Variant position: 246 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 278 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 GNNYKQSLLQHFPDILPLEY GGEEFSMEDICQEWTNFIMKS
Mouse GNNYKSSMLQHFPDILPREY GGKEFSMEDICQEWTNFIMKS
Rat GNNYKSSLLQHFPDILPLEY GGNESSMEDICQEWTNFIMKS
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
1 – 278 Alpha-tocopherol transfer protein
88 – 253 CRAL-TRIO
Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families.
Mariotti C.; Gellera C.; Rimoldi M.; Mineri R.; Uziel G.; Zorzi G.; Pareyson D.; Piccolo G.; Gambi D.; Piacentini S.; Squitieri F.; Capra R.; Castellotti B.; Di Donato S.;
Neurol. Sci. 25:130-137(2004)
Cited for: VARIANT AVED ARG-246;
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