Sequence information
Variant position: 188 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 350 The length of the canonical sequence.
Location on the sequence:
NNTWSNIHDFTPVSGELNWS
L LPEDAVVQDYVPIPTTEELK
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 NNTWSNIHDFTPVSGELNWSL LPEDAVVQDYVPIPTTE-ELK
Mouse NNIWSHVHDFTPVSGELNWSL LPENAVVQDYVPIPMTE-EF
Chicken NNTWSNIHDFTPVSGENNWGL LPENAVVQDYVPLPASE-EL
Xenopus laevis NNTWSNIHDFTPVAGETNWSL LPPDAVIQDFIPLPDSD-EL
Zebrafish NNNWSNIHDFTPVSGETNWSL LPEDAVVLDHVPLPDPESEF
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
Chain
2 – 350
Protein XRP2
Mutagenesis
177 – 177
F -> A. Reduces affinity and GTP-hydrolysis rate for mouse ARL3.
Beta strand
185 – 188
Literature citations
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.
Breuer D.K.; Yashar B.M.; Filippova E.; Hiriyanna S.; Lyons R.H.; Mears A.J.; Asaye B.; Acar C.; Vervoort R.; Wright A.F.; Musarella M.A.; Wheeler P.; MacDonald I.; Iannaccone A.; Birch D.; Hoffman D.R.; Fishman G.A.; Heckenlively J.R.; Jacobson S.G.; Sieving P.A.; Swaroop A.;
Am. J. Hum. Genet. 70:1545-1554(2002)
Cited for: VARIANTS RP2 TYR-67; HIS-118; ILE-137 DEL AND PRO-188; VARIANT TRP-282;
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.