Variant position: 559 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 677 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 AHQNVAQMPLVEAKLRFIQA WQSLPEFGLTYYLVRFKGSKK
Mouse AHHNVAQMPLVEAKLQFIQA WQSLPEFGLTYYLVRFKGSKK
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 – 677 Fermitin family homolog 1
96 – 653 FERM
496 – 677 Missing. In isoform 4.
555 – 677 Missing. In isoform 2.
Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.
Has C.; Castiglia D.; del Rio M.; Diez M.G.; Piccinni E.; Kiritsi D.; Kohlhase J.; Itin P.; Martin L.; Fischer J.; Zambruno G.; Bruckner-Tuderman L.;
Hum. Mutat. 32:1204-1212(2011)
Cited for: VARIANTS KNDLRS ARG-100 DEL; PRO-400; ARG-559 AND ILE-623 DEL;
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