Variant position: 391 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 522 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 KITSLHREVEKVKLDQKRLD QELDFILSQQKELEDLLSPLE
Mouse KITSLHREVEKVKLDQKRLD QELDFILSQQKELEDLLSPLE
Rat KITSLHREVEKVKLDQKRLD QELDFILSQQKELEDLLSPLE
Drosophila KIVELNDAVKKVKTDQQVLD QELEFIATQQKELEDSLGPLE
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 – 522 Nuclear pore glycoprotein p62
328 – 458 Required for centrosome localization
328 – 458
408 – 408 Phosphoserine
373 – 373 O-linked (GlcNAc) threonine
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.
Basel-Vanagaite L.; Muncher L.; Straussberg R.; Pasmanik-Chor M.; Yahav M.; Rainshtein L.; Walsh C.A.; Magal N.; Taub E.; Drasinover V.; Shalev H.; Attia R.; Rechavi G.; Simon A.J.; Shohat M.;
Ann. Neurol. 60:214-222(2006)
Cited for: INVOLVEMENT IN SNDI; VARIANT SNDI PRO-391;
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