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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q7Z7G8: Variant p.Leu2193Arg

Intermembrane lipid transfer protein VPS13B
Gene: VPS13B
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Variant information Variant position: help 2193 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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 Leucine (L) to Arginine (R) at position 2193 (L2193R, p.Leu2193Arg). 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 (L) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In COH1; uncertain significance. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 2193 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 4022 The length of the canonical sequence.
Location on the sequence: help QKVPGIILGSSFLLSINDFL L KTSLKERSRILIGPCCATAN 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                         QKVPGIILG------------------------------------------------SSFLLSINDFLLKTSLKERSRILIGP-------CCATAN

Mouse                         QKVPGASLG--------------------------------

Slime mold                    RTPPNPPSLPSWNGVRFVYSPLEHSEQIKVSENQFSSPKGF

Fission yeast                 -----------------------------------------

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 – 4022 Intermembrane lipid transfer protein VPS13B
Alternative sequence 416 – 4022 Missing. In isoform 5.
Alternative sequence 864 – 4022 Missing. In isoform 4.
Alternative sequence 1428 – 4022 Missing. In isoform 3.



Literature citations
Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.
Kolehmainen J.; Black G.C.M.; Saarinen A.; Chandler K.; Clayton-Smith J.; Traeskelin A.-L.; Perveen R.; Kivitie-Kallio S.; Norio R.; Warburg M.; Fryns J.-P.; de la Chapelle A.; Lehesjoki A.-E.;
Am. J. Hum. Genet. 72:1359-1369(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4 AND 5); TISSUE SPECIFICITY; VARIANT 413-TYR--LEU-415 DEL (ISOFORM 5); VARIANT COH1 ARG-2193;
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.