UniProtKB/SwissProt variant VAR

Variant information

Variant position:

144

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 Tyrosine (Y) to Phenylalanine (F) at position 144 (Y144F, p.Tyr144Phe).

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 large size and aromatic.

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 a malignant melanoma cell line.

Any additional useful information about the variant.

Sequence information

Variant position:

144

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

Protein sequence length:

1689

The length of the canonical sequence.

Location on the sequence:

KSYYKPDSPEYKAACKLWDL Y LRTRNEFVQKGEADDEDDDE

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                         KSYYKPDSPEYKAACKLWDLYLRTRNEFVQKGEADDEDDDE

Mouse                         KAYYKPDSPEYKAACKLWDLYLRTRNEFVQKGEADDEDDDE

Pig                           ----------------LW-----------------------

Chicken                       KAYYKPDSPEYKAACKLWELYLRTKNEFVQKGDAEEEDEDE

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 – 1689	Protein polybromo-1
Modified residue	131 – 131	Phosphoserine
Modified residue	134 – 134	Phosphotyrosine
Cross	154 – 154	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Helix	132 – 152

Literature citations

Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.
Varela I.; Tarpey P.; Raine K.; Huang D.; Ong C.K.; Stephens P.; Davies H.; Jones D.; Lin M.L.; Teague J.; Bignell G.; Butler A.; Cho J.; Dalgliesh G.L.; Galappaththige D.; Greenman C.; Hardy C.; Jia M.; Latimer C.; Lau K.W.; Marshall J.; McLaren S.; Menzies A.; Mudie L.; Stebbings L.; Largaespada D.A.; Wessels L.F.A.; Richard S.; Kahnoski R.J.; Anema J.; Tuveson D.A.; Perez-Mancera P.A.; Mustonen V.; Fischer A.; Adams D.J.; Rust A.; Chan-On W.; Subimerb C.; Dykema K.; Furge K.; Campbell P.J.; Teh B.T.; Stratton M.R.; Futreal P.A.;
Nature 469:539-542(2011)
Cited for: FUNCTION AS NEGATIVE REGULATOR OF CELL PROLIFERATION; INVOLVEMENT IN RCC; VARIANTS LEU-49; ALA-56; ILE-57 DEL; GLY-66; GLU-90; PHE-144; ALA-160; CYS-202; LYS-206; GLY-226; VAL-228; PRO-232; THR-233; THR-256; ALA-340; ILE-523; SER-540; ASP-597; GLU-621; ASN-661; GLU-674; CYS-678; CYS-893; SER-895; GLN-922; GLN-925; TYR-1079; SER-1098; GLN-1120; SER-1177; PRO-1204; 1209-MET--GLU-1214 DEL; GLN-1287; GLU-1414; CYS-1503; HIS-1560; ASN-1614 AND CYS-1647;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q86U86: Variant p.Tyr144Phe