Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P23942: Variant p.Arg142Trp

Peripherin-2
Gene: PRPH2
Feedback?
Variant information Variant position: help 142
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Tryptophan (W) at position 142 (R142W, p.Arg142Trp).
Physico-chemical properties: help Change from large size and basic (R) to large size and aromatic (W)
BLOSUM score: help -3
Variant description: help In RP7; also found in a patient with central areolar choroidal dystrophy.
Other resources: help


Sequence information Variant position: help 142
Protein sequence length: help 346
Location on the sequence: help LRGSLENTLGQGLKNGMKYY R DTDTPGRCFMKKTIDMLQIE
Residue conservation: help
Human                         LRGSLENTLGQGLKNGMKYYRDTDTPGRCFMKKTIDMLQIE

                              MRGSLESTLAHGLKNGMKYYRDTDTPGRCFMKKTIDMLQIE

Mouse                         LRGSLESTLAYGLKNGMKYYRDTDTPGRCFMKKTIDMLQIE

Rat                           LRGSLESTLAYGLKNGMKYYRDTDTPGRCFMKKTIDMLQIE

Bovine                        LRGSLESTLAHGLKNGMKFYRDTDTPGRCFMKKTIDMLQIE

Cat                           MRGSLESTLAQGLKNGMKYYRDTDTPGRCFMKKTIDLLQIE

Chicken                       MRGSLESTLAQGLKNSMKFYRDTDTPGRCFMKKTIDMLQIE

Xenopus laevis                TRGSLESTLAHGLKNGMRYYKDTDIPGRCFLKKTIDLLQIE

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 346 Peripherin-2
Topological domain 124 – 264 Lumenal
Disulfide bond 150 – 150 Interchain (with ROM1)



Literature citations
Next-generation genetic testing for retinitis pigmentosa.
Neveling K.; Collin R.W.; Gilissen C.; van Huet R.A.; Visser L.; Kwint M.P.; Gijsen S.J.; Zonneveld M.N.; Wieskamp N.; de Ligt J.; Siemiatkowska A.M.; Hoefsloot L.H.; Buckley M.F.; Kellner U.; Branham K.E.; den Hollander A.I.; Hoischen A.; Hoyng C.; Klevering B.J.; van den Born L.I.; Veltman J.A.; Cremers F.P.; Scheffer H.;
Hum. Mutat. 33:963-972(2012)
Cited for: VARIANT RP7 TRP-142;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.