Variant position: 1184 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 PPGPRGRTGDAGPVGPPGPP GPPGPPGPPSAGFDFSFLPQP
Mouse PPGPRGRTGDSGPAGPPGPP GPPGPPGPPSGGYDFSFLPQP
Rat PPGPRGRTGDSGPAGPPGPP GPPGPPGPPSGGYDFSFLPQP
Bovine PPGPRGRTGDAGPAGPPGPP GPPGPPGPPSGGYDLSFLPQP
Chicken PPGPRGRTGEVGPVGPPGPP GPPGPPGPPSGGFDLSFLPQP
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.
Characterization of point mutations in the collagen COL1A1 and COL1A2 genes causing lethal perinatal osteogenesis imperfecta.
Lamande S.R.; Dahl H.-H.M.; Cole W.G.; Bateman J.F.;
J. Biol. Chem. 264:15809-15812(1989)
Cited for: VARIANTS OI2 ALA-1106; VAL-1151; ARG-1154 AND VAL-1184;
The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro alpha 1 (I) chain of type I procollagen.
Cole W.G.; Patterson E.; Bonadio J.; Campbell P.E.; Fortune D.W.;
J. Med. Genet. 29:112-118(1992)
Cited for: VARIANTS OI2 VAL-434; VAL-1151 AND VAL-1184;
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.