Variant position: 1303 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1497 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 STDASHSRGSSSSSHSSSVR RGSSYSSSMSTGGGGAGSLGA
Mouse ----GHLRENYNWSSNSSAR RGTSYSSSTGTGGTNGGSLGE
Bovine STDSSYSRSGSSSSFS---- RDTSYSSSMGIGGASGGSLGE
Chicken --DSGLVAGSMSSLYHDSLA SERLHGGSIGAEGSHGGSLGA
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 – 1497 Collagen alpha-1(XVII) chain
524 – 1497 120 kDa linear IgA disease antigen
489 – 1497 Extracellular
567 – 1482 Triple-helical region
Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa.
Schumann H.; Hammami-Hauasli N.; Pulkkinen L.; Mauviel A.; Kuester W.; Luethi U.; Owaribe K.; Uitto J.; Bruckner-Tuderman L.;
Am. J. Hum. Genet. 60:1344-1353(1997)
Cited for: VARIANT GABEB GLN-1303;
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