Results for the protein: Q03395

Results for the Protein: Q03395

143745282

6094

ROM1

NCBI, UniProt

ROM1_HUMAN RecName: Full=Rod outer segment membrane protein 1; Short=ROSP1; AltName: Full=Tetraspanin-23; Short=Tspan-23

			0 9 0 0 9

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Default View: Tetraspannin - pfam00335 peripherin_like_LEL - cd03162 CD151_like_LEL - cd03155 tetraspanin_LEL - cd03127	Swiss-Prot Protein: Q03395 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CD151_like_LEL	cd03155	1e-06	123	265
peripherin_like_LEL	cd03162	1.2e-89	123	265
Tetraspannin	pfam00335	2.2e-33	11	293

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_006899	Polymorphism	p.ALA265THR	N/A
Swiss-Prot	VAR_008272	Polymorphism	p.ARG242GLN	N/A
Swiss-Prot	VAR_008269	Polymorphism	p.ARG16HIS	N/A
Swiss-Prot	VAR_006898	Polymorphism	p.ARG229HIS	N/A
Swiss-Prot	VAR_008271	Polymorphism	p.GLY118ALA	N/A
Swiss-Prot	VAR_008270	Polymorphism	p.GLY75ASP	N/A
Swiss-Prot	VAR_006900	Polymorphism	p.MET271THR	N/A
Swiss-Prot	VAR_006896	Polymorphism	p.PRO60THR	N/A
Swiss-Prot	VAR_006897	Polymorphism	p.THR108MET	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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