Variant position: 155 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 703 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 GPPGQPGLRGEPGIRGDQGL RGPPGPPGLPGPSGITIPGKP
Mouse GPPGQPGLRGEPGIRGDQGL RGPPGPPGLPGPSGITVPGKP
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
29 – 703 Collagen alpha-2(VIII) chain
70 – 544 Disordered
77 – 536 Triple-helical region
Missense mutations in COL8A2, the gene encoding the alpha-2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.
Biswas S.; Munier F.L.; Yardley J.; Hart-Holden N.; Perveen R.; Cousin P.; Sutphin J.E.; Noble B.; Batterbury M.; Kielty C.; Hackett A.; Bonshek R.; Ridgway A.; McLeod D.; Sheffield V.C.; Stone E.M.; Schorderet D.F.; Black G.C.M.;
Hum. Mol. Genet. 10:2415-2423(2001)
Cited for: VARIANTS FECD1 GLN-304; ARG-357; HIS-434; LYS-455 AND LEU-575; VARIANT PPCD2 LYS-455; VARIANTS ARG-3; GLN-155 AND ILE-645;
Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy.
Kobayashi A.; Fujiki K.; Murakami A.; Kato T.; Chen L.-Z.; Onoe H.; Nakayasu K.; Sakurai M.; Takahashi M.; Sugiyama K.; Kanai A.;
Jpn. J. Ophthalmol. 48:195-198(2004)
Cited for: VARIANTS GLN-155 AND MET-502;
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