha_cd014693e-1314351605
vWA_collagencd014723.9e-8114351599
VWA_integrin_invertecd014761.4e-1914351596
vWA_collagen_alpha3-cd014813.5e-11414351599
vWA_collagen_alphaI-cd014822.7e-3914351599
vWFAcd001989.4e-1916381797
vWFA_subfamily_ECMcd014506.5e-3916381797
vWA_integrins_alpha_cd014693.2e-1116381808
vWA_collagencd014721.4e-4116381805
vWA_collagen_alpha3-cd014817.4e-3316381802
vWA_collagen_alphaI-cd014824.2e-3216381805
vWFAcd001980.000124012567
vWFA_subfamily_ECMcd014502.9e-2224012566
vWFAcd001980.0001826182795
vWFA_subfamily_ECMcd014501.5e-2826182808
KUcd001093.1e-2931103163
VWApfam000922.1e-6039213
VWApfam000926.1e-51242415
VWApfam000921.1e-53445620
VWApfam000923.9e-58639812
VWApfam000925e-438371009
VWApfam000925.1e-5310291201
VWApfam000924.7e-5412331404
VWApfam000928.6e-5714361609
VWApfam000921.3e-4516391812
Collagenpfam013912.2e-1220382097
Collagenpfam013917e-1321042163
Collagenpfam013919.2e-1121802239
Collagenpfam013915.6e-1022492313
Collagenpfam013915.2e-1323142373
VWApfam000923.2e-2124022581
VWApfam000925.4e-3126192810
Kunitz_BPTIpfam000143.4e-2831113163
VWAsmart003278.7e-4537211
VWAsmart003271.6e-36240416
VWAsmart003277.3e-43443618
VWAsmart003271.5e-49637813
VWAsmart003271.8e-358351011
VWAsmart003278.6e-4110271202
VWAsmart003272.9e-4412311409
VWAsmart003273.4e-4414341607
VWAsmart003273.9e-3716371810
VWAsmart003270.000218362025
VWAsmart003276.7e-2324002579
VWAsmart003272.4e-2026172809
KUsmart001312e-2731103162

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2270669 Polymorphismp.ALA3012PRON/A
dbSNPrs34934127 Polymorphismp.ALA596SERN/A
dbSNPrs77181645 Polymorphismp.ALA830SERN/A
dbSNPrs113155945 Polymorphismp.ALA807THRN/A
Swiss-ProtVAR_058264Diseasep.ALA2941VALBethlem myopathy (BM)
dbSNPrs11903206 Polymorphismp.ALA2941VALN/A
Swiss-ProtVAR_058249Diseasep.ARG1064GLNUllrich congenital muscular dystrophy (UCMD)
dbSNPrs80272723 Polymorphismp.ARG1395GLNN/A
Swiss-ProtVAR_058251Diseasep.ARG1395GLNUllrich congenital muscular dystrophy (UCMD)
Swiss-ProtVAR_058253Polymorphismp.ARG1576GLNN/A
Swiss-ProtVAR_058254Polymorphismp.ARG1632GLNN/A
dbSNPrs36092870 Polymorphismp.ARG659HISN/A
Swiss-ProtVAR_058245Polymorphismp.ARG677HISN/A
Swiss-ProtVAR_058252Diseasep.ASN1467ASPBethlem myopathy (BM)
dbSNPrs35848091 Polymorphismp.ASN2805SERN/A
Swiss-ProtVAR_047284Polymorphismp.ASN2805THRN/A
Swiss-ProtVAR_058255Diseasep.ASP1674ASNUllrich congenital muscular dystrophy (UCMD)
dbSNPrs36104025 Polymorphismp.ASP2831HISN/A
Swiss-ProtVAR_058243Polymorphismp.ASP491HISN/A
Swiss-ProtVAR_058262Polymorphismp.ASP2431VALN/A
Swiss-ProtVAR_058250Diseasep.GLU1386LYSBethlem myopathy (BM)
Swiss-ProtVAR_058263Polymorphismp.GLU2453LYSN/A
Swiss-ProtVAR_058260Diseasep.GLY2056ARGBethlem myopathy (BM)
Swiss-ProtVAR_058259Diseasep.GLY2047ASPBethlem myopathy (BM)
Swiss-ProtVAR_058261Diseasep.GLY2080ASPBethlem myopathy (BM)
Swiss-ProtVAR_001910Diseasep.GLY1679GLUBethlem myopathy (BM)
Swiss-ProtVAR_058257Diseasep.LEU1726ARGBethlem myopathy (BM)
Swiss-ProtVAR_058242Polymorphismp.LEU411VALN/A
dbSNPrs11896521 Polymorphismp.LYS1088GLNN/A
Swiss-ProtVAR_058248Diseasep.LYS1014GLUBethlem myopathy (BM)
dbSNPrs6728818 Polymorphismp.MET2927THRN/A
Swiss-ProtVAR_047286Polymorphismp.MET2988VALN/A
dbSNPrs36117715 Polymorphismp.PRO2218LEUN/A
Swiss-ProtVAR_058256Polymorphismp.PRO1687SERN/A
Swiss-ProtVAR_047288Polymorphismp.THR3069ILEN/A
Swiss-ProtVAR_047279Polymorphismp.THR538METN/A
Swiss-ProtVAR_058244Polymorphismp.THR492SERN/A
Swiss-ProtVAR_047281Polymorphismp.VAL886GLUN/A
Swiss-ProtVAR_058258Diseasep.VAL1985METBethlem myopathy (BM)
OMIM120250.0003 Diseasep.ARG465TERULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE
OMIM120250.0001 Diseasep.GLY1679GLUBETHLEM MYOPATHY
OMIM120250.0006 Diseasep.LEU1726ARGBETHLEM MYOPATHY



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