Variant position: 332 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 RPGAPGPAGARGNDGATGAA GPPGPTGPAGPPGFPGAVGAK
Mouse RPGPPGTAGARGNDGAVGAA GPPGPTGPTGPPGFPGAVGAK
Rat RPGPPGSAGARGNDGAVGAA GPPGPTGPTGPPGFPGAAGAK
Bovine RPGAPGPAGARGNDGATGAA GPPGPTGPAGPPGFPGAVGAK
Chicken RPGPSGPAGARGNDGAPGAA GPPGPTGPAGPPGFPGAAGAK
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
162 – 1218 Collagen alpha-1(I) chain
179 – 1192 Triple-helical region
313 – 313 4-hydroxyproline
334 – 334 4-hydroxyproline
343 – 343 4-hydroxyproline
346 – 346 4-hydroxyproline
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen.
Pruchno C.J.; Cohn D.H.; Wallis G.A.; Willing M.C.; Starman B.J.; Zhang X.; Byers P.H.;
Hum. Genet. 87:33-40(1991)
Cited for: VARIANT OI3 ARG-332; VARIANT OI2 SER-1181;
Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation.
Zhuang J.; Tromp G.; Kuivaniemi H.; Castells S.; Prockop D.J.;
Am. J. Med. Genet. 61:111-116(1996)
Cited for: VARIANT OI3 ARG-332;
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.