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|---|---|
| Accession Number: | P23942 |
| Protein Name: | Peripherin-2 |
| Length: | 346 |
| Molecular Weight: | 39186.00 |
| Species: | Homo sapiens (Human) [9606] |
| Number of TMSs: | 4 |
| Location1 / Topology2 / Orientation3: | Membrane1 / Multi-pass membrane protein2 |
| Substrate | |
Cross database links:
| Entrez Gene ID: | 5961 |
|---|---|
| Pfam: | PF00335 |
| KEGG: | hsa:5961 |
Gene Ontology | |
References (20)[1] “The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA.” Travis G.H.et.al. 1679750 [2] “The DNA sequence and analysis of human chromosome 6.” Mungall A.J.et.al. 14574404 [3] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).” The MGC Project Teamet.al. 15489334 [4] “Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration.” Keen T.J.et.al. 8956033 [5] “A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa.” Farrar G.J.et.al. 1749427 [6] “Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.” Kajiwara K.et.al. 1684223 [7] “Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree.” Farrar G.J.et.al. 1427912 [8] “” Farrar G.J.et.al. 8449524 [9] “Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene.” Nichols B.E.et.al. 8485574 [10] “Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.” Wells J.et.al. 8485576 [11] “Choroidal neovascularization in a patient with adult foveomacular dystrophy and a mutation in the retinal degeneration slow gene (Pro 210 Arg).” Feist R.M.et.al. 7519821 [12] “A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP.” Kikawa E.et.al. 8020945 [13] “A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy.” Reig C.et.al. 7493155 [14] “A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.” Gorin M.B.et.al. 7862413 [15] “Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene.” Felbor U.et.al. 9338584 [16] “Founder effect, seen in the British population, of the 172 peripherin/RDS mutation- and further refinement of genetic positioning of the peripherin/RDS gene.” Payne A.M.et.al. 9443872 [17] “Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish families affected with autosomal dominant retinal degenerations.” Trujillo M.J.et.al. 10627133 [18] “A peculiar autosomal dominant macular dystrophy caused by an asparagine deletion at codon 169 in the peripherin/RDS gene.” van Lith-Verhoeven J.J.et.al. 14557182 [19] “A novel mutation in the RDS gene in an Italian family with pattern dystrophy.” Testa F.et.al. 16024869 [20] “Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene.” Keilhauer C.N.et.al. 16832026
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External Searches:
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Analyze:
| Predict TMSs (Predict number of transmembrane segments) | ||||
| FASTA formatted sequence |
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1: MALLKVKFDQ KKRVKLAQGL WLMNWFSVLA GIIIFSLGLF LKIELRKRSD VMNNSESHFV 61: PNSLIGMGVL SCVFNSLAGK ICYDALDPAK YARWKPWLKP YLAICVLFNI ILFLVALCCF 121: LLRGSLENTL GQGLKNGMKY YRDTDTPGRC FMKKTIDMLQ IEFKCCGNNG FRDWFEIQWI 181: SNRYLDFSSK EVKDRIKSNV DGRYLVDGVP FSCCNPSSPR PCIQYQITNN SAHYSYDHQT 241: EELNLWVRGC RAALLSYYSS LMNSMGVVTL LIWLFEVTIT IGLRYLQTSL DGVSNPEESE 301: SESEGWLLEK SVPETWKAFL ESVKKLGKGN QVEAEGAGAG QAPEAG