Variant position: 1438 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1447 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 VRCERRDSKVEVIELQDVEC EERPRGSSSN
Mouse VRCERRDSKVEVIELQDVEC EERPWGSSSN
Chicken VRCERRNSKVEVIELQDVEC EERTAGKISE
Zebrafish -------------------- ----------
Caenorhabditis elegans -------------------- ----------
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 – 1447 Protein patched homolog 1
1176 – 1447 Cytoplasmic
1426 – 1426 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome.
Lench N.J.; Telford E.A.R.; High A.S.; Markham A.F.; Wicking C.; Wainwright B.J.;
Hum. Genet. 100:497-502(1997)
Cited for: VARIANT NBCCS ASP-1438;
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