Variant position: 264 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1466 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 LPGPPGIKGPAGIPGFPGMK GHRGFDGRNGEKGETGAPGLK
Mouse LPGPPGIKGPAGMPGFPGMK GHRGFDGRNGEKGETGAPGLK
Rat LPGPPGIKGPAGIPGFPGMK GHRGFDGRNGEKGETGAPGLK
Bovine FPGPPGMKGPAGMPGFPGMK GHRGFDGRNGEKGEPGAPGLK
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
154 – 1221 Collagen alpha-1(III) chain
168 – 1196 Triple-helical region
245 – 245 4-hydroxyproline
248 – 248 4-hydroxyproline
257 – 257 4-hydroxyproline
260 – 260 4-hydroxyproline
263 – 263 5-hydroxylysine; alternate
281 – 281 4-hydroxyproline
284 – 284 5-hydroxylysine
263 – 263 O-linked (Gal...) hydroxylysine; alternate
Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays.
Giunta C.; Steinmann B.;
Hum. Mutat. 16:176-177(2000)
Cited for: VARIANTS EDSVASC ASP-204; ASP-210; ARG-264; ASP-327; ASP-1098 AND GLU-1173;
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.