Variant position: 119 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 526 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 WQTMGFSE-QGRQRLHPEEAL YLLECGSIHLFH-------------QDLPLSIQE
Mouse WQTMGYSE-EGRQRLHPEEAL YLLECGSIQLFY--------
Baker's yeast MQTMGRADSTGELWLDFHEFV YLAERGTILPYYRLEAGSNK
Fission yeast FKTMGTADSQNRMWLLPEETL YLVERGSMECWS--------
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 – 526 tRNA-splicing endonuclease subunit Sen54
Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2.
Battini R.; D'Arrigo S.; Cassandrini D.; Guzzetta A.; Fiorillo C.; Pantaleoni C.; Romano A.; Alfei E.; Cioni G.; Santorelli F.M.;
J. Child Neurol. 29:520-525(2014)
Cited for: VARIANTS PCH2A ASP-119 AND SER-307;
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