Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: P32004
1705571

L1CAM_HUMAN RecName: Full=Neural cell adhesion molecule L1; Short=N-CAM-L1; Short=NCAM-L1; AltName: CD_antigen=CD171; Flags: Precursor

Known Diseases associated with this Protein:
  HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS (HSAS)
  MENTAL RETARDATION, APHASIA, SHUFFLING GAIT, AND ADDUCTED THUMBS SYNDROME (MASA)
  SPASTIC PARAPLEGIA 1, X-LINKED (SPG1)
44
5
0
1
48
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:

I-set - pfam07679
IG - smart00409
IG_like - smart00410
IGc2 - smart00408
FN3 - smart00060


Swiss-Prot Protein: P32004
Identical to: NP_000416
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
I-setpfam076798.5e-0535132
IG_likesmart004108e-1142133
IGsmart004098e-1142133
IGc2smart004083.7e-0549121
IG_likesmart004104.5e-10143230
IGsmart004094.5e-10143230
I-setpfam076793e-12242329
IG_likesmart004101.5e-17249330
IGsmart004091.5e-17249330
IGc2smart004083e-22256319
I-setpfam076799.8e-07333421
IG_likesmart004101.2e-13339422
IGsmart004091.2e-13339422
IGc2smart004081.4e-09346411
I-setpfam076796.6e-07426514
IG_likesmart004102e-13433515
IGsmart004092e-13433515
IGc2smart004084.3e-07440504
I-setpfam076792e-09518608
IG_likesmart004102.4e-15524609
IGsmart004092.4e-15524609
IGc2smart004087.1e-08531598
FN3smart000608e-13612698
FN3smart000607.9e-10715797
FN3smart000601.8e-11812904
FN3smart000604.9e-159181002

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_030410Diseasep.ALA426ASPMental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-ProtVAR_003939Diseasep.ALA691ASPMental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-ProtVAR_027512Diseasep.ALA415PROHydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-ProtVAR_030416Diseasep.ALA691THRHydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-ProtVAR_003933Diseasep.ARG386CYSHydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-ProtVAR_003936Diseasep.ARG473CYSMental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-ProtVAR_003924Diseasep.ARG184GLNHydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-ProtVAR_003938Diseasep.ARG632PROMental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-ProtVAR_030419Diseasep.ARG751PROHydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-ProtVAR_030404Diseasep.ARG184TRPHydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-ProtVAR_030417Polymorphismp.ARG739TRPN/A
Swiss-ProtVAR_030408Diseasep.ASN408ILEHydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-ProtVAR_003937Diseasep.ASP598ASNMental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-ProtVAR_027514Diseasep.ASP770ASNMental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-ProtVAR_030405Diseasep.ASP202TYRMental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-ProtVAR_003929Diseasep.CYS264TYRHydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-ProtVAR_030412Diseasep.CYS497TYRHydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-ProtVAR_003930Diseasep.GLU309LYSMental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-ProtVAR_003932Diseasep.GLY370ARGSpastic paraplegia 1, X-linked (SPG1)
Swiss-ProtVAR_003935Diseasep.GLY452ARGHydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-ProtVAR_003940Diseasep.GLY698ARGMental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-ProtVAR_030406Diseasep.GLY268ASPMental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-ProtVAR_030421Polymorphismp.GLY1239GLUN/A
Swiss-ProtVAR_003922Diseasep.GLY121SERHydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-ProtVAR_030403Polymorphismp.HIS30ASNN/A
Swiss-ProtVAR_003926Diseasep.HIS210GLNMental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-ProtVAR_003923Diseasep.ILE179SERSpastic paraplegia 1, X-linked (SPG1)
Swiss-ProtVAR_003927Diseasep.ILE219THRHydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-ProtVAR_030411Diseasep.LEU482PROMental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-ProtVAR_003943Diseasep.LEU935PROHydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
dbSNPrs35902890 Polymorphismp.LEU958VALN/A
Swiss-ProtVAR_030415Diseasep.LYS655GLUHydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-ProtVAR_030418Diseasep.MET741THRHydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-ProtVAR_003928Diseasep.PRO240LEUHydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-ProtVAR_003945Diseasep.PRO941LEUMental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-ProtVAR_027513Diseasep.SER674CYSMental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-ProtVAR_003947Diseasep.SER1194LEUMental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-ProtVAR_003948Diseasep.SER1224LEUHydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-ProtVAR_030414Diseasep.SER542PROHydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-ProtVAR_003931Diseasep.TRP335ARGMental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-ProtVAR_030407Diseasep.TRP335CYSHydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-ProtVAR_003921Diseasep.TRP9SERHydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-ProtVAR_003946Diseasep.TYR1070CYSHydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-ProtVAR_003925Diseasep.TYR194CYSHydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-ProtVAR_003942Diseasep.TYR784CYSHydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-ProtVAR_030409Diseasep.VAL421ASPHydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-ProtVAR_030420Polymorphismp.VAL768ILEN/A
Swiss-ProtVAR_014421Diseasep.VAL752METMental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-ProtVAR_003941Diseasep.VAL768PHEHydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258