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Results for the Protein:
P24043
215274259
3908
LAMA2
NCBI
,
UniProt
LAMA2_HUMAN RecName: Full=Laminin subunit alpha-2; AltName: Full=Laminin M chain; AltName: Full=Laminin-12 subunit alpha; AltName: Full=Laminin-2 subunit alpha; AltName: Full=Laminin-4 subunit alpha; AltName: Full=Merosin heavy chain; Flags: Precursor
Known Diseases associated with this Protein:
MEROSIN-DEFICIENT CONGENITAL MUSCULAR DYSTROPHY 1A (MDC1A)
3
16
0
0
19
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:
LamNT - smart00136
Laminin_N - pfam00055
EGF_Lam - cd00055
EGF_Lam - smart00180
Laminin_EGF - pfam00053
LamB - smart00281
Laminin_B - pfam00052
Laminin_I - pfam06008
Laminin_II - pfam06009
LamG - cd00110
LamG - smart00282
Laminin_G_1 - pfam00054
Laminin_G_2 - pfam02210
Swiss-Prot Protein:
P24043
Default View:
Domains
found on the Protein
Domain ↕
CD Accession ↕
E-Value ↕
Start ↕
End ↕
EGF_Lam
cd00055
2.2e-17
343
412
EGF_Lam
cd00055
6.1e-15
413
467
EGF_Lam
cd00055
1.8e-06
468
516
EGF_Lam
cd00055
3.5e-17
756
805
EGF_Lam
cd00055
1.2e-14
806
863
EGF_Lam
cd00055
1e-16
864
916
EGF_Lam
cd00055
4.5e-18
917
965
EGF_Lam
cd00055
1.3e-15
966
1012
EGF_Lam
cd00055
5e-15
1013
1058
EGF_Lam
cd00055
1e-10
1059
1104
EGF_Lam
cd00055
6.9e-15
1105
1164
EGF_Lam
cd00055
4.3e-17
1419
1467
EGF_Lam
cd00055
3.9e-12
1468
1525
EGF_Lam
cd00055
1.7e-12
1526
1572
LamG
cd00110
1.5e-27
2145
2309
LamG
cd00110
2e-36
2340
2502
LamG
cd00110
3.4e-36
2528
2690
LamG
cd00110
4.1e-42
2765
2916
LamG
cd00110
1.8e-40
2941
3094
Laminin_N
pfam00055
7.7e-146
39
285
Laminin_EGF
pfam00053
0.0007
344
411
Laminin_EGF
pfam00053
3.9e-11
414
466
Laminin_EGF
pfam00053
5e-10
469
515
Laminin_B
pfam00052
9e-23
583
722
Laminin_EGF
pfam00053
2.5e-14
757
804
Laminin_EGF
pfam00053
2.9e-13
807
862
Laminin_EGF
pfam00053
5.6e-13
865
915
Laminin_EGF
pfam00053
7.8e-16
918
964
Laminin_EGF
pfam00053
6.6e-13
967
1011
Laminin_EGF
pfam00053
3.7e-12
1014
1057
Laminin_EGF
pfam00053
1.2e-07
1060
1103
Laminin_EGF
pfam00053
2.4e-10
1106
1163
Laminin_B
pfam00052
1.2e-36
1234
1378
Laminin_EGF
pfam00053
9.2e-13
1420
1466
Laminin_EGF
pfam00053
1.5e-11
1469
1524
Laminin_EGF
pfam00053
4.8e-07
1527
1571
Laminin_G_1
pfam00054
1.9e-46
2174
2314
Laminin_G_2
pfam02210
4.7e-15
2174
2311
Laminin_G_1
pfam00054
2.9e-51
2368
2507
Laminin_G_2
pfam02210
1.3e-23
2368
2504
Laminin_G_1
pfam00054
6.6e-54
2554
2695
Laminin_G_2
pfam02210
8.4e-20
2554
2692
Laminin_G_1
pfam00054
6.3e-55
2793
2921
Laminin_G_2
pfam02210
4.7e-33
2793
2918
Laminin_G_1
pfam00054
4.3e-21
2968
3102
Laminin_G_2
pfam02210
1.7e-27
2968
3096
LamNT
smart00136
2.7e-127
33
285
EGF_Lam
smart00180
5.8e-07
287
341
EGF_Lam
smart00180
1.1e-19
344
411
EGF_Lam
smart00180
2.8e-13
414
466
EGF_Lam
smart00180
1.3e-06
469
515
LamB
smart00281
1.4e-59
578
710
EGF_Lam
smart00180
2.6e-16
757
804
EGF_Lam
smart00180
5.5e-13
807
862
EGF_Lam
smart00180
4.5e-15
865
915
EGF_Lam
smart00180
3.5e-17
918
964
EGF_Lam
smart00180
5.6e-14
967
1011
EGF_Lam
smart00180
5.2e-13
1014
1057
EGF_Lam
smart00180
2.4e-08
1060
1103
EGF_Lam
smart00180
6.6e-16
1106
1163
LamB
smart00281
4.2e-69
1229
1364
EGF_Lam
smart00180
1.4e-15
1420
1466
EGF_Lam
smart00180
4.1e-10
1469
1524
EGF_Lam
smart00180
2.6e-11
1527
1574
Laminin_I
pfam06008
3.3e-90
1588
1853
Laminin_II
pfam06009
7.6e-61
2037
2173
LamG
smart00282
2.1e-35
2166
2311
LamG
smart00282
1.8e-39
2360
2504
LamG
smart00282
5.5e-36
2546
2692
LamG
smart00282
2.7e-40
2785
2918
LamG
smart00282
2e-36
2960
3096
Table of Mutations found on the Protein
Source ↕
Mut_ID ↕
Class ↕
HGVS ↕
Disease ↕
Swiss-Prot
VAR_047719
Polymorphism
p.ALA1945THR
N/A
Swiss-Prot
VAR_047720
Polymorphism
p.ALA2587VAL
N/A
Swiss-Prot
VAR_004166
Polymorphism
p.ARG619HIS
N/A
Swiss-Prot
VAR_004167
Polymorphism
p.ARG919LEU
N/A
Swiss-Prot
VAR_047713
Polymorphism
p.ARG96SER
N/A
Swiss-Prot
VAR_015744
Disease
p.CYS862ARG
Merosin-deficient congenital muscular dystrophy 1A (MDC1A)
Swiss-Prot
VAR_015743
Disease
p.CYS527TYR
Merosin-deficient congenital muscular dystrophy 1A (MDC1A)
Swiss-Prot
VAR_004169
Polymorphism
p.GLU2614LYS
N/A
Swiss-Prot
VAR_047715
Polymorphism
p.HIS644ASP
N/A
Swiss-Prot
VAR_004165
Polymorphism
p.LEU545GLN
N/A
Swiss-Prot
VAR_015745
Disease
p.LEU2564PRO
Merosin-deficient congenital muscular dystrophy 1A (MDC1A)
Swiss-Prot
VAR_047718
Polymorphism
p.LYS1561GLN
N/A
Swiss-Prot
VAR_035819
Polymorphism
p.PRO1160ALA
N/A
Swiss-Prot
VAR_047717
Polymorphism
p.THR1205ALA
N/A
Swiss-Prot
VAR_047721
Polymorphism
p.THR2636ALA
N/A
Swiss-Prot
VAR_047722
Polymorphism
p.THR3029ALA
N/A
Swiss-Prot
VAR_047714
Polymorphism
p.TYR240HIS
N/A
Swiss-Prot
VAR_004168
Polymorphism
p.TYR2586HIS
N/A
Swiss-Prot
VAR_047716
Polymorphism
p.VAL1138MET
N/A
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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