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UniProtKB/Swiss-Prot Q9ULP9: Variant p.Phe229Ser

TBC1 domain family member 24
Gene: TBC1D24
Chromosomal location: 16p13.3
Variant information

Variant position:  229
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Phenylalanine (F) to Serine (S) at position 229 (F229S, p.Phe229Ser).
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

Involvement in disease:  Epileptic encephalopathy, early infantile, 16 (EIEE16) [MIM:615338]: A severe autosomal recessive neurologic disorder characterized by onset of seizures in the first weeks or months of life. Seizures can be of various types, are unresponsive to medication, last for long periods of time, and occur frequently. Affected infants show psychomotor regression or lack of psychomotor development, as well as other neurologic features such as extrapyramidal signs and hypotonia. Most die in childhood. {ECO:0000269|PubMed:23526554, ECO:0000269|PubMed:27541164}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In EIEE16; loss of function mutation; impairs the interaction with ARF6; overexpression of the mutant protein in primary cortical neurons abolishes the ability to increase neurite length and arborization.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  229
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:   YADWQRWLFGELPLCYFARV  F DVFLVEGYKVLYRVALAILK
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                         YADWQRWLFGELPLCYFARVFDVFLVEGYKVLYRVALAILK

Mouse                         YSDWQRWLFGELPLNYFARVFDVFLVEGYKVLYRVALAILK

Bovine                        YADWQRWLFGELPLSYFARVFDVFLVEGYKVLYRVALAILK

Xenopus laevis                YSDWQRWIFGELPFAYITRVFDVFLVEGYKVLFRVALALLK

Xenopus tropicalis            YSDWQRWIFGELPFAYITRVFDVFLVEGYKVLFRVALALLK

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 47 – 262 Rab-GAP TBC
Binding site 238 – 238 Phosphatidylinositol
Binding site 242 – 242 Phosphatidylinositol


Literature citations

Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.
Milh M.; Falace A.; Villeneuve N.; Vanni N.; Cacciagli P.; Assereto S.; Nabbout R.; Benfenati F.; Zara F.; Chabrol B.; Villard L.; Fassio A.;
Hum. Mutat. 34:869-872(2013)
Cited for: VARIANT EIEE16 SER-229; CHARACTERIZATION OF VARIANT EIEE16 SER-229;

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.