Results for the protein: P32004

Results for the Protein: P32004

1705571

3897

L1CAM

NCBI, UniProt

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:

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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 ↕
IG_like	smart00410	8e-11	42	133
IG	smart00409	8e-11	42	133
IGc2	smart00408	3.7e-05	49	121
IG_like	smart00410	4.5e-10	143	230
IG	smart00409	4.5e-10	143	230
I-set	pfam07679	3e-12	242	329
IG_like	smart00410	1.5e-17	249	330
IG	smart00409	1.5e-17	249	330
IGc2	smart00408	3e-22	256	319
I-set	pfam07679	9.8e-07	333	421
IG_like	smart00410	1.2e-13	339	422
IG	smart00409	1.2e-13	339	422
IGc2	smart00408	1.4e-09	346	411
I-set	pfam07679	6.6e-07	426	514
IG_like	smart00410	2e-13	433	515
IG	smart00409	2e-13	433	515
IGc2	smart00408	4.3e-07	440	504
I-set	pfam07679	2e-09	518	608
IG_like	smart00410	2.4e-15	524	609
IG	smart00409	2.4e-15	524	609
IGc2	smart00408	7.1e-08	531	598
FN3	smart00060	8e-13	612	698
FN3	smart00060	7.9e-10	715	797
FN3	smart00060	1.8e-11	812	904
FN3	smart00060	4.9e-15	918	1002

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_030410	Disease	p.ALA426ASP	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-Prot	VAR_003939	Disease	p.ALA691ASP	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-Prot	VAR_027512	Disease	p.ALA415PRO	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-Prot	VAR_030416	Disease	p.ALA691THR	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-Prot	VAR_003933	Disease	p.ARG386CYS	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-Prot	VAR_003936	Disease	p.ARG473CYS	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-Prot	VAR_003924	Disease	p.ARG184GLN	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-Prot	VAR_003938	Disease	p.ARG632PRO	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-Prot	VAR_030419	Disease	p.ARG751PRO	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-Prot	VAR_030404	Disease	p.ARG184TRP	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-Prot	VAR_030417	Polymorphism	p.ARG739TRP	N/A
Swiss-Prot	VAR_030408	Disease	p.ASN408ILE	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-Prot	VAR_003937	Disease	p.ASP598ASN	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-Prot	VAR_027514	Disease	p.ASP770ASN	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-Prot	VAR_030405	Disease	p.ASP202TYR	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-Prot	VAR_003929	Disease	p.CYS264TYR	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-Prot	VAR_030412	Disease	p.CYS497TYR	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-Prot	VAR_003930	Disease	p.GLU309LYS	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-Prot	VAR_003932	Disease	p.GLY370ARG	Spastic paraplegia 1, X-linked (SPG1)
Swiss-Prot	VAR_003935	Disease	p.GLY452ARG	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-Prot	VAR_003940	Disease	p.GLY698ARG	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-Prot	VAR_030406	Disease	p.GLY268ASP	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-Prot	VAR_030421	Polymorphism	p.GLY1239GLU	N/A
Swiss-Prot	VAR_003922	Disease	p.GLY121SER	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-Prot	VAR_030403	Polymorphism	p.HIS30ASN	N/A
Swiss-Prot	VAR_003926	Disease	p.HIS210GLN	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-Prot	VAR_003923	Disease	p.ILE179SER	Spastic paraplegia 1, X-linked (SPG1)
Swiss-Prot	VAR_003927	Disease	p.ILE219THR	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-Prot	VAR_030411	Disease	p.LEU482PRO	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-Prot	VAR_003943	Disease	p.LEU935PRO	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
dbSNP	rs35902890	Polymorphism	p.LEU958VAL	N/A
Swiss-Prot	VAR_030415	Disease	p.LYS655GLU	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-Prot	VAR_030418	Disease	p.MET741THR	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-Prot	VAR_003928	Disease	p.PRO240LEU	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-Prot	VAR_003945	Disease	p.PRO941LEU	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-Prot	VAR_027513	Disease	p.SER674CYS	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-Prot	VAR_003947	Disease	p.SER1194LEU	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-Prot	VAR_003948	Disease	p.SER1224LEU	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-Prot	VAR_030414	Disease	p.SER542PRO	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-Prot	VAR_003931	Disease	p.TRP335ARG	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-Prot	VAR_030407	Disease	p.TRP335CYS	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-Prot	VAR_003921	Disease	p.TRP9SER	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-Prot	VAR_003946	Disease	p.TYR1070CYS	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-Prot	VAR_003925	Disease	p.TYR194CYS	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-Prot	VAR_003942	Disease	p.TYR784CYS	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-Prot	VAR_030409	Disease	p.VAL421ASP	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
Swiss-Prot	VAR_030420	Polymorphism	p.VAL768ILE	N/A
Swiss-Prot	VAR_014421	Disease	p.VAL752MET	Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
Swiss-Prot	VAR_003941	Disease	p.VAL768PHE	Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)

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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