Variant position: 19 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1955 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 MFRQFYLWTCLASGIILG SLFEICLGQYDD-----DCKLARGGP
Mouse MFLQFAVWKCLPHGILIA SLLVVSWGQYDDDWQYEDCKL
Chicken MLQQFCLWKWLAVGIAVA TILASSLAQNDE-----DCKL
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 – 26
1 – 1118 Missing. In isoform 2.
Protocadherin 15 (PCDH15): a new secreted isoform and a potential marker for NK/T cell lymphomas.
Rouget-Quermalet V.; Giustiniani J.; Marie-Cardine A.; Beaud G.; Besnard F.; Loyaux D.; Ferrara P.; Leroy K.; Shimizu N.; Gaulard P.; Bensussan A.; Schmitt C.;
Cited for: IDENTIFICATION OF ISOFORMS 1 AND 3; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANT ALA-19;
Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.
Jaijo T.; Oshima A.; Aller E.; Carney C.; Usami S.; Millan J.M.; Kimberling W.J.;
Mol. Vis. 18:1719-1726(2012)
Cited for: VARIANTS USH1F GLN-134 AND ALA-1161 (ISOFORM 4); VARIANTS ALA-19; SER-174; SER-380; ALA-435; GLN-929 AND SER-1273;
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