Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P48552: Variant p.Ile441Val

Nuclear receptor-interacting protein 1
Gene: NRIP1
Feedback?
Variant information Variant position: help 441 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Isoleucine (I) to Valine (V) at position 441 (I441V, p.Ile441Val). 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 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: help 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

Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 441 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1158 The length of the canonical sequence.
Location on the sequence: help NPSFTDDSSGDESSYSNCVP I DLSCKHRTEKSESDQPVSLD 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                         NPSFTDDSSGDESSYSNCVPIDLSCKHRTEKSESDQPVSLD

Mouse                         NPSFTDDSSGDESSYSNCVPIDLSCKHRIEKPEAERPVSLE

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 – 1158 Nuclear receptor-interacting protein 1
Region 410 – 700 Repression domain 2
Region 431 – 472 Required for targeting to small nuclear foci
Motif 440 – 446 CTBP-binding; principal site
Modified residue 446 – 446 N6-acetyllysine
Mutagenesis 440 – 443 PIDL -> AAAA. Abolishes interaction with CTBP1.
Mutagenesis 440 – 442 PID -> AIA. Abolishes interaction with CTBP1 and attenuates nuclear hormone receptor-dependent transcription repression.
Mutagenesis 446 – 446 K -> Q. Disrupts interaction with CTBP1. Decreases lysine acetylation. Disrupts nuclear hormone receptor-dependent transcription repression.
Mutagenesis 446 – 446 K -> R. Does not disrupt nuclear hormone receptor-dependent transcription repression.



Literature citations
Preliminary molecular genetic analysis of the receptor interacting protein 140 (RIP140) in women affected by endometriosis.
Caballero V.; Ruiz R.; Sainz J.A.; Cruz M.; Lopez-Nevot M.A.; Galan J.J.; Real L.M.; de Castro F.; Lopez-Villaverde V.; Ruiz A.;
J. Exp. Clin. Assist. Reprod. 2:11-11(2005)
Cited for: VARIANTS ARG-221; VAL-441; GLY-448; LEU-803 AND PHE-1079;
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.