Results for the protein: Q3SXY7

Results for the Protein: Q3SXY7

476007838

345193

LRIT3

NCBI, UniProt

LRIT3_HUMAN RecName: Full=Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3; Flags: Precursor

Known Diseases associated with this Protein:
NIGHT BLINDNESS, CONGENITAL STATIONARY, 1F (CSNB1F)

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7

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Swiss-Prot Protein: Q3SXY7

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Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ig5_NCAM-1	cd05869	0.00012	252	345
Ig3_NCAM-1_like	cd05730	4e-06	253	348
Ig3_Contactin_like	cd04968	1.6e-06	254	346
Ig2_FGFR_like	cd05729	3.4e-06	260	345
Ig2_FGFRL1-like	cd05856	1.9e-07	260	345
Ig2_Robo	cd05724	2.9e-06	263	343
Ig5_Contactin_like	cd04969	0.00034	268	345
Ig4_L1-NrCAM_like	cd04978	8.3e-06	268	346
Ig4_Robo	cd05726	0.0008	268	354
Ig3_Peroxidasin	cd05745	0.00045	268	345
Ig_2	cd05764	0.00058	268	345
Ig	cd00096	7e-10	271	342
Ig3_L1-CAM_like	cd05731	3.1e-06	271	346
Ig_1	cd05763	6.7e-05	271	346
Ig3_L1-CAM	cd05876	6.9e-05	271	346
LRR_TYP	smart00369	7.6e-05	128	151
LRR	smart00370	7.6e-05	128	151
LRR_TYP	smart00369	9.8e-05	152	175
LRR	smart00370	9.8e-05	152	175
I-set	pfam07679	6.3e-10	254	345
IG	smart00409	2e-12	260	346
IG_like	smart00410	2e-12	260	346
IGc2	smart00408	1.2e-11	267	335

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_036928	Polymorphism	p.ALA486THR	N/A
Swiss-Prot	VAR_069746	Disease	p.CYS328TYR	Night blindness, congenital stationary, 1F (CSNB1F)
Swiss-Prot	VAR_069134	Polymorphism	p.CYS592TYR	N/A
Swiss-Prot	VAR_036927	Polymorphism	p.MET336LEU	N/A
Swiss-Prot	VAR_061317	Polymorphism	p.SER175ASN	N/A
Swiss-Prot	VAR_069133	Polymorphism	p.SER494THR	N/A
Swiss-Prot	VAR_036929	Polymorphism	p.THR503MET	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.

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