Variant position: 1391 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1464 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 KNSVAYMDQQTGNLKKALLL QGSNEIEIRAEGNSRFTYSVT
Mouse KNSVAYMDQQTGNLKKALLL QGSNEIELRGEGNSRFTYSTL
Rat KNSVAYMDQQTGNLKKSLLL QGSNEIELRGEGNSRFTYSTL
Bovine KNSVAYMDQQTGNLKKALLL QGSNEIEIRAEGNSRFTYSVT
Chicken KNSVAYMDHDTGNLKKALLL QGANEIEIRAEGNSRFTYGVT
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.
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS ALA-1019; ALA-1075; LYS-1391 AND SER-1434;
Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations.
Korkko J.M.; Ala-Kokko L.; De Paepe A.; Nuytinck L.; Earley J.J.; Prockop D.J.;
Am. J. Hum. Genet. 62:98-110(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ALA-1075 AND LYS-1391;
Human pro alpha 1(I) collagen: cDNA sequence for the C-propeptide domain.
Maekelae J.K.; Raassina M.; Virta A.; Vuorio E.;
Nucleic Acids Res. 16:349-349(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1229-1454; VARIANT LYS-1391;
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