Variant position: 257 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 KPGRPGERGPPGPQGARGLP GTAGLPGMKGHRGFSGLDGAK
Mouse KPGRPGERGPPGPQGARGLP GTAGLPGMKGHRGFSGLDGAK
Rat KPGRPGERGPPGPQGARGLP GTAGLPGMKGHRGFSGLDGAK
Bovine KPGRPGERGPPGPQGARGLP GTAGLPGMKGHRGFSGLDGAK
Chicken KPGRPGQRGPPGPQGARGLP GTAGLPGMKGHRGFSGLDGAK
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
241 – 241 4-hydroxyproline
247 – 247 4-hydroxyproline
256 – 256 4-hydroxyproline
262 – 262 4-hydroxyproline
265 – 265 5-hydroxylysine; alternate
271 – 271 Phosphoserine
265 – 265 O-linked (Gal...) hydroxylysine; alternate
Osteogenesis imperfecta: clinical, biochemical and molecular findings.
Venturi G.; Tedeschi E.; Mottes M.; Valli M.; Camilot M.; Viglio S.; Antoniazzi F.; Tato L.;
Clin. Genet. 70:131-139(2006)
Cited for: VARIANTS OI3 VAL-203 AND SER-821; VARIANTS OI4 ARG-257 AND SER-683;
Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.
Lee K.S.; Song H.R.; Cho T.J.; Kim H.J.; Lee T.M.; Jin H.S.; Park H.Y.; Kang S.; Jung S.C.; Koo S.K.;
Hum. Mutat. 27:599-599(2006)
Cited for: VARIANTS OI1/OI3/OI4 ARG-194; ASP-242; ARG-257; SER-722; SER-767; SER-821 AND SER-1058;
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.