Variant position: 60 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 605 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 ACPAACVCSYDDDADELSVF CSSRNLTRLPDGVPGGTQALW
Mouse QCPVTCTCSYDDYTDELSVF CSSRNLTQLPDGIPVSTRALW
Rat QCPVACTCSHDDYTDELSVF CSSKNLTHLPDDIPVSTRALW
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
28 – 605 Insulin-like growth factor-binding protein complex acid labile subunit
32 – 74 LRRNT
64 – 64 N-linked (GlcNAc...) asparagine
Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins.
Fofanova-Gambetti O.V.; Hwa V.; Kirsch S.; Pihoker C.; Chiu H.K.; Hogler W.; Cohen L.E.; Jacobsen C.; Derr M.A.; Rosenfeld R.G.;
Horm. Res. 71:100-110(2009)
Cited for: VARIANTS ACLSD SER-60; PHE-244 AND LEU-GLU-LEU-439 INS;
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