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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O75695: Variant p.Cys108Tyr

Protein XRP2
Gene: RP2
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Variant information Variant position: help 108
Type of variant: help LP/P [Disclaimer]
Residue change: help From Cysteine (C) to Tyrosine (Y) at position 108 (C108Y, p.Cys108Tyr).
Physico-chemical properties: help Change from medium size and polar (C) to large size and aromatic (Y)
BLOSUM score: help -2
Variant description: help In RP2.


Sequence information Variant position: help 108
Protein sequence length: help 350
Location on the sequence: help NCIIFLGPVKGSVFFRNCRD C KCTLACQQFRVRDCRKLEVF
Residue conservation: help
Human                         NCIIFLGPVKGSVFFRNCRDCKCTLACQQFRVRDCRKLEVF

Mouse                         NCVIFLGPVKGSVFFRNCRDCKCTLACQQFRVRDCRKLEVF

Chicken                       NCQIFLGPIKGSVFFRNCKDCKCIVACQQFRTRDCRRLEVF

Xenopus laevis                NCRIFLGPVKGSVFFRDCKDCKCVVACQQFRTRDCRRMDVF

Zebrafish                     NCRIVLGPVKGSVFFRDCKDIKCVVACQQFRTRDCKKMDVF

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 350 Protein XRP2
Domain 24 – 179 C-CAP/cofactor C-like
Mutagenesis 101 – 101 F -> A. Reduces affinity for mouse ARL3.
Mutagenesis 115 – 115 Q -> A. Reduces affinity for mouse ARL3.
Mutagenesis 116 – 116 Q -> A. Reduces affinity and GTP-hydrolysis rate for mouse ARL3.
Mutagenesis 118 – 118 R -> A. Reduces affinity and GTP-hydrolysis rate for mouse ARL3.
Mutagenesis 120 – 120 R -> H. Reduces affinity for mouse ARL3; when associated with S-121.
Mutagenesis 121 – 121 D -> S. Reduces affinity for mouse ARL3; when associated with H-120.
Beta strand 106 – 121



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 RP2 TYR-108;
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.