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UniProtKB/Swiss-Prot Q9HC21: Variant p.Gly125Ser

Mitochondrial thiamine pyrophosphate carrier
Gene: SLC25A19
Variant information

Variant position:  125
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 Glycine (G) to Serine (S) at position 125 (G125S, p.Gly125Ser).
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 small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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:  Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type (THMD4) [MIM:613710]: A disease characterized by recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy. {ECO:0000269|PubMed:19798730}. 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 THMD4; affects function as shown by complementation studies in yeast.
Any additional useful information about the variant.

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



Sequence information

Variant position:  125
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  320
The length of the canonical sequence.

Location on the sequence:   ELVHRGSVYDAREFSVHFVC  G GLAACMATLTVHPVDVLRTR
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                         ELV-------HRGSVYDAREF----SVHFVCGGLAACMATLTVHPVDVLRTR

Mouse                         ELL-------YQANLYQTHQF----SAHFVCGGLSAGTATL

Bovine                        ELV-------HRASVRDARDF----SVHFLCGGLSACVATL

Slime mold                    GILDPEYRKHQQRTDKDKPNYKPSSSITMIGGASAGILSTI

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 – 320 Mitochondrial thiamine pyrophosphate carrier
Transmembrane 122 – 142 Helical; Name=3
Repeat 116 – 202 Solcar 2
Alternative sequence 97 – 153 Missing. In isoform 2.


Literature citations

SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis.
Spiegel R.; Shaag A.; Edvardson S.; Mandel H.; Stepensky P.; Shalev S.A.; Horovitz Y.; Pines O.; Elpeleg O.;
Ann. Neurol. 66:419-424(2009)
Cited for: VARIANT THMD4 SER-125; CHARACTERIZATION OF VARIANT THMD4 SER-125;

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.