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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P0DI81: Variant p.Val130Asp

Trafficking protein particle complex subunit 2
Variant information Variant position: help 130 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Valine (V) to Aspartate (D) at position 130 (V130D, p.Val130Asp). 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: help Change from medium size and hydrophobic (V) to medium size and acidic (D) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In SEDT; loss of interaction with ENO1, PITX1 and SF1. Any additional useful information about the variant.

Sequence information Variant position: help 130 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 140 The length of the canonical sequence.
Location on the sequence: help SMNPFYEPNSPIRSSAFDRK V QFLGKKHLLS 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: help 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.
Chain 1 – 140 Trafficking protein particle complex subunit 2
Modified residue 119 – 119 Phosphoserine
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; The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.
Gedeon A.K.; Tiller G.E.; Le Merrer M.; Heuertz S.; Tranebjaerg L.; Chitayat D.; Robertson S.; Glass I.A.; Savarirayan R.; Cole W.G.; Rimoin D.L.; Kousseff B.G.; Ohashi H.; Zabel B.; Munnich A.; Gecz J.; Mulley J.C.;
Am. J. Hum. Genet. 68:1386-1397(2001)
Cited for: VARIANTS SEDT TYR-47; LEU-73 AND ASP-130;
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.