UniProtKB/SwissProt variant VAR

Variant information

Variant position:

83

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 Serine (S) at position 83 (F83S, p.Phe83Ser).

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 small size and polar (S)

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 SEDT; mild form; loss of interaction with ENO1, PITX1 and SF1.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs104894948 [ dbSNP | Ensembl ]

Sequence information

Variant position:

83

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

Protein sequence length:

140

The length of the canonical sequence.

Location on the sequence:

TVDKFNEWFVSAFVTAGHMR F IMLHDIRQEDGIKNFFTDVY

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.

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 – 140	Trafficking protein particle complex subunit 2
Alternative sequence	80 – 80	H -> HILTFLVKVTN. In isoform 2.
Alternative sequence	81 – 140	Missing. In isoform 2.

Literature citations

SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1.
Jeyabalan J.; Nesbit M.A.; Galvanovskis J.; Callaghan R.; Rorsman P.; Thakker R.V.;
PLoS ONE 5:E10646-E10646(2010)
Cited for: SELF-ASSOCIATION; INTERACTION WITH ENO1; PITX1 AND SF1; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS SEDL TYR-47; LEU-73; SER-83 AND ASP-130;

A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree.
Grunebaum E.; Arpaia E.; MacKenzie J.J.; Fitzpatrick J.; Ray P.N.; Roifman C.M.;
J. Med. Genet. 38:409-411(2001)
Cited for: VARIANT SEDT SER-83;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P0DI81: Variant p.Phe83Ser