Variant position: 320 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1020 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human ISCGENHTALITDIGLMYTF GDGRHGKLGLGLENFTNHFIP
Mouse ISCGENHTALMTELGLLYTF GDGRHGKLGLGMENFTNQFFP
Dog IACGENHTALITDMGLMYTF GDGRHGKLGLGLENSTNQFIP
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 1017 X-linked retinitis pigmentosa GTPase regulator
314 – 367 RCC1 6
323 – 323 R -> E. Abolishes interaction with RPGRIP1.
316 – 320
C2 domains as protein-protein interaction modules in the ciliary transition zone.
Remans K.; Burger M.; Vetter I.R.; Wittinghofer A.;
Cell Rep. 8:1-9(2014)
Cited for: X-RAY CRYSTALLOGRAPHY (1.83 ANGSTROMS) OF 1-392 IN COMPLEX WITH RPGRIP1; INTERACTION WITH RPGRIP1; RPGRIP1L AND PDE6D; DOMAIN; MUTAGENESIS OF ARG-323; CHARACTERIZATION OF VARIANT RP3 ARG-320;
RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.
Sharon D.; Sandberg M.A.; Rabe V.W.; Stillberger M.; Dryja T.P.; Berson E.L.;
Am. J. Hum. Genet. 73:1131-1146(2003)
Cited for: VARIANTS RP3 ASN-312; TYR-312 AND ARG-320;
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.