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Results for the Protein:
NP_001013275
61742797
4059
BCAM
NCBI
basal cell adhesion molecule isoform 2 precursor [Homo sapiens]
Known Diseases associated with this Protein:
BLOOD GROUP--LUTHERAN NULL
3
4
3
4
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:
IG - smart00409
IG_like - smart00410
V-set - pfam07686
IgV - cd00099
C2-set_2 - pfam08205
Ig2_KIRREL3-like - cd05759
IGc2 - smart00408
ig - pfam00047
Ig2_FGFRL1-like - cd05856
Ig2_PTK7 - cd05760
Ig - cd00096
Ig4_L1-NrCAM_like - cd04978
RefSeq Protein:
NP_001013275
Default View:
Domains
found on the Protein
Domain ↕
CD Accession ↕
E-Value ↕
Start ↕
End ↕
Ig2_KIRREL3-like
cd05759
0.00083
171
258
Ig2_FGFRL1-like
cd05856
0.00089
369
433
Ig
cd00096
7.4e-06
380
441
Ig2_PTK7
cd05760
0.00062
380
447
Ig4_L1-NrCAM_like
cd04978
5.4e-05
466
535
Ig
cd00096
0.00011
469
536
ig
pfam00047
0.00051
284
339
ig
pfam00047
7.2e-05
377
426
IG
smart00409
4.7e-10
38
144
IG_like
smart00410
4.7e-10
38
144
V-set
pfam07686
4.7e-05
40
143
C2-set_2
pfam08205
6e-32
150
248
IG
smart00409
2.1e-10
276
359
IG_like
smart00410
2.1e-10
276
359
IGc2
smart00408
5.8e-07
283
344
IG
smart00409
0.0006
369
445
IG_like
smart00410
0.00055
369
445
IGc2
smart00408
1.4e-05
376
431
C2-set_2
pfam08205
0.00061
453
533
IG
smart00409
9.2e-05
458
541
IG_like
smart00410
9.2e-05
458
541
Table of Mutations found on the Protein
Source ↕
Mut_ID ↕
Class ↕
HGVS ↕
Disease ↕
dbSNP
rs28399653
Polymorphism
p.ARG77HIS
N/A
dbSNP
rs3810141
Polymorphism
p.CYS237TRP
N/A
dbSNP
rs1135062
Polymorphism
p.THR539ALA
N/A
dbSNP
rs28399626
Polymorphism
p.VAL381ILE
N/A
OMIM
612773.0006
Disease
p.ARG121TER
BLOOD GROUP--LUTHERAN NULL
OMIM
612773.0003
Disease
p.ARG231TER
BLOOD GROUP--LUTHERAN NULL
OMIM
612773.0005
Disease
p.CYS237TER
BLOOD GROUP--LUTHERAN NULL
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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