Variant position: 888 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1736 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 GPHGPPGERGLPGPQGPNGF PGPKGPLGPPGKDGLPGHPGQ
Mouse GPHGPPGERGLPGPQGPNGF PGPKGPPGPAGKDGLPGHPGQ
Bovine GPHGPPGERGLPGPQGPNGF PGPKGPPGPPGKDGLPGHPGQ
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
28 – 1736 Collagen alpha-2(XI) chain
863 – 899 Collagen-like 5
487 – 1500 Triple-helical region
291 – 1736 Missing. In isoform 9.
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
Chakchouk I.; Grati M.; Bademci G.; Bensaid M.; Ma Q.; Chakroun A.; Foster J. II; Yan D.; Duman D.; Diaz-Horta O.; Ghorbel A.; Mittal R.; Farooq A.; Tekin M.; Masmoudi S.; Liu X.Z.;
Mol. Genet. Genomics 290:1327-1334(2015)
Cited for: VARIANTS DFNB53 SER-37 AND THR-888;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.