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Results for the Protein:
Q9ULB1
17369704
9378
NRXN1
NCBI
,
UniProt
NRX1A_HUMAN RecName: Full=Neurexin-1; AltName: Full=Neurexin I-alpha; AltName: Full=Neurexin-1-alpha; Flags: Precursor
Known Diseases associated with this Protein:
PITT-HOPKINS-LIKE SYNDROME 2
1
2
1
0
2
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:
LamG - cd00110
LamG - smart00282
Laminin_G_1 - pfam00054
Laminin_G_2 - pfam02210
EGF_CA - cd00054
EGF - smart00181
EGF - cd00053
EGF_CA - smart00179
EGF - pfam00008
4.1m - smart00294
Swiss-Prot Protein:
Q9ULB1
Identical to:
NP_004792
Default View:
Domains
found on the Protein
Domain ↕
CD Accession ↕
E-Value ↕
Start ↕
End ↕
LamG
cd00110
4.1e-35
283
444
LamG
cd00110
2.3e-51
481
650
EGF_CA
cd00054
1e-07
676
713
EGF
cd00053
1.5e-08
679
713
LamG
cd00110
4.4e-15
718
875
LamG
cd00110
1.1e-38
906
1059
LamG
cd00110
1.2e-24
1125
1273
Laminin_G_1
pfam00054
3.1e-07
58
195
Laminin_G_2
pfam02210
2.3e-31
58
192
Laminin_G_1
pfam00054
1.2e-10
312
449
Laminin_G_2
pfam02210
3.1e-31
312
446
Laminin_G_1
pfam00054
3.2e-27
508
655
Laminin_G_2
pfam02210
8.1e-39
508
652
EGF
pfam00008
0.00033
680
711
Laminin_G_1
pfam00054
8.9e-05
746
880
Laminin_G_2
pfam02210
4.1e-29
746
877
Laminin_G_1
pfam00054
1.1e-17
933
1064
Laminin_G_2
pfam02210
5.3e-39
933
1061
EGF
pfam00008
2.9e-05
1087
1118
Laminin_G_1
pfam00054
0.00088
1156
1283
Laminin_G_2
pfam02210
2e-24
1156
1275
LamG
smart00282
3.5e-36
50
192
LamG
smart00282
1.6e-34
304
446
LamG
smart00282
7.1e-50
500
652
EGF
smart00181
3.5e-07
679
713
EGF_CA
smart00179
0.00047
680
713
LamG
smart00282
3.5e-32
738
877
LamG
smart00282
3.7e-36
925
1061
LamG
smart00282
3.3e-20
1148
1275
4.1m
smart00294
6.9e-08
1422
1440
Table of Mutations found on the Protein
Source ↕
Mut_ID ↕
Class ↕
HGVS ↕
Disease ↕
Swiss-Prot
VAR_070274
Polymorphism
p.GLY28ALA
N/A
Swiss-Prot
VAR_050265
Polymorphism
p.TYR400ASN
N/A
OMIM
600565.0002
Disease
p.SER939TER
PITT-HOPKINS-LIKE SYNDROME 2
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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