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UniProtKB/Swiss-Prot Q9ULP9: Variant p.Gly501Arg

TBC1 domain family member 24
Gene: TBC1D24
Variant information

Variant position:  501
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 Glycine (G) to Arginine (R) at position 501 (G501R, p.Gly501Arg).
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 glycine (G) to large size and basic (R)
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 EPRPDC; results in synaptic vesicle trafficking defects when expressed in a heterologous system; does not affect localization to presynapse when expressed in a heterologous system.
Any additional useful information about the variant.



Sequence information

Variant position:  501
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  559
The length of the canonical sequence.

Location on the sequence:   PFLAARHFNLPSKTESMFMA  G GSDCLIVGGGGGQALYIDGD
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                         PFLAARHFNLPSKTESMFMAGGSDCLIVGGGGGQALYIDGD

Mouse                         PFLAARHFNLPSKTESMFMAGGNDCLIIGGGGGQALYVDGD

Bovine                        PFLATRHFNLPSKTESLFMAGGSDCLIIG-------HVAGD

Xenopus laevis                PFLATRHFNLPSKTASMFMAGSIDCIIIGGGDGQALYLDPD

Xenopus tropicalis            PFLATRHFNLPSKSASMFMAGSTDCIIIGGGDGQALYFDSD

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.

TypePositionsDescription
Chain 1 – 559 TBC1 domain family member 24
Domain 343 – 554 TLDc


Literature citations

TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.
Luethy K.; Mei D.; Fischer B.; De Fusco M.; Swerts J.; Paesmans J.; Parrini E.; Lubarr N.; Meijer I.A.; Mackenzie K.M.; Lee W.T.; Cittaro D.; Aridon P.; Schoovaerts N.; Versees W.; Verstreken P.; Casari G.; Guerrini R.;
Brain 142:2319-2335(2019)
Cited for: VARIANTS EPRPDC 81-ILE--LYS-84 DEL; MET-182; HIS-360; VAL-500; ARG-501 AND ARG-511; INVOLVEMENT IN EPRPDC; FUNCTION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT EPRPDC ARG-501;

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.