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UniProtKB/Swiss-Prot Q52LW3: Variant p.Ser552Cys

Rho GTPase-activating protein 29
Gene: ARHGAP29
Variant information

Variant position:  552
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  US
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 Serine (S) to Cysteine (C) at position 552 (S552C, p.Ser552Cys).
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 small size and polar (S) to medium size and polar (C)
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

Variant description:  In a breast cancer sample; somatic mutation.
Any additional useful information about the variant.



Sequence information

Variant position:  552
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:   SWTFGMFSDSESTGGSSESR  S LDSESISPGDFHRKLPRTPS
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                         SWTFG------MFSDSESTGGSSESRSLDSESISPGDFHRKLPRTPS

Mouse                         SWKFG------MFSDSESTGGSSESRSLDSESISPGDFHRK

Rat                           SWKFG------MFSDSESTGGSSESRSLDSESISPGDFHRK

Bovine                        SWTFG------MFSDSESTGGSSESRSLDSESISPGDFHRK

Zebrafish                     AWSSGSAGGGGMCSDSESAGGSSESRSMDSPTASPGDFKRR

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.

TypePositionsDescription
Chain 1 – 1261 Rho GTPase-activating protein 29
Region 541 – 600 Disordered
Compositional bias 541 – 557 Polar residues
Modified residue 552 – 552 Phosphoserine
Alternative sequence 394 – 1261 Missing. In isoform 2.


Literature citations

The consensus coding sequences of human breast and colorectal cancers.
Sjoeblom T.; Jones S.; Wood L.D.; Parsons D.W.; Lin J.; Barber T.D.; Mandelker D.; Leary R.J.; Ptak J.; Silliman N.; Szabo S.; Buckhaults P.; Farrell C.; Meeh P.; Markowitz S.D.; Willis J.; Dawson D.; Willson J.K.V.; Gazdar A.F.; Hartigan J.; Wu L.; Liu C.; Parmigiani G.; Park B.H.; Bachman K.E.; Papadopoulos N.; Vogelstein B.; Kinzler K.W.; Velculescu V.E.;
Science 314:268-274(2006)
Cited for: VARIANT [LARGE SCALE ANALYSIS] CYS-552;

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.