UniProtKB/Swiss-Prot O75161: Variant p.Arg848Trp

Nephrocystin-4
Gene: NPHP4
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Variant information Variant position:

848 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Arginine (R) to Tryptophan (W) at position 848 (R848W, p.Arg848Trp). 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:

Change from large size and basic (R) to large size and aromatic (W) 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
Variant description:

Does not affect interaction with RPGRIP1L; does not affect interaction with RPGRIP1. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs17472401 [ dbSNP | Ensembl ]

Sequence information Variant position:

848 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1426 The length of the canonical sequence.
Location on the sequence:

VGHPCEQKVRGCSTLPPSRS R VISNDGASRFSGGSLLTTGS 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                         VGHPCEQKVRGCSTLPPSRSRVIS-NDGASRFSGGSLLTTGS

Mouse                         VGHACEPRARGSNLLPPSRSRVIS-NDGASFFSGGSLLIPG

Xenopus laevis                VGRPPEKKLKRRETLPPSNSRIITMHDGRTGFHGGSMLSNK

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	1 – 1426	Nephrocystin-4
Region	823 – 1426	Sufficient for basal bodies localization

Literature citations
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.
Otto E.; Hoefele J.; Ruf R.; Mueller A.M.; Hiller K.S.; Wolf M.T.F.; Schuermann M.J.; Becker A.; Birkenhaeger R.; Sudbrack R.; Hennies H.C.; Nuernberg P.; Hildebrandt F.;
Am. J. Hum. Genet. 71:1161-1167(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT NPHP4 ARG-754; VARIANT TRP-848; Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.
Roepman R.; Letteboer S.J.; Arts H.H.; van Beersum S.E.; Lu X.; Krieger E.; Ferreira P.A.; Cremers F.P.;
Proc. Natl. Acad. Sci. U.S.A. 102:18520-18525(2005)
Cited for: INTERACTION WITH RPGRIP1; INVOLVEMENT IN NPHP4; CHARACTERIZATION OF VARIANT NPHP4 ARG-754; CHARACTERIZATION OF VARIANTS HIS-740 AND TRP-848; Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
Arts H.H.; Doherty D.; van Beersum S.E.C.; Parisi M.A.; Letteboer S.J.F.; Gorden N.T.; Peters T.A.; Maerker T.; Voesenek K.; Kartono A.; Ozyurek H.; Farin F.M.; Kroes H.Y.; Wolfrum U.; Brunner H.G.; Cremers F.P.M.; Glass I.A.; Knoers N.V.A.M.; Roepman R.;
Nat. Genet. 39:882-888(2007)
Cited for: INTERACTION WITH RPGRIP1L; SUBCELLULAR LOCATION; INVOLVEMENT IN NPHP4; CHARACTERIZATION OF VARIANT NPHP4 ARG-754; CHARACTERIZATION OF VARIANTS HIS-740 AND TRP-848; Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.
Hoefele J.; Sudbrak R.; Reinhardt R.; Lehrack S.; Hennig S.; Imm A.; Muerb U.; Utsch B.; Attanasio M.; O'Toole J.F.; Otto E.; Hildebrandt F.;
Hum. Mutat. 25:411-411(2005)
Cited for: VARIANTS NPHP4 CYS-342; TRP-469; GLY-654; TRP-735; ARG-766; ARG-776; GLN-782; HIS-961; THR-1098; TRP-1192; CYS-1284 AND GLU-1287; VARIANTS SLSN4 TYR-3; LEU-91; MET-627; ALA-946 AND MET-1225; VARIANTS MET-29; GLY-544; LYS-618; HIS-740; ILE-765; TRP-848 AND 940-ALA-GLN-941 DEL;

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.