Variant position: 132 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 579 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 PSHPQLFSIVRQACVRSLSC EVCPGREGPIFFGDEQHGFVF
Mouse PNHPQLFSIVRQACVRSLSC EVCPGREGPIFFGDEQHGFVF
Rat PNHPQLFSIVRQACVRSLSC EVCPGREGPIFFGDEQHGFVF
Bovine PNHPQLFSIVRQACVRSLSC EVCPGREGPIFFGDEQHGFVF
Xenopus tropicalis PNHPQLFSIVRQACVRSLSC EVCPGREGPIFFGDEQHGFVF
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 – 579 Folliculin
86 – 242 uDENN FLCN/SMCR8-type
118 – 118 F -> D. Does not assemble into a stable folliculin complex (LFC), preventing localization to the lysosomal membrane upon amino acid starvation.
Novel mutations in the folliculin gene associated with spontaneous pneumothorax.
Frohlich B.A.; Zeitz C.; Matyas G.; Alkadhi H.; Tuor C.; Berger W.; Russi E.W.;
Eur. Respir. J. 32:1316-1320(2008)
Cited for: VARIANT PSP LYS-132;
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