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Results for the Protein:
NP_476505
240255542
1293
COL6A3
NCBI
collagen alpha-3(VI) chain isoform 2 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.
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:
vWA_Matrilin - cd01475
VWA - smart00327
vWA_collagen_alpha3- - cd01481
vWA_collagen - cd01472
VWA_integrin_inverte - cd01476
vWFA - cd00198
vWFA_subfamily_ECM - cd01450
vWA_integrins_alpha_ - cd01469
vWA_collagen_alphaI- - cd01482
VWA - pfam00092
vWA_collagen_alpha_1 - cd01480
vWA_CTRP - cd01473
vWA_micronemal_prote - cd01471
vWA_ATR - cd01474
RefSeq Protein:
NP_476505
Default View:
Domains
found on the Protein
Domain ↕
CD Accession ↕
E-Value ↕
Start ↕
End ↕
vWFA
cd00198
2.3e-21
37
196
vWFA_subfamily_ECM
cd01450
1.4e-56
37
197
vWA_integrins_alpha_
cd01469
9e-12
37
209
vWA_collagen
cd01472
8.7e-81
37
201
VWA_integrin_inverte
cd01476
2e-15
37
198
vWA_collagen_alpha3-
cd01481
4.7e-113
37
201
vWA_collagen_alphaI-
cd01482
2.1e-46
38
201
vWFA
cd00198
1.8e-30
231
390
vWFA_subfamily_ECM
cd01450
2.8e-60
231
391
vWA_integrins_alpha_
cd01469
6e-13
231
401
vWA_collagen
cd01472
1.6e-81
231
395
VWA_integrin_inverte
cd01476
6.4e-11
231
393
vWA_collagen_alpha3-
cd01481
9.1e-113
231
395
vWA_micronemal_prote
cd01471
1.9e-10
232
410
vWA_CTRP
cd01473
0.00041
232
407
vWA_Matrilin
cd01475
1.9e-12
232
460
vWA_collagen_alpha_1
cd01480
8.3e-07
232
406
vWA_collagen_alphaI-
cd01482
1.9e-46
232
395
vWFA
cd00198
6e-14
429
586
vWFA_subfamily_ECM
cd01450
1.9e-40
429
587
vWA_collagen
cd01472
1.8e-51
429
592
VWA_integrin_inverte
cd01476
1.3e-06
429
589
vWA_collagen_alpha3-
cd01481
7.5e-75
429
592
vWA_collagen_alphaI-
cd01482
2e-15
430
592
vWA_Matrilin
cd01475
1.2e-10
619
821
vWFA
cd00198
2.1e-21
621
779
vWFA_subfamily_ECM
cd01450
5.4e-48
621
780
vWA_integrins_alpha_
cd01469
9.8e-11
621
790
vWA_collagen
cd01472
1.8e-62
621
784
VWA_integrin_inverte
cd01476
5.2e-15
621
775
vWA_collagen_alpha3-
cd01481
1.2e-88
621
784
vWA_collagen_alpha_1
cd01480
3.3e-07
622
795
vWA_collagen_alphaI-
cd01482
4e-30
622
787
vWA_ATR
cd01474
0.00016
823
1009
vWFA
cd00198
6.3e-26
825
982
vWFA_subfamily_ECM
cd01450
2.6e-54
825
983
vWA_integrins_alpha_
cd01469
5e-12
825
993
vWA_collagen
cd01472
1.4e-77
825
987
VWA_integrin_inverte
cd01476
2.5e-08
825
984
vWA_collagen_alpha3-
cd01481
2.9e-109
825
987
vWA_collagen_alpha_1
cd01480
2.3e-07
826
998
vWA_collagen_alphaI-
cd01482
2.2e-32
826
987
VWA
pfam00092
1.1e-53
38
213
VWA
pfam00092
3.9e-58
232
405
VWA
pfam00092
5e-43
430
602
VWA
pfam00092
5.1e-53
622
794
VWA
pfam00092
4.7e-54
826
997
VWA
smart00327
7.3e-43
36
211
VWA
smart00327
1.5e-49
230
406
VWA
smart00327
1.8e-35
428
604
VWA
smart00327
8.6e-41
620
795
VWA
smart00327
2.9e-44
824
1002
Table of Mutations found on the Protein
Source ↕
Mut_ID ↕
Class ↕
HGVS ↕
Disease ↕
dbSNP
rs34934127
Polymorphism
p.ALA189SER
N/A
dbSNP
rs77181645
Polymorphism
p.ALA423SER
N/A
dbSNP
rs113155945
Polymorphism
p.ALA400THR
N/A
dbSNP
rs80272723
Polymorphism
p.ARG988GLN
N/A
dbSNP
rs36092870
Polymorphism
p.ARG252HIS
N/A
dbSNP
rs11896521
Polymorphism
p.LYS681GLN
N/A
OMIM
120250.0003
Disease
p.ARG58TER
ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE
Please Cite:
Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.
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