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Results for the Protein:
Q05707
125987815
7373
COL14A1
NCBI
,
UniProt
COEA1_HUMAN RecName: Full=Collagen alpha-1(XIV) chain; AltName: Full=Undulin; Flags: Precursor
Known Diseases associated with this Protein:
VARIANT OF UNKNOWN SIGNIFICANCE
1
6
1
3
3
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:
FN3 - cd00063
FN3 - smart00060
fn3 - pfam00041
vWA_Matrilin - cd01475
VWA - smart00327
vWA_collagen_alpha_1 - cd01480
vWA_collagen - cd01472
vWA_collagen_alpha3- - cd01481
vWA_collagen_alphaI- - cd01482
vWA_integrins_alpha_ - cd01469
vWFA_subfamily_ECM - cd01450
vWFA - cd00198
VWA_integrin_inverte - cd01476
vWA_complement_facto - cd01470
vWA_micronemal_prote - cd01471
VWA - pfam00092
vWA_CTRP - cd01473
vWA_ATR - cd01474
TSPN - smart00210
Collagen - pfam01391
Swiss-Prot Protein:
Q05707
Identical to:
NP_066933
Default View:
Domains
found on the Protein
Domain ↕
CD Accession ↕
E-Value ↕
Start ↕
End ↕
vWA_Matrilin
cd01475
5.2e-46
155
376
vWFA
cd00198
5e-38
157
315
vWFA_subfamily_ECM
cd01450
2e-65
157
316
vWA_integrins_alpha_
cd01469
1.2e-28
157
326
vWA_complement_facto
cd01470
0.00025
157
328
vWA_micronemal_prote
cd01471
1.2e-10
157
331
VWA_integrin_inverte
cd01476
1.6e-20
157
315
vWA_collagen_alpha3-
cd01481
2.4e-56
157
320
vWA_collagen_alpha_1
cd01480
3.1e-09
157
332
vWA_collagen_alphaI-
cd01482
9e-104
157
320
vWA_collagen
cd01472
5.2e-85
157
320
vWA_CTRP
cd01473
7.9e-06
158
336
FN3
cd00063
2.8e-13
353
440
FN3
cd00063
4.4e-12
444
532
FN3
cd00063
2.8e-21
535
621
FN3
cd00063
7.3e-08
624
712
FN3
cd00063
5.6e-11
735
826
FN3
cd00063
3e-15
828
917
vWA_ATR
cd01474
2.5e-07
1026
1213
vWA_Matrilin
cd01475
4.5e-36
1029
1257
vWFA
cd00198
1.3e-31
1031
1191
vWFA_subfamily_ECM
cd01450
7.4e-64
1031
1190
vWA_integrins_alpha_
cd01469
7.5e-34
1031
1201
vWA_micronemal_prote
cd01471
1.1e-09
1031
1180
VWA_integrin_inverte
cd01476
1.7e-22
1031
1192
vWA_collagen_alpha3-
cd01481
1.5e-42
1031
1195
vWA_collagen_alpha_1
cd01480
2e-07
1031
1197
vWA_collagen_alphaI-
cd01482
5e-114
1031
1195
vWA_collagen
cd01472
4.8e-86
1031
1195
fn3
pfam00041
2.6e-15
31
108
VWA
pfam00092
1.9e-68
158
330
fn3
pfam00041
4e-15
354
436
fn3
pfam00041
2.5e-07
444
523
fn3
pfam00041
5.5e-18
536
615
fn3
pfam00041
3.9e-09
625
703
fn3
pfam00041
6e-10
736
819
fn3
pfam00041
4.5e-15
830
908
fn3
pfam00041
0.00011
920
998
VWA
pfam00092
3.1e-64
1032
1205
Collagen
pfam01391
8.2e-11
1462
1526
Collagen
pfam01391
2.1e-12
1545
1604
Collagen
pfam01391
3.5e-10
1653
1701
Collagen
pfam01391
2.2e-09
1702
1759
FN3
smart00060
2.7e-12
30
108
VWA
smart00327
3.2e-55
156
328
FN3
smart00060
3.4e-11
353
433
FN3
smart00060
2.9e-10
443
523
FN3
smart00060
7.4e-16
535
612
FN3
smart00060
1.1e-11
624
703
FN3
smart00060
3.3e-09
735
817
FN3
smart00060
1.3e-10
829
908
VWA
smart00327
2.8e-55
1030
1206
TSPN
smart00210
3.1e-75
1229
1424
Table of Mutations found on the Protein
Source ↕
Mut_ID ↕
Class ↕
HGVS ↕
Disease ↕
dbSNP
rs4870723
Polymorphism
p.ASN563HIS
N/A
Swiss-Prot
VAR_048773
Polymorphism
p.PRO855LEU
N/A
Swiss-Prot
VAR_061113
Polymorphism
p.THR636ALA
N/A
Swiss-Prot
VAR_048774
Polymorphism
p.VAL922ILE
N/A
dbSNP
rs17833992
Polymorphism
p.VAL1342LEU
N/A
dbSNP
rs61729463
Polymorphism
p.VAL150LEU
N/A
OMIM
120324.0001
Disease
p.PRO1502LEU
VARIANT OF UNKNOWN SIGNIFICANCE
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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