Variant position: 1516 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1806 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 PLGPPGPPGLPGPQGPKGNK GSTGPAGQKGDSGLPGPPGSP
Mouse PIGPPGPPGLPGPAGPKGNK GSSGPTGQKGDSGMPGPPGPP
Rat PIGPPGPPGLPGPAGPKGNK GSSGPTGQKGDSGMPGPPGPP
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.
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
Annunen S.; Koerkkoe J.; Czarny M.; Warman M.L.; Brunner H.G.; Kaeaeriaeinen H.; Mulliken J.B.; Tranebjaerg L.; Brooks D.G.; Cox G.F.; Cruysberg J.R.; Curtis M.A.; Davenport S.L.H.; Friedrich C.A.; Kaitila I.; Krawczynski M.R.; Latos-Bielenska A.; Mukai S.; Olsen B.R.; Shinno N.; Somer M.; Vikkula M.; Zlotogora J.; Prockop D.J.; Ala-Kokko L.;
Am. J. Hum. Genet. 65:974-983(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; ALTERNATIVE SPLICING (ISOFORMS A; B AND C); VARIANTS STL2/MARSHALL SYNDROME ARG-676; 921-GLN--PRO-926 DEL; 1313-PHE--GLY-1315 DEL; LEU-1323; VAL-1516 AND PRO-1535;
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
Richards A.J.; McNinch A.; Martin H.; Oakhill K.; Rai H.; Waller S.; Treacy B.; Whittaker J.; Meredith S.; Poulson A.; Snead M.P.;
Hum. Mutat. 31:E1461-E1471(2010)
Cited for: VARIANTS STL2 VAL-565; ARG-1027; 1110-VAL--PRO-1118 DEL; ASP-1513 AND VAL-1516;
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