Results for the protein: Q8IWN7

Results for the Protein: Q8IWN7

317373543

94137

RP1L1

NCBI, UniProt

RP1L1_HUMAN RecName: Full=Retinitis pigmentosa 1-like 1 protein

Known Diseases associated with this Protein:
OCCULT MACULAR DYSTROPHY (OCMD)

3

35

0

0

38

Tips:

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Default View: DCX - smart00537 DCX - cd01617 DCX - pfam03607 S-antigen - pfam05756	Swiss-Prot Protein: Q8IWN7 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DCX	cd01617	4.3e-13	152	227
DCX	pfam03607	1.9e-22	51	111
DCX	pfam03607	2e-16	168	226
DCX	smart00537	1.1e-13	29	116
DCX	smart00537	2.1e-09	147	231
S-antigen	pfam05756	1.1e-06	1805	2332

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_017729	Polymorphism	p.ALA2026GLU	N/A
Swiss-Prot	VAR_017710	Polymorphism	p.ALA1285SER	N/A
Swiss-Prot	VAR_017705	Polymorphism	p.ALA624THR	N/A
Swiss-Prot	VAR_017721	Polymorphism	p.ALA1563VAL	N/A
Swiss-Prot	VAR_017725	Polymorphism	p.ALA1789VAL	N/A
Swiss-Prot	VAR_017704	Polymorphism	p.ALA487VAL	N/A
Swiss-Prot	VAR_017701	Polymorphism	p.ARG56CYS	N/A
Swiss-Prot	VAR_017703	Polymorphism	p.ARG136HIS	N/A
Swiss-Prot	VAR_047388	Polymorphism	p.ARG1547SER	N/A
Swiss-Prot	VAR_017709	Polymorphism	p.ARG1146TRP	N/A
Swiss-Prot	VAR_065126	Disease	p.ARG45TRP	Occult macular dystrophy (OCMD)
Swiss-Prot	VAR_017708	Polymorphism	p.ARG860TRP	N/A
Swiss-Prot	VAR_017728	Polymorphism	p.ASP1969VAL	N/A
Swiss-Prot	VAR_017732	Polymorphism	p.GLN2168HIS	N/A
Swiss-Prot	VAR_017712	Polymorphism	p.GLU1324GLY	N/A
Swiss-Prot	VAR_056980	Polymorphism	p.GLU1340GLY	N/A
Swiss-Prot	VAR_017736	Polymorphism	p.GLU2322GLY	N/A
Swiss-Prot	VAR_056981	Polymorphism	p.GLU2171LYS	N/A
Swiss-Prot	VAR_017733	Polymorphism	p.GLU2220LYS	N/A
Swiss-Prot	VAR_017734	Polymorphism	p.GLU2251LYS	N/A
Swiss-Prot	VAR_017707	Polymorphism	p.GLU795LYS	N/A
Swiss-Prot	VAR_017711	Polymorphism	p.GLY1319ALA	N/A
Swiss-Prot	VAR_017715	Polymorphism	p.GLY1335ARG	N/A
Swiss-Prot	VAR_017737	Polymorphism	p.GLY2365ARG	N/A
Swiss-Prot	VAR_017726	Polymorphism	p.GLY1896ASP	N/A
Swiss-Prot	VAR_017720	Polymorphism	p.GLY1420GLU	N/A
Swiss-Prot	VAR_017731	Polymorphism	p.GLY2149VAL	N/A
Swiss-Prot	VAR_017738	Polymorphism	p.HIS2415ARG	N/A
Swiss-Prot	VAR_056979	Polymorphism	p.HIS222PRO	N/A
Swiss-Prot	VAR_017706	Polymorphism	p.LEU792PRO	N/A
Swiss-Prot	VAR_017700	Polymorphism	p.PRO44ALA	N/A
Swiss-Prot	VAR_017722	Polymorphism	p.PRO1575ARG	N/A
Swiss-Prot	VAR_017735	Polymorphism	p.PRO2279LEU	N/A
Swiss-Prot	VAR_068350	Disease	p.SER1199CYS	Occult macular dystrophy (OCMD)
Swiss-Prot	VAR_017723	Polymorphism	p.SER1585LEU	N/A
Swiss-Prot	VAR_017730	Polymorphism	p.THR2034ALA	N/A
Swiss-Prot	VAR_017702	Polymorphism	p.THR112SER	N/A
Swiss-Prot	VAR_065127	Disease	p.TRP960ARG	Occult macular dystrophy (OCMD)

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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