Variant position: 96 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 ATLQQQLGAGEALGLSPEEA MELLQGQGPVPVDGPHGYYPG
Mouse ATLQQQLGSDEVLGLSPDEA VELLQNQGPVSMEGPLGYYSG
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
1 – 139 Missing. In isoform 2.
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;
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