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Results for the Protein: NP_001073291
119466532

laminin subunit alpha-2 isoform b precursor [Homo sapiens]

Known Diseases associated with this Protein:
  MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT
  MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY
9
11
9
11
0
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 The Domains on the Default View are decided by the Domain's E-Value.

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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




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
EGF_Lamcd000552.2e-17343412
EGF_Lamcd000556.1e-15413467
EGF_Lamcd000551.8e-06468516
EGF_Lamcd000553.5e-17756805
EGF_Lamcd000551.2e-14806863
EGF_Lamcd000551e-16864916
EGF_Lamcd000554.5e-18917965
EGF_Lamcd000551.3e-159661012
EGF_Lamcd000555e-1510131058
EGF_Lamcd000551e-1010591104
EGF_Lamcd000556.9e-1511051164
EGF_Lamcd000554.3e-1714191467
EGF_Lamcd000553.9e-1214681525
EGF_Lamcd000551.7e-1215261572
LamGcd001101.5e-2721452309
LamGcd001102.6e-3623402498
LamGcd001101.3e-3525242686
LamGcd001104.1e-4227612912
LamGcd001101.8e-4029373090
Laminin_Npfam000557.7e-14639285
Laminin_EGFpfam000530.0007344411
Laminin_EGFpfam000533.9e-11414466
Laminin_EGFpfam000535e-10469515
Laminin_Bpfam000529e-23583722
Laminin_EGFpfam000532.5e-14757804
Laminin_EGFpfam000532.9e-13807862
Laminin_EGFpfam000535.6e-13865915
Laminin_EGFpfam000537.8e-16918964
Laminin_EGFpfam000536.6e-139671011
Laminin_EGFpfam000533.7e-1210141057
Laminin_EGFpfam000531.2e-0710601103
Laminin_EGFpfam000532.4e-1011061163
Laminin_Bpfam000521.2e-3612341378
Laminin_EGFpfam000539.2e-1314201466
Laminin_EGFpfam000531.5e-1114691524
Laminin_EGFpfam000534.8e-0715271571
Laminin_G_1pfam000541.9e-4621742314
Laminin_G_2pfam022104.7e-1521742311
Laminin_G_1pfam000543e-4823682503
Laminin_G_2pfam022101.1e-2423682500
Laminin_G_1pfam000542.7e-5325502691
Laminin_G_2pfam022103.4e-1925502688
Laminin_G_1pfam000546.3e-5527892917
Laminin_G_2pfam022104.7e-3327892914
Laminin_G_1pfam000544.3e-2129643098
Laminin_G_2pfam022101.7e-2729643092
LamNTsmart001362.7e-12733285
EGF_Lamsmart001805.8e-07287341
EGF_Lamsmart001801.1e-19344411
EGF_Lamsmart001802.8e-13414466
EGF_Lamsmart001801.3e-06469515
LamBsmart002811.4e-59578710
EGF_Lamsmart001802.6e-16757804
EGF_Lamsmart001805.5e-13807862
EGF_Lamsmart001804.5e-15865915
EGF_Lamsmart001803.5e-17918964
EGF_Lamsmart001805.6e-149671011
EGF_Lamsmart001805.2e-1310141057
EGF_Lamsmart001802.4e-0810601103
EGF_Lamsmart001806.6e-1611061163
LamBsmart002814.2e-6912291364
EGF_Lamsmart001801.4e-1514201466
EGF_Lamsmart001804.1e-1014691524
EGF_Lamsmart001802.6e-1115271574
Laminin_Ipfam060083.3e-9015881853
Laminin_IIpfam060097.6e-6120372173
LamGsmart002822.1e-3521662311
LamGsmart002828e-3723602500
LamGsmart002822.3e-3525422688
LamGsmart002822.7e-4027812914
LamGsmart002822e-3629563092

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2229848 Polymorphismp.ALA2583VALN/A
dbSNPrs3816665 Polymorphismp.ARG619HISN/A
dbSNPrs35277491 Polymorphismp.ARG919LEUN/A
dbSNPrs34626728 Polymorphismp.ARG96SERN/A
dbSNPrs73599293 Polymorphismp.ASN2839SERN/A
dbSNPrs35879899 Polymorphismp.HIS644ASPN/A
dbSNPrs35889149 Polymorphismp.THR1205ALAN/A
dbSNPrs2244008 Polymorphismp.THR2632ALAN/A
dbSNPrs34551216 Polymorphismp.THR3025ALAN/A
dbSNPrs73775407 Polymorphismp.THR2056LYSN/A
dbSNPrs2306942 Polymorphismp.VAL1138METN/A
OMIM156225.0011 Diseasep.ARG1549TERMUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY
OMIM156225.0012 Diseasep.ARG2383TERMUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY
OMIM156225.0008 Diseasep.ARG2574TERMUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT
OMIM156225.0005 Diseasep.ARG3081TERMUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT
OMIM156225.0009 Diseasep.CYS862ARGMUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY
OMIM156225.0013 Diseasep.CYS967TERMUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT
OMIM156225.0010 Diseasep.CYS527TYRMUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY
OMIM156225.0002 Diseasep.GLN1241TERMUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT
OMIM156225.0004 Diseasep.LEU2560PROMUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT



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