Variant position: 678 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1366 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 GEPGLRGEIGNPGRDGARGA PGAVGAPGPAGATGDRGEAGA
Mouse GETGLRGDTGNTGRDGARGI PGAVGAPGPAGASGDRGEAGA
Rat GETGLRGEIGNPGRDGARGA PGAIGAPGPAGASGDRGEAGA
Bovine GETGLRGDIGSPGRDGARGA PGAIGAPGPAGANGDRGEAGP
Chicken GAPGLRGDTGATGRDGARGL PGAIGAPGPAGGAGDRGEGGP
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
80 – 1119 Collagen alpha-2(I) chain
Organization of the human pro-alpha 2(I) collagen gene.
de Wet W.J.; Bernard M.P.; Benson-Chanda V.; Chu M.-L.; Dickson L.A.; Weil D.; Ramirez F.;
J. Biol. Chem. 262:16032-16036(1987)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS ASN-249; THR-276; VAL-483; ALA-549; HIS-678; GLY-743; PHE-1022; GLU-1189; PRO-1198 AND HIS-1354;
The human type I collagen mutation database.
Nucleic Acids Res. 25:181-187(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; REVIEW ON OI VARIANTS; VARIANTS ALA-549; HIS-678 AND HIS-1354;
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 ILE-270; VAL-483; HIS-678; GLY-743; PHE-1022; GLU-1189; PRO-1198 AND HIS-1354;
Structure of a full-length cDNA clone for the prepro alpha 2(I) chain of human type I procollagen. Comparison with the chicken gene confirms unusual patterns of gene conservation.
Kuivaniemi H.; Tromp G.; Chu M.-L.; Prockop D.J.;
Biochem. J. 252:633-640(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-765; VARIANTS HIS-678 AND GLY-743;
Structure of a cDNA for the pro alpha 2 chain of human type I procollagen. Comparison with chick cDNA for pro alpha 2(I) identifies structurally conserved features of the protein and the gene.
Bernard M.P.; Myers J.C.; Chu M.-L.; Ramirez F.; Eikenberry E.F.; Prockop D.J.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 623-1366; VARIANTS HIS-678; PHE-1022; GLU-1189; PRO-1198 AND HIS-1354;
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