UniProtKB/SwissProt variant VAR

Peripherin-2
Gene: PRPH2
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Variant information Variant position:

142
Type of variant:

LP/P [Disclaimer]
Residue change:

From Arginine (R) to Tryptophan (W) at position 142 (R142W, p.Arg142Trp).
Physico-chemical properties:

Change from large size and basic (R) to large size and aromatic (W)
BLOSUM score:

-3
Variant description:

In RP7; also found in a patient with central areolar choroidal dystrophy.
Other resources:

Variant rs61755783 [ dbSNP | Ensembl ]

Sequence information Variant position:

142
Protein sequence length:

346
Location on the sequence:

LRGSLENTLGQGLKNGMKYY R DTDTPGRCFMKKTIDMLQIE
Residue conservation:

Human                         LRGSLENTLGQGLKNGMKYYRDTDTPGRCFMKKTIDMLQIE

                              MRGSLESTLAHGLKNGMKYYRDTDTPGRCFMKKTIDMLQIE

Mouse                         LRGSLESTLAYGLKNGMKYYRDTDTPGRCFMKKTIDMLQIE

Rat                           LRGSLESTLAYGLKNGMKYYRDTDTPGRCFMKKTIDMLQIE

Bovine                        LRGSLESTLAHGLKNGMKFYRDTDTPGRCFMKKTIDMLQIE

Cat                           MRGSLESTLAQGLKNGMKYYRDTDTPGRCFMKKTIDLLQIE

Chicken                       MRGSLESTLAQGLKNSMKFYRDTDTPGRCFMKKTIDMLQIE

Xenopus laevis                TRGSLESTLAHGLKNGMRYYKDTDIPGRCFLKKTIDLLQIE

Sequence annotation in neighborhood:

Type	Positions	Description
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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P23942: Variant p.Arg142Trp