Variant position: 147 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 541 The length of the canonical sequence.
Location on the sequence:
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 GIHPIRIADGYEQAARVAIE HLDKISDSVLVDIKD--TEPLIQ
Mouse GIHPIRIADGYEQAARIAIQ HLDKISDKVLVDINN--PEPL
Rat GIHPIRIADGYEQAARIAIQ HLDKISDNVLVDINN--PEPL
Caenorhabditis elegans GIHPIKIADGFDLACKKALE TLDSISDK--FPVEN--RERL
Slime mold GIHPCRIYEGYETACKIATE HLKTISDSIEFSKDN--IEPL
Baker's yeast GIHPIKIANGFDEAAKLAIS KLEETCDDISASNDELFRDFL
Fission yeast GIHPIRIADGYEKACQVAVK HLDAISDVVDFSPEN--TTNL
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.
Type Positions Description
2 – 541 T-complex protein 1 subunit epsilon
Mutation in the epsilon subunit of the cytosolic chaperonin-containing T-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia.
Bouhouche A.; Benomar A.; Bouslam N.; Chkili T.; Yahyaoui M.;
J. Med. Genet. 43:441-443(2006)
Cited for: VARIANT HSNSP ARG-147;
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