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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P23942: Variant p.Pro216Arg

Peripherin-2
Gene: PRPH2
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Variant information Variant position: help 216
Type of variant: help LP/P [Disclaimer]
Residue change: help From Proline (P) to Arginine (R) at position 216 (P216R, p.Pro216Arg).
Physico-chemical properties: help Change from medium size and hydrophobic (P) to large size and basic (R)
BLOSUM score: help -2
Variant description: help In RP7.
Other resources: help


Sequence information Variant position: help 216
Protein sequence length: help 346
Location on the sequence: help IKSNVDGRYLVDGVPFSCCN P SSPRPCIQYQITNNSAHYSY
Residue conservation: help 
Human                         IKSNVDGRYLVDGVPFSCCNPSSPRPCIQYQITNNSAHYSY

                              IKSNVDGRYLVDGVPFSCCNPSSPRPCIQYQLTNNSAHYSY

Mouse                         IKSNVDGRYLVDGVPFSCCNPSSPRPCIQYQLTNNSAHYSY

Rat                           IKSNVDGRYLVDGVPFSCCNPSSPRPCIQYQLTNNSAHYSY

Bovine                        IKSNVDGRYLVDGVPFSCCNPNSPRPCIQYQLTNNSAHYSY

Cat                           IKSNVDGRYLVDGVPFSCCNPNSPRPCIQYQLTNNSAHYSY

Chicken                       IKSNVDGRYLVDGVPFSCCNPSSPRPCIQYQVTNNSAHYSY

Xenopus laevis                IQSNVDGKYLIDGVPFSCCNPSSPRPCIQLQVTNNSAHYSY
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 346 Peripherin-2
Topological domain 124 – 264 Lumenal
Glycosylation 229 – 229 N-linked (GlcNAc...) asparagine



Literature citations
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.
Sullivan L.S.; Bowne S.J.; Birch D.G.; Hughbanks-Wheaton D.; Heckenlively J.R.; Lewis R.A.; Garcia C.A.; Ruiz R.S.; Blanton S.H.; Northrup H.; Gire A.I.; Seaman R.; Duzkale H.; Spellicy C.J.; Zhu J.; Shankar S.P.; Daiger S.P.;
Invest. Ophthalmol. Vis. Sci. 47:3052-3064(2006)
Cited for: VARIANT SER-137; VARIANTS RP7 CYS-141; ARG-198 AND ARG-216;
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.