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Results for the Protein:
P12111
311033499
1293
COL6A3
NCBI
,
UniProt
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.
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_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_collagen_alpha_1
cd01480
3.5e-07
36
215
vWFA
cd00198
3.4e-30
38
198
vWFA_subfamily_ECM
cd01450
4e-60
38
199
vWA_integrins_alpha_
cd01469
2.8e-18
38
209
vWA_collagen
cd01472
7.1e-81
38
203
VWA_integrin_inverte
cd01476
4.5e-19
38
198
vWA_complement_facto
cd01470
0.00052
38
211
vWA_collagen_alpha3-
cd01481
4e-47
38
203
vWA_collagen_alphaI-
cd01482
3.3e-81
38
203
vWFA
cd00198
9.1e-26
241
400
vWFA_subfamily_ECM
cd01450
8e-45
241
400
vWA_integrins_alpha_
cd01469
8.7e-12
241
411
vWA_collagen
cd01472
1.4e-65
241
405
VWA_integrin_inverte
cd01476
5.2e-08
241
402
vWA_collagen_alpha3-
cd01481
3.5e-82
241
405
vWA_collagen_alphaI-
cd01482
2.6e-43
241
405
vWA_collagen_alpha_1
cd01480
1.1e-06
241
421
vWA_Matrilin
cd01475
4.1e-11
442
638
vWFA
cd00198
2.3e-21
444
603
vWFA_subfamily_ECM
cd01450
1.4e-56
444
604
vWA_integrins_alpha_
cd01469
9e-12
444
616
vWA_collagen
cd01472
8.7e-81
444
608
VWA_integrin_inverte
cd01476
2e-15
444
605
vWA_collagen_alpha3-
cd01481
4.7e-113
444
608
vWA_collagen_alphaI-
cd01482
2.1e-46
445
608
vWFA
cd00198
1.8e-30
638
797
vWFA_subfamily_ECM
cd01450
2.8e-60
638
798
vWA_integrins_alpha_
cd01469
6e-13
638
808
vWA_collagen
cd01472
1.6e-81
638
802
VWA_integrin_inverte
cd01476
6.4e-11
638
800
vWA_collagen_alpha3-
cd01481
9.1e-113
638
802
vWA_micronemal_prote
cd01471
1.9e-10
639
817
vWA_Matrilin
cd01475
1.9e-12
639
867
vWA_collagen_alphaI-
cd01482
1.9e-46
639
802
vWA_collagen_alpha_1
cd01480
8.3e-07
639
813
vWA_CTRP
cd01473
0.00041
639
814
vWFA
cd00198
6e-14
836
993
vWFA_subfamily_ECM
cd01450
1.9e-40
836
994
vWA_collagen
cd01472
1.8e-51
836
999
VWA_integrin_inverte
cd01476
1.3e-06
836
996
vWA_collagen_alpha3-
cd01481
7.5e-75
836
999
vWA_collagen_alphaI-
cd01482
2e-15
837
999
vWA_Matrilin
cd01475
1.2e-10
1026
1228
vWFA
cd00198
2.1e-21
1028
1186
vWFA_subfamily_ECM
cd01450
5.4e-48
1028
1187
vWA_integrins_alpha_
cd01469
9.8e-11
1028
1197
vWA_collagen
cd01472
1.8e-62
1028
1191
VWA_integrin_inverte
cd01476
5.2e-15
1028
1182
vWA_collagen_alpha3-
cd01481
1.2e-88
1028
1191
vWA_collagen_alphaI-
cd01482
4e-30
1029
1194
vWA_collagen_alpha_1
cd01480
3.3e-07
1029
1202
vWA_ATR
cd01474
0.00016
1230
1416
vWFA
cd00198
6.3e-26
1232
1389
vWFA_subfamily_ECM
cd01450
2.6e-54
1232
1390
vWA_integrins_alpha_
cd01469
5e-12
1232
1400
vWA_collagen
cd01472
1.4e-77
1232
1394
VWA_integrin_inverte
cd01476
2.5e-08
1232
1391
vWA_collagen_alpha3-
cd01481
2.9e-109
1232
1394
vWA_collagen_alphaI-
cd01482
2.2e-32
1233
1394
vWA_collagen_alpha_1
cd01480
2.3e-07
1233
1405
vWA_Matrilin
cd01475
7.6e-13
1433
1670
vWFA
cd00198
1.1e-22
1435
1594
vWFA_subfamily_ECM
cd01450
7.3e-54
1435
1595
vWA_integrins_alpha_
cd01469
3e-13
1435
1605
vWA_collagen
cd01472
3.9e-81
1435
1599
VWA_integrin_inverte
cd01476
1.4e-19
1435
1596
vWA_collagen_alpha3-
cd01481
3.5e-114
1435
1599
vWA_collagen_alphaI-
cd01482
2.7e-39
1435
1599
vWFA
cd00198
9.4e-19
1638
1797
vWFA_subfamily_ECM
cd01450
6.5e-39
1638
1797
vWA_integrins_alpha_
cd01469
3.2e-11
1638
1808
vWA_collagen
cd01472
1.4e-41
1638
1805
vWA_collagen_alpha3-
cd01481
7.4e-33
1638
1802
vWA_collagen_alphaI-
cd01482
4.2e-32
1638
1805
vWFA
cd00198
0.0001
2401
2567
vWFA_subfamily_ECM
cd01450
2.9e-22
2401
2566
vWFA
cd00198
0.00018
2618
2795
vWFA_subfamily_ECM
cd01450
1.5e-28
2618
2808
KU
cd00109
3.1e-29
3110
3163
VWA
pfam00092
2.1e-60
39
213
VWA
pfam00092
6.1e-51
242
415
VWA
pfam00092
1.1e-53
445
620
VWA
pfam00092
3.9e-58
639
812
VWA
pfam00092
5e-43
837
1009
VWA
pfam00092
5.1e-53
1029
1201
VWA
pfam00092
4.7e-54
1233
1404
VWA
pfam00092
8.6e-57
1436
1609
VWA
pfam00092
1.3e-45
1639
1812
Collagen
pfam01391
2.2e-12
2038
2097
Collagen
pfam01391
7e-13
2104
2163
Collagen
pfam01391
9.2e-11
2180
2239
Collagen
pfam01391
5.6e-10
2249
2313
Collagen
pfam01391
5.2e-13
2314
2373
VWA
pfam00092
3.2e-21
2402
2581
VWA
pfam00092
5.4e-31
2619
2810
Kunitz_BPTI
pfam00014
3.4e-28
3111
3163
VWA
smart00327
8.7e-45
37
211
VWA
smart00327
1.6e-36
240
416
VWA
smart00327
7.3e-43
443
618
VWA
smart00327
1.5e-49
637
813
VWA
smart00327
1.8e-35
835
1011
VWA
smart00327
8.6e-41
1027
1202
VWA
smart00327
2.9e-44
1231
1409
VWA
smart00327
3.4e-44
1434
1607
VWA
smart00327
3.9e-37
1637
1810
VWA
smart00327
0.0002
1836
2025
VWA
smart00327
6.7e-23
2400
2579
VWA
smart00327
2.4e-20
2617
2809
KU
smart00131
2e-27
3110
3162
Table of Mutations found on the Protein
Source ↕
Mut_ID ↕
Class ↕
HGVS ↕
Disease ↕
dbSNP
rs2270669
Polymorphism
p.ALA3012PRO
N/A
dbSNP
rs34934127
Polymorphism
p.ALA596SER
N/A
dbSNP
rs77181645
Polymorphism
p.ALA830SER
N/A
dbSNP
rs113155945
Polymorphism
p.ALA807THR
N/A
Swiss-Prot
VAR_058264
Disease
p.ALA2941VAL
Bethlem myopathy (BM)
dbSNP
rs11903206
Polymorphism
p.ALA2941VAL
N/A
Swiss-Prot
VAR_058249
Disease
p.ARG1064GLN
Ullrich congenital muscular dystrophy (UCMD)
dbSNP
rs80272723
Polymorphism
p.ARG1395GLN
N/A
Swiss-Prot
VAR_058251
Disease
p.ARG1395GLN
Ullrich congenital muscular dystrophy (UCMD)
Swiss-Prot
VAR_058253
Polymorphism
p.ARG1576GLN
N/A
Swiss-Prot
VAR_058254
Polymorphism
p.ARG1632GLN
N/A
dbSNP
rs36092870
Polymorphism
p.ARG659HIS
N/A
Swiss-Prot
VAR_058245
Polymorphism
p.ARG677HIS
N/A
Swiss-Prot
VAR_058252
Disease
p.ASN1467ASP
Bethlem myopathy (BM)
dbSNP
rs35848091
Polymorphism
p.ASN2805SER
N/A
Swiss-Prot
VAR_047284
Polymorphism
p.ASN2805THR
N/A
Swiss-Prot
VAR_058255
Disease
p.ASP1674ASN
Ullrich congenital muscular dystrophy (UCMD)
dbSNP
rs36104025
Polymorphism
p.ASP2831HIS
N/A
Swiss-Prot
VAR_058243
Polymorphism
p.ASP491HIS
N/A
Swiss-Prot
VAR_058262
Polymorphism
p.ASP2431VAL
N/A
Swiss-Prot
VAR_058250
Disease
p.GLU1386LYS
Bethlem myopathy (BM)
Swiss-Prot
VAR_058263
Polymorphism
p.GLU2453LYS
N/A
Swiss-Prot
VAR_058260
Disease
p.GLY2056ARG
Bethlem myopathy (BM)
Swiss-Prot
VAR_058259
Disease
p.GLY2047ASP
Bethlem myopathy (BM)
Swiss-Prot
VAR_058261
Disease
p.GLY2080ASP
Bethlem myopathy (BM)
Swiss-Prot
VAR_001910
Disease
p.GLY1679GLU
Bethlem myopathy (BM)
Swiss-Prot
VAR_058257
Disease
p.LEU1726ARG
Bethlem myopathy (BM)
Swiss-Prot
VAR_058242
Polymorphism
p.LEU411VAL
N/A
dbSNP
rs11896521
Polymorphism
p.LYS1088GLN
N/A
Swiss-Prot
VAR_058248
Disease
p.LYS1014GLU
Bethlem myopathy (BM)
dbSNP
rs6728818
Polymorphism
p.MET2927THR
N/A
Swiss-Prot
VAR_047286
Polymorphism
p.MET2988VAL
N/A
dbSNP
rs36117715
Polymorphism
p.PRO2218LEU
N/A
Swiss-Prot
VAR_058256
Polymorphism
p.PRO1687SER
N/A
Swiss-Prot
VAR_047288
Polymorphism
p.THR3069ILE
N/A
Swiss-Prot
VAR_047279
Polymorphism
p.THR538MET
N/A
Swiss-Prot
VAR_058244
Polymorphism
p.THR492SER
N/A
Swiss-Prot
VAR_047281
Polymorphism
p.VAL886GLU
N/A
Swiss-Prot
VAR_058258
Disease
p.VAL1985MET
Bethlem myopathy (BM)
OMIM
120250.0003
Disease
p.ARG465TER
ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE
OMIM
120250.0001
Disease
p.GLY1679GLU
BETHLEM MYOPATHY
OMIM
120250.0006
Disease
p.LEU1726ARG
BETHLEM MYOPATHY
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.
DMDM_info@umbc.edu
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