Variant position: 1323 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 GPKGNPGPVGFPGDPGPPGE PGPAGQDGVGGDKGEDGDPGQ
Mouse GPKGNPGPVGFPGDPGPPGE PGPAGQDGVGGDKGEDGDPGQ
Rat GPKGNPGPVGFPGDPGPPGE PGPAGQDGVGGDKGEDGDPGQ
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
512 – 1563 Collagen alpha-1(XI) chain
529 – 1542 Triple-helical region
Pro-alpha 1(XI) collagen. Structure of the amino-terminal propeptide and expression of the gene in tumor cell lines.
Yoshioka H.; Ramirez F.;
J. Biol. Chem. 265:6423-6426(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A); VARIANTS LEU-1323 AND PRO-1535;
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;
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4); VARIANTS LEU-1323 AND PRO-1535;
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