Variant position: 230 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 IT----ETGYMDQIIEYLYPCLII TPLDCFWEGAKLQSGTAYLLG
Mouse IT----ETGYMDQIIEYLYPCLII TPLDCFWEGAKLQSGTA
Chicken IT----EAGYMDQIIEYLYPCLII TPLDCFWEGAKLQSGTA
Zebrafish II----ENVMIERMIDKLFPCMIV TPLDCFWEGSKLQGGSA
Caenorhabditis elegans SVAADSAASSLGDVIDKIVPCIWI TPIDCFWEGSKALGPHP
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
122 – 436 Extracellular
Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles.
Savino M.; d'Apolito M.; Formica V.; Baorda F.; Mari F.; Renieri A.; Carabba E.; Tarantino E.; Andreucci E.; Belli S.; Lo Muzio L.; Dallapiccola B.; Zelante L.; Savoia A.;
Hum. Mutat. 24:441-441(2004)
Cited for: VARIANTS BCNS PRO-230 AND 505-LEU-ARG-506;
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