UniProtKB/Swiss-Prot Q14160: Variant p.Pro422Leu

Protein scribble homolog
Gene: SCRIB
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Variant information Variant position:

422 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 Proline (P) to Leucine (L) at position 422 (P422L, p.Pro422Leu). 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
Other resources:

Links to websites of interest for the variant.

Variant rs6558394 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1655 The length of the canonical sequence.
Location on the sequence:

DDARTGEKVLTCYLLPQQPP P SLEDAGQQGSLSETWSDAPP 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                         DDARTGEKVLTCYLLPQQPPPSLEDAGQQGSLSETW-SDAPP

Mouse                         DDAQTGEKVLTCYLLPQQPLPSLEDAGQQSSPSESC-SDAP

Zebrafish                     DDEQTGEKVLTCYLLPQQPSSSLENL-LERSVDEAWPTDTN

Drosophila                    TDAETGEQVLSCYLLPQQEYQPITPARDLESDSEPF-EERE

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 – 1655	Protein scribble homolog
Region	1 – 818	Sufficient for targeting to adherens junction and to inhibit cell proliferation
Region	417 – 440	Disordered

Literature citations
The tumor suppressor Scrib interacts with the zyxin-related protein LPP, which shuttles between cell adhesion sites and the nucleus.
Petit M.M.R.; Meulemans S.M.P.; Alen P.; Ayoubi T.A.Y.; Jansen E.; Van de Ven W.J.M.;
BMC Cell Biol. 6:1-1(2005)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); INTERACTION WITH LPP; SUBCELLULAR LOCATION; MUTAGENESIS OF 738-LEU--GLY-739; 872-LEU--GLY-873; 1014-LEU--GLY-1015 AND 1111-LEU--GLY-1112; VARIANT LEU-422; Junctional recruitment of mammalian Scribble relies on E-cadherin engagement.
Navarro C.; Nola S.; Audebert S.; Santoni M.-J.; Arsanto J.-P.; Ginestier C.; Marchetto S.; Jacquemier J.; Isnardon D.; Le Bivic A.; Birnbaum D.; Borg J.-P.;
Oncogene 24:4330-4339(2005)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT LEU-422; SUBCELLULAR LOCATION; MUTAGENESIS OF PRO-305; TISSUE SPECIFICITY; The human Scrib N1 variant encoded by the SCRIB gene contains 13 leucine-rich repeats and 4 PDZ domains.
Petit M.M.R.; Alen P.; Meulemans S.M.P.; Van de Wouwer E.; Ayoubi T.A.Y.; Van de Ven W.J.M.; Jansen E.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANT LEU-422; Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of cDNA clones from human cell line KG-1.
Nagase T.; Seki N.; Tanaka A.; Ishikawa K.; Nomura N.;
DNA Res. 2:167-174(1995)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT LEU-422;

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.