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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O60784: Variant p.Gly307Asp

Target of Myb1 membrane trafficking protein
Gene: TOM1
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Variant information Variant position: help 307 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 Glycine (G) to Aspartate (D) at position 307 (G307D, p.Gly307Asp). 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 glycine (G) to medium size and acidic (D) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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 IMD85; decreases interaction with TOLLIP and UBC. Any additional useful information about the variant.


Sequence information Variant position: help 307 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 492 The length of the canonical sequence.
Location on the sequence: help VNDNLNNVFLRHERFERFRT G QTTKAPSEAEPAADLIDMGP 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         VNDNLNNVFLRH-----------ERFERF----------------------------------RTG-----------------------------------QTTKAP---------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------SEAEPAADLI------------------------------------------------DMGP

Mouse                         INDNLNNVFLRH-----------ERFERF------------

Chicken                       INDNLNNVFLRH-----------ERFERV------------

Slime mold                    LNDEINNALNDHEACI-------KRRRAF------------

Baker's yeast                 ILEEKAHVVMRSPSQFIDVLCETARFHEFDDQGALVDYSLK
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.
TypePositionsDescription
Chain 1 – 492 Target of Myb1 membrane trafficking protein
Region 307 – 336 Disordered
Mutagenesis 289 – 289 D -> GR. Reduced interaction with UBC/ubiquitin.



Literature citations
Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease.
Keskitalo S.; Haapaniemi E.M.; Glumoff V.; Liu X.; Lehtinen V.; Fogarty C.; Rajala H.; Chiang S.C.; Mustjoki S.; Kovanen P.; Lohi J.; Bryceson Y.T.; Seppaenen M.; Kere J.; Heiskanen K.; Varjosalo M.;
NPJ Genom. Med. 4:14-14(2019)
Cited for: INVOLVEMENT IN IMD85; VARIANT IMD85 ASP-307; CHARACTERIZATION OF VARIANT IMD85 ASP-307; INTERACTION WITH TOLLIP; UBC AND LRBA; SUBCELLULAR LOCATION;
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.