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Results for the Protein: P12109
125987811

CO6A1_HUMAN RecName: Full=Collagen alpha-1(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 DOMINANT
  ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE
  ULLRICH CONGENITAL MUSCULAR DYSTROPHY, DIGENIC, COL6A1/COL6A2
19
7
7
4
15
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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



Default View:

vWA_collagen_alpha_1 - cd01480
VWA - smart00327
vWFA - cd00198
vWA_collagen - cd01472
vWFA_subfamily_ECM - cd01450
VWA - pfam00092
Collagen - pfam01391
vWA_Matrilin - cd01475
vWA_collagen_alpha3- - cd01481
vWA_integrins_alpha_ - cd01469
vWA_micronemal_prote - cd01471
VWA_integrin_inverte - cd01476
vWA_collagen_alphaI- - cd01482
vWA_complement_facto - cd01470


Swiss-Prot Protein: P12109
Identical to: NP_001839
   Default View:














Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
vWA_collagen_alpha_1cd014802.3e-10234227
vWFAcd001985.8e-1136209
vWFA_subfamily_ECMcd014508.1e-3736214
vWA_collagencd014721.1e-6836216
vWA_Matrilincd014755.3e-08612861
vWA_collagen_alpha_1cd014803.3e-103612807
vWFAcd001982.6e-26614787
vWFA_subfamily_ECMcd014502.8e-34614792
vWA_integrins_alpha_cd014692.1e-05614799
vWA_collagencd014722e-66614796
vWA_micronemal_protecd014719.1e-06614786
VWA_integrin_invertecd014764.3e-07614773
vWA_collagen_alpha3-cd014811.5e-06614762
vWA_collagen_alphaI-cd014822.9e-08615777
vWA_collagen_alpha_1cd014801.6e-908261011
vWFAcd001981.2e-228281004
vWFA_subfamily_ECMcd014503.2e-37828997
vWA_complement_factocd014700.000998281018
vWA_collagencd014729.1e-598281001
VWA_integrin_invertecd014761.4e-05828989
VWApfam000921e-2537228
Collagenpfam013912.5e-12257316
Collagenpfam013914.9e-14332391
Collagenpfam013911.2e-11395454
Collagenpfam013912.1e-12458517
Collagenpfam013911.8e-09523592
VWApfam000929.1e-33615797
VWApfam000923.8e-358291013
VWAsmart003274.1e-3835232
VWAsmart003275e-33613809
VWAsmart003278.1e-318271011

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_048763Polymorphismp.ARG439GLNN/A
dbSNPrs1053312 Polymorphismp.ARG850HISN/A
Swiss-ProtVAR_058216Diseasep.GLY275ARGBethlem myopathy (BM)
Swiss-ProtVAR_058217Diseasep.GLY281ARGUllrich congenital muscular dystrophy (UCMD)
Swiss-ProtVAR_058218Diseasep.GLY284ARGUllrich congenital muscular dystrophy (UCMD)
Swiss-ProtVAR_058219Diseasep.GLY290ARGUllrich congenital muscular dystrophy (UCMD)
Swiss-ProtVAR_058214Diseasep.GLY272ASPBethlem myopathy (BM)
Swiss-ProtVAR_013582Diseasep.GLY341ASPBethlem myopathy (BM)
Swiss-ProtVAR_058220Polymorphismp.GLY332SERN/A
Swiss-ProtVAR_013581Diseasep.GLY305VALBethlem myopathy (BM)
Swiss-ProtVAR_058221Diseasep.GLY341VALBethlem myopathy (BM)
Swiss-ProtVAR_013580Diseasep.LYS121ARGBethlem myopathy (BM)
dbSNPrs11553518 Polymorphismp.LYS814ARGN/A
Swiss-ProtVAR_058222Diseasep.LYS571THRBethlem myopathy (BM)
Swiss-ProtVAR_058215Diseasep.PRO274LEUBethlem myopathy (BM)
dbSNPrs11553519 Polymorphismp.SER116ASNN/A
Swiss-ProtVAR_058213Diseasep.SER116ASNBethlem myopathy (BM)
dbSNPrs13051496 Polymorphismp.SER890LEUN/A
Swiss-ProtVAR_058223Polymorphismp.THR881METN/A
OMIM120220.0014 Diseasep.GLY281ARGULLRICH CONGENITAL MUSCULAR DYSTROPHY, DIGENIC, COL6A1/COL6A2
OMIM120220.0012 Diseasep.GLY284ARGULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
OMIM120220.0013 Diseasep.GLY290ARGULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
OMIM120220.0004 Diseasep.GLY341ASPBETHLEM MYOPATHY
OMIM120220.0001 Diseasep.GLY286VALBETHLEM MYOPATHY
OMIM120220.0005 Diseasep.LYS121ARGBETHLEM MYOPATHY
OMIM120220.0011 Diseasep.TYR659TERULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE



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