Variant position: 229 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1838 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 TRILDEEVFEGDIQQLLFVS DHRAAYDYCEHYSPDCDTAVP
Mouse SRILDDEIFEGDIQQLLFVS DNRAAYDYCEHYSPDCDTAVP
Rat SRILDDEIFEGDIQQLLFVS DHRAAYDYCEHYSPDCDTAVP
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
38 – 1605 Collagen alpha-1(V) chain
72 – 244 Laminin G-like
234 – 234 Sulfotyrosine
236 – 236 Sulfotyrosine
240 – 240 Sulfotyrosine
Mutations in the COL5A1 coding sequence are not common in patients with spontaneous cervical artery dissections.
Grond-Ginsbach C.; Weber R.; Haas J.; Orberk E.; Kunz S.; Busse O.; Hausser I.; Brandt T.; Wildemann B.;
Cited for: VARIANT ASN-229; ASSOCIATION WITH INCREASED RISK OF CERVICAL ARTERY DISSECTION;
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