UniProtKB/SwissProt variant VAR

Variant information

Variant position:

893

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

Type of variant:

LP/P [Disclaimer]

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 Phenylalanine (F) to Leucine (L) at position 893 (F893L, p.Phe893Leu).

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 aromatic (F) to medium size and hydrophobic (L)

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

BLOSUM score:

0

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 HSCR1; sporadic form.

Any additional useful information about the variant.

Sequence information

Variant position:

893

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

Protein sequence length:

1114

The length of the canonical sequence.

Location on the sequence:

RDLAARNILVAEGRKMKISD F GLSRDVYEEDSYVKRSQGRI

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                         RDLAARNILVAEGRKMKISDFGLSRDVYEEDSYVKRSQGRI

Mouse                         RDLAARNILVAEGRKMKISDFGLSRDVYEEDSYVKKSKGRI

Rat                           RDLAARNILVAEGRKMKISDFGLSRDVYEEDSYVKKSKGRI

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	29 – 1114	Proto-oncogene tyrosine-protein kinase receptor Ret
Chain	708 – 1017	Soluble RET kinase fragment
Topological domain	658 – 1114	Cytoplasmic
Domain	724 – 1016	Protein kinase
Active site	874 – 874	Proton acceptor
Binding site	892 – 892	Inhibitor
Modified residue	900 – 900	Phosphotyrosine; by autocatalysis
Modified residue	905 – 905	Phosphotyrosine; by autocatalysis
Mutagenesis	708 – 1114	Missing. Loss of induced cell death, but increased cell aggregation.
Helix	893 – 895

Literature citations

No reference for the current variant in UniProtKB/Swiss-Prot.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P07949: Variant p.Phe893Leu