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UniProtKB/Swiss-Prot P54845: Variant p.Pro51Leu

Neural retina-specific leucine zipper protein
Gene: NRL
Chromosomal location: 14q11.1-q11.2
Variant information

Variant position:  51
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Proline (P) to Leucine (L) at position 51 (P51L, p.Pro51Leu).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Involvement in disease:  Retinitis pigmentosa 27 (RP27) [MIM:613750]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:10192380, ECO:0000269|PubMed:11385710, ECO:0000269|PubMed:11879142, ECO:0000269|PubMed:15591106, ECO:0000269|PubMed:15994872, ECO:0000269|PubMed:17335001, ECO:0000269|PubMed:21981118, ECO:0000269|PubMed:22334370}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In RP27; decreases phosphorylation; no effect on subcellular localization; increased transcriptional coactivator activity.
Any additional useful information about the variant.



Sequence information

Variant position:  51
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:   RPGPPTASLGSTPYSSVPPS  P TFSEPGMVGATEGTRPGLEE
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                         RPGPPTASLGSTPYSSVPPSPTFSEPGMVGATEGTRPGLEE

Mouse                         RSGVPTASLGSTPYSSVPPSPTFSEPGMVGGGEAPRPGLEE

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.

TypePositionsDescription
Chain 1 – 237 Neural retina-specific leucine zipper protein
Region 30 – 93 Minimal transactivation domain (MTD)
Alternative sequence 1 – 139 Missing. In isoform 2.


Literature citations

Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa.
Martinez-Gimeno M.; Maseras M.; Baiget M.; Beneito M.; Antinolo G.; Ayuso C.; Carballo M.;
Hum. Mutat. 17:520-520(2001)
Cited for: VARIANTS RP27 LEU-51 AND GLU-122; INVOLVEMENT IN RP27;

Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families.
Ziviello C.; Simonelli F.; Testa F.; Anastasi M.; Marzoli S.B.; Falsini B.; Ghiglione D.; Macaluso C.; Manitto M.P.; Garre C.; Ciccodicola A.; Rinaldi E.; Banfi S.;
J. Med. Genet. 42:E47-E47(2005)
Cited for: VARIANT RP27 LEU-51; VARIANT SER-67;

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;

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.