Schema for UniProt Variants - UniProt/SwissProt Amino Acid Substitutions
  Database: rn6    Primary Table: spMut Data last updated: 2023-02-28
Big Bed File Download: /gbdb/rn6/uniprot/
Item Count: 3,119
The data is stored in the binary BigBed format.

Format description: Browser extensible data (12 fields) plus information about uniProt mutation
chromchr1Chromosome (or contig, scaffold, etc.)
chromStart191707829Start position in chromosome
chromEnd191707832End position in chromosome
nameK6RName of item
score1000Score from 0-1000
strand++ or -
thickStart191707829Start of where display should be thick (start codon)
thickEnd191707832End of where display should be thick (stop codon)
reserved0Used as itemRgb as of 2004-11-22
blockCount1Number of blocks
blockSizes3Comma separated list of block sizes
chromStarts0Start positions relative to chromStart
statusManually reviewed (Swiss-Prot)Status
varTypeExperimental mutation of amino acidsVariant Type
mutationposition 6, Lys changed to ArgCoding seq. mutation
commentsInterferes with ubiquitination and increases amiloride-sensitive current and the number of active channels; when associated with R-13.Comment
variationIdUniProt variant
uniProtIdP37091UniProt record
pmids9351815Source articles

Sample Rows
chr1191707829191707832K6R1000+1917078291917078320130Manually reviewed (Swiss-Prot)Experimental mutation of amino acidsposition 6, Lys changed to ArgInterferes with ubiquitination and increases amiloride-sensitive current and the number of active channels; when associated with ...P370919351815
chr1191707850191707853K13R1000+1917078501917078530130Manually reviewed (Swiss-Prot)Experimental mutation of amino acidsposition 13, Lys changed to ArgInterferes with ubiquitination and increases amiloride-sensitive current and the number of active channels; when associated with ...P370919351815
chr1191883459191883462P616A1000+1918834591918834620130Manually reviewed (Swiss-Prot)Experimental mutation of amino acidsposition 616, Pro changed to AlaStrong increase in channel activity.P3709012654927
chr1191883465191883468Y618A1000+1918834651918834680130Manually reviewed (Swiss-Prot)Experimental mutation of amino acidsposition 618, Tyr changed to AlaStrong increase in channel activity.P3709012654927
chr1191883474191883477L621A1000+1918834741918834770130Manually reviewed (Swiss-Prot)Experimental mutation of amino acidsposition 621, Leu changed to Ala2-fold increase in channel activity.P3709012654927
chr1192233954192233960ST16AA1000+1922339541922339600160Manually reviewed (Swiss-Prot)Experimental mutation of amino acidsposition 16-18, Ser-Thr changed to Ala-AlaNo effect.P684038327493
chr1192485973192485976T314A1000+1924859731924859760130Manually reviewed (Swiss-Prot)Experimental mutation of amino acidsposition 314, Thr changed to AlaNo effect; when associated with A-323.P684038327493
chr1192486003192486006T324A1000+1924860031924860060130Manually reviewed (Swiss-Prot)Experimental mutation of amino acidsposition 324, Thr changed to AlaNo effect; when associated with A-313.P684038327493
chr1192530287192530290T500V1000+1925302871925302900130Manually reviewed (Swiss-Prot)Experimental mutation of amino acidsposition 500, Thr changed to ValLoss of enzymatic activity.P684037961692
chr1192530287192530290T500S1000+1925302871925302900130Manually reviewed (Swiss-Prot)Experimental mutation of amino acidsposition 500, Thr changed to Ser50% decrease of enzymatic activity.P684037961692

UniProt Variants (spMut) Track Description


This track is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the genome browser database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.

This track shows the genomic positions of natural and artifical amino acid variants in the UniProt/SwissProt database. The data has been curated from scientific publications by the UniProt staff.

Display Conventions and Configuration

Genomic locations of UniProt/SwissProt variants are labeled with the amino acid change at a given position and, if known, the abbreviated disease name. A "?" is used if there is no disease annotated at this location, but the protein is described as being linked to only a single disease in UniProt.

Mouse over a mutation to see the UniProt comments.

Artificially-introduced mutations are colored green and naturally-occurring variants are colored red. For full information about a particular variant, click the "UniProt variant" linkout. The "UniProt record" linkout lists all variants of a particular protein sequence. The "Source articles" linkout lists the articles in PubMed that originally described the variant(s) and were used as evidence by the UniProt curators.


UniProt sequences were aligned to RefSeq sequences first with BLAT, then lifted to genome positions with pslMap. UniProt variants were parsed from the UniProt XML file. The variants were then mapped to the genome through the alignment using the pslMap program. This mapping approach draws heavily on the LS-SNP pipeline by Mark Diekhans. The complete script is part of the kent source tree and is located in src/hg/utils/uniprotMutations.

Data Access

The raw data can be explored interactively with the Table Browser, or the Data Integrator. For automated analysis, the genome annotation is stored in a bigBed file that can be downloaded from the download server. The underlying data file for this track is called Individual regions or the whole genome annotation can be obtained using our tool bigBedToBed which can be compiled from the source code or downloaded as a precompiled binary for your system. Instructions for downloading source code and binaries can be found here. The tool can also be used to obtain only features within a given range, for example:
bigBedToBed -chrom=chr6 -start=0 -end=1000000 stdout
Please refer to our mailing list archives for questions, or our Data Access FAQ for more information.


This track was created by Maximilian Haeussler, with advice from Mark Diekhans and Brian Raney.


UniProt Consortium. Reorganizing the protein space at the Universal Protein Resource (UniProt). Nucleic Acids Res. 2012 Jan;40(Database issue):D71-5. PMID: 22102590; PMC: PMC3245120

Yip YL, Scheib H, Diemand AV, Gattiker A, Famiglietti LM, Gasteiger E, Bairoch A. The Swiss-Prot variant page and the ModSNP database: a resource for sequence and structure information on human protein variants. Hum Mutat. 2004 May;23(5):464-70. PMID: 15108278