UniProtKB/SwissProt variant VAR

Variant information

Variant position:

1255

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 Glycine (G) to Aspartate (D) at position 1255 (G1255D, p.Gly1255Asp).

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 glycine (G) to medium size and acidic (D)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-1

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 rs1999272 [ dbSNP | Ensembl ]

Sequence information

Variant position:

1255

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

1261

The length of the canonical sequence.

Location on the sequence:

VNPMCQRPRLKRMQQFEDLE G EIPQFV

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                         VNPMCQRPRLKRMQQFEDLEGEIPQFV

Mouse                         GTPTCQRPRLKRMQQFEDLEDEIPQFV

Rat                           GTPTCQRPRLKRMQQFEDLEDEIPQFV

Bovine                        VPTACQRPRLKRMQQFEDLEDEIPQFV

Zebrafish                     AKPLYQR-RSRRMQELEHRE---AHFV

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 – 1261	Rho GTPase-activating protein 29
Alternative sequence	394 – 1261	Missing. In isoform 2.

Literature citations

A novel GTPase-activating protein for Rho interacts with a PDZ domain of the protein-tyrosine phosphatase PTPL1.
Saras J.; Franzen P.; Aspenstroem P.; Hellman U.; Gonez L.J.; Heldin C.-H.;
J. Biol. Chem. 272:24333-24338(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); PROTEIN SEQUENCE OF 64-72; 221-228; 349-357; 456-468; 666-678; 943-946; 971-985; 1015-1024; 1069-1079 AND 1212-1224; FUNCTION; TISSUE SPECIFICITY; INTERACTION WITH PTPN13; VARIANT ASP-1255;

Submission
Totoki Y.; Toyoda A.; Takeda T.; Sakaki Y.; Tanaka A.; Yokoyama S.; Ohara O.; Nagase T.; Kikuno R.F.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 10-1261 (ISOFORM 1); VARIANT ASP-1255;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q52LW3: Variant p.Gly1255Asp