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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O75161: Variant p.Phe91Leu

Nephrocystin-4
Gene: NPHP4
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Variant information Variant position: help 91 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Phenylalanine (F) to Leucine (L) at position 91 (F91L, p.Phe91Leu). 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: help Change from large size and aromatic (F) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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: help In SLSN4; also found in a patient with cardiac laterality defects; impairs localization to the ciliary transition zone. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 91 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1426 The length of the canonical sequence.
Location on the sequence: help FGRTWKTTVKPTKRPPSRIV F NEPLYFHTSLNHPHIVAVVE 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         FGRTWKTTVKPTKRPP---SRIVFNEPLYFHTSLNHPHIVAVVE

Mouse                         FGRTWKTTVKPTNQPSKQPPRITFNEPLYFHTTLSHPSIVA

Xenopus laevis                FGRTWKSSTKPIKAIPGKASKILFNEPIYFYTTLIDPSIMA
Sequence annotation in neighborhood: help 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 – 1426 Nephrocystin-4



Literature citations
NPHP4 variants are associated with pleiotropic heart malformations.
French V.M.; van de Laar I.M.; Wessels M.W.; Rohe C.; Roos-Hesselink J.W.; Wang G.; Frohn-Mulder I.M.; Severijnen L.A.; de Graaf B.M.; Schot R.; Breedveld G.; Mientjes E.; van Tienhoven M.; Jadot E.; Jiang Z.; Verkerk A.; Swagemakers S.; Venselaar H.; Rahimi Z.; Najmabadi H.; Meijers-Heijboer H.; de Graaff E.; Helbing W.A.; Willemsen R.; Devriendt K.; Belmont J.W.; Oostra B.A.; Amack J.D.; Bertoli-Avella A.M.;
Circ. Res. 110:1564-1574(2012)
Cited for: POSSIBLE INVOLVEMENT IN HEART MALFORMATIONS; VARIANT NPHP4 TRP-1192; VARIANT SLSN4 LEU-91; VARIANTS TYR-164; LEU-541; MET-883; CYS-906; HIS-1044; VAL-1110 AND MET-1236; 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; Assessing the pathogenic potential of human Nephronophthisis disease-associated NPHP-4 missense mutations in C. elegans.
Masyukova S.V.; Winkelbauer M.E.; Williams C.L.; Pieczynski J.N.; Yoder B.K.;
Hum. Mol. Genet. 20:2942-2954(2011)
Cited for: CHARACTERIZATION OF VARIANTS SLSN4 LEU-91;
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.