Variant position: 111 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1754 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 QD--------TP-------TSAESPDAPEENIAGV GAEILNVAKGIRSFVQLWNDT
Mouse QKAGQGGSPATPAVPIPLVAPAASPDMKEENVAGV GAKILN
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
24 – 1754 Collagen alpha-1(XVIII) chain
129 – 129 N-linked (GlcNAc...) asparagine
1 – 415 Missing. In isoform 3.
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin.
Menzel O.; Bekkeheien R.C.J.; Reymond A.; Fukai N.; Boye E.; Kosztolanyi G.; Aftimos S.; Deutsch S.; Scott H.S.; Olsen B.R.; Antonarakis S.E.; Guipponi M.;
Hum. Mutat. 23:77-84(2004)
Cited for: VARIANTS LEU-49; ARG-111; ILE-1076 AND ARG-1121; CHARACTERIZATION OF VARIANT ASN-1675;
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