UniProtKB/SwissProt variant VAR

Variant information

Variant position:

306

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 Phenylalanine (F) at position 306 (S306F, p.Ser306Phe).

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 large size and aromatic (F)

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

BLOSUM score:

-2

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 hepatocellular carcinoma sample; somatic mutation.

Any additional useful information about the variant.

Sequence information

Variant position:

306

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

Protein sequence length:

367

The length of the canonical sequence.

Location on the sequence:

SLGDGCSFPTCLVNQDPEQA S TPAGLNSTAKNLENHQFPAK

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                         SLGDGCSFPTCLVNQDPEQASTPAGLNSTAKNL-ENHQFPAK

Mouse                         SQGDGCSFPTCLVNQDPEQPSTPAGLNSTVKNP-ENHQFPA

Rat                           SQGDGCSFPTCLVNQDPEQPSTPAGLNSTAKNP-ENHQFPA

Zebrafish                     SLGDGCSFPTCLVNPDPEQPSIPPGRNPSVKSAGESHPFPP

Slime mold                    --------------------TIPNNLKITSK---KGDIFIV

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 – 367	Palmitoyltransferase ZDHHC2
Topological domain	230 – 367	Cytoplasmic
Region	299 – 367	Mediates localization to plasma membrane and recycling endosomes

Literature citations

Isolation of a novel gene on 8p21.3-22 whose expression is reduced significantly in human colorectal cancers with liver metastasis.
Oyama T.; Miyoshi Y.; Koyama K.; Nakagawa H.; Yamori T.; Ito T.; Matsuda H.; Arakawa H.; Nakamura Y.;
Genes Chromosomes Cancer 29:9-15(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; TISSUE SPECIFICITY; VARIANTS PHE-306 AND ILE-356;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UIJ5: Variant p.Ser306Phe