Variant position: 50 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 237 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 GRPGPPTASLGSTPYSSVPP SPTFSEPGMVGATEGTRPGLE
Mouse GRSGVPTASLGSTPYSSVPP SPTFSEPGMVGGGEAPRPGLE
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 – 237 Neural retina-specific leucine zipper protein
30 – 93 Minimal transactivation domain (MTD)
1 – 139 Missing. In isoform 2.
A mutation in NRL is associated with autosomal dominant retinitis pigmentosa.
Bessant D.A.R.; Payne A.M.; Mitton K.P.; Wang Q.-L.; Swain P.K.; Plant C.; Bird A.C.; Zack D.J.; Swaroop A.; Bhattacharya S.S.;
Nat. Genet. 21:355-356(1999)
Cited for: VARIANT RP27 THR-50;
Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.
Kanda A.; Friedman J.S.; Nishiguchi K.M.; Swaroop A.;
Hum. Mutat. 28:589-598(2007)
Cited for: CHARACTERIZATION OF VARIANTS RP27 LEU-50; PRO-50; THR-50; LEU-51; SER-51; THR-51; SER-67 AND GLU-122; CHARACTERIZATION OF VARIANTS RDCP VAL-76 AND PRO-160; CHARACTERIZATION OF VARIANT GLN-125; FUNCTION; DNA-BINDING; SUBCELLULAR LOCATION; PHOSPHORYLATION;
Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa.
Hernan I.; Gamundi M.J.; Borras E.; Maseras M.; Garcia-Sandoval B.; Blanco-Kelly F.; Ayuso C.; Carballo M.;
Clin. Genet. 82:446-452(2012)
Cited for: VARIANT RP27 THR-96; CHARACTERIZATION OF VARIANTS RP27 THR-50; LEU-51 AND THR-96; FUNCTION;
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.