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Results for the Protein: Q9Y6N6
308153586

LAMC3_HUMAN RecName: Full=Laminin subunit gamma-3; AltName: Full=Laminin-12 subunit gamma; AltName: Full=Laminin-14 subunit gamma; AltName: Full=Laminin-15 subunit gamma; Flags: Precursor

Known Diseases associated with this Protein:
  CORTICAL MALFORMATIONS OCCIPITAL (OCCM)
  CORTICAL MALFORMATIONS, OCCIPITAL
4
10
3
8
3
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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


Swiss-Prot Protein: Q9Y6N6
Identical to: NP_006050
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
EGF_Lamcd000551.8e-14270325
EGF_Lamcd000552.7e-12326381
EGF_Lamcd000557.1e-14382428
EGF_Lamcd000551.2e-17429478
EGF_Lamcd000552e-17706753
EGF_Lamcd000558.9e-06754808
EGF_Lamcd000554.6e-16809864
EGF_Lamcd000554e-17865915
EGF_Lamcd000555.8e-19916963
EGF_Lamcd000554.3e-119641011
Laminin_Npfam000554.9e-11135269
Laminin_EGFpfam000531.4e-09271324
Laminin_EGFpfam000532.3e-12327380
Laminin_EGFpfam000536.6e-11383427
Laminin_EGFpfam000534.8e-17430477
Laminin_Bpfam000524.6e-10541671
Laminin_EGFpfam000535.4e-13707752
Laminin_EGFpfam000530.00014755807
Laminin_EGFpfam000538.2e-15810863
Laminin_EGFpfam000531.1e-15866914
Laminin_EGFpfam000532.1e-16917962
Laminin_EGFpfam000532.2e-109651013
LamNTsmart001361.5e-11129269
EGF_Lamsmart001804.7e-11271324
EGF_Lamsmart001809.9e-11327380
EGF_Lamsmart001807.2e-09383427
EGF_Lamsmart001809.2e-16430477
LamBsmart002815.9e-07536661
EGF_Lamsmart001804.2e-14707752
EGF_Lamsmart001800.00033755807
EGF_Lamsmart001804.2e-15810863
EGF_Lamsmart001804.4e-15866914
EGF_Lamsmart001803.6e-17917962
EGF_Lamsmart001801e-079651010

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs4740412 Polymorphismp.ARG1459GLNN/A
dbSNPrs3739510 Polymorphismp.ARG770GLYN/A
dbSNPrs116259120 Polymorphismp.ARG31LEUN/A
Swiss-ProtVAR_056149Polymorphismp.ARG1264TRPN/A
dbSNPrs10901333 Polymorphismp.GLU544GLYN/A
Swiss-ProtVAR_066404Diseasep.GLY350ARGCortical malformations occipital (OCCM)
dbSNPrs3739512 Polymorphismp.HIS73GLNN/A
dbSNPrs2275137 Polymorphismp.PRO174HISN/A
dbSNPrs869457 Polymorphismp.PRO522SERN/A
Swiss-ProtVAR_056148Polymorphismp.SER1082GLYN/A
dbSNPrs7024108 Polymorphismp.THR1433METN/A
OMIM604349.0003 Diseasep.GLN386TERCORTICAL MALFORMATIONS, OCCIPITAL
OMIM604349.0004 Diseasep.GLY350ARGCORTICAL MALFORMATIONS, OCCIPITAL
OMIM604349.0002 Diseasep.TRP157TERCORTICAL MALFORMATIONS, OCCIPITAL



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