UniProtKB/Swiss-Prot P48552: Variant p.Arg448Gly

Nuclear receptor-interacting protein 1
Gene: NRIP1
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Variant information Variant position:

448 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 Glycine (G) at position 448 (R448G, p.Arg448Gly). 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 glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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:

Links to websites of interest for the variant.

Variant rs2229742 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1158 The length of the canonical sequence.
Location on the sequence:

SSGDESSYSNCVPIDLSCKH R TEKSESDQPVSLDNFTQSLL 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                         SSGDESSYSNCVPIDLSCKHRTEKSESDQPVSLDNFTQSLL

Mouse                         SSGDESSYSNCVPIDLSCKHRIEKPEAERPVSLENLTQSLL

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 – 1158	Nuclear receptor-interacting protein 1
Region	410 – 700	Repression domain 2
Region	431 – 472	Required for targeting to small nuclear foci
Modified residue	446 – 446	N6-acetyllysine
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
Nuclear factor RIP140 modulates transcriptional activation by the estrogen receptor.
Cavailles V.; Dauvois S.; L'Horset F.; Lopez G.; Hoare S.; Kushner P.J.; Parker M.G.;
EMBO J. 14:3741-3751(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; INTERACTION WITH ESR1; SUBCELLULAR LOCATION; VARIANT GLY-448; 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.