UniProtKB/Swiss-Prot Q9Y3I1: Variant p.Arg481Cys

F-box only protein 7
Gene: FBXO7
Feedback?

Variant information Variant position:

481 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 Cysteine (C) at position 481 (R481C, p.Arg481Cys). 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 medium size and polar (C) 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:

Found in two patients with Kufor-Rakeb syndrome also carrying R-877 in ATP13A2. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs148272407 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

ISSLIPGPGETPSQFPPLRP R FDPVGPLPGPNPILPGRGGP 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                         ISSLIPGPGETPSQFPPLRPRFDPVGPLPGPNPILPGRGGP

Mouse                         VTSLIPRPGELPGQFRPLRPRFDPVDPLPGPHSLLPGRAIP

Rat                           VTSLIPRPGEPPSQFRPVRPRFDPVGPLPGSNSLLPGRASP

Bovine                        INSLIPGPGETPSQFPPLRPRFDPVGPLPGPNPILPGRGGP

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 – 522	F-box only protein 7
Region	381 – 522	Important for interaction with CDK6
Motif	481 – 484	RFDP motif

Literature citations
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.
Santoro L.; Breedveld G.J.; Manganelli F.; Iodice R.; Pisciotta C.; Nolano M.; Punzo F.; Quarantelli M.; Pappata S.; Di Fonzo A.; Oostra B.A.; Bonifati V.;
Neurogenetics 12:33-39(2011)
Cited for: VARIANT CYS-481;

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.