Variant position: 245 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 294 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 PPHLLSCWLPPFPSGPPIIP PPPPICPDSLDDADA----LGSMLI
Mouse PPPFLPCWMPPFPSGPPIIP PPPPISPDCLDDTDA----LG
Rat P-PFLPCWMPPFPSGPPIIP PPPPISPDCLDDTDA----LG
Bovine P-HFLSRWLPPFPAGPPMIP PPPPICPDSLDDADA----LG
Cat P-HFLSCWLPPFPSGPPIIP PPPPICPDSLDDADA----LG
Drosophila -------------SGGLVMP PMPPVPPMIVGQGDGAEQDFV
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 – 294 Survival motor neuron protein
240 – 267 P2 (binding site for SNRPB)
244 – 248 Poly-Pro
Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.
Rochette C.F.; Surh L.C.; Ray P.N.; McAndrew P.E.; Prior T.W.; Burghes A.H.M.; Vanasse M.; Simard L.R.;
Cited for: VARIANT SMA3 LEU-245; VARIANT SMA1 CYS-272;
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