Variant position: 49 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 EG-GCSHLGQSYADRDVWKPE PCQICVCDSGSVLCDDIICDD
Mouse DELGCSHLGQSYESRDVWKPE PCQICVCDSGSVLCDDIICD
Rat DELGCNYLGQSYESRDVWKPE PCQICVCDSGSVLCDDIMCD
Bovine --------------------- --------------------
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
24 – 153 N-terminal propeptide
30 – 89 VWFC
Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.
Horn D.; Siebert E.; Seidel U.; Rost I.; Mayer K.; Abou Jamra R.; Mitter D.; Kornak U.;
Am. J. Med. Genet. A 173:2534-2538(2017)
Cited for: INVOLVEMENT IN PMGEDSV; VARIANTS PMGEDSV ALA-49 AND 428-ARG--LEU-1466 DEL;
Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.
Vandervore L.; Stouffs K.; Tanyalcin I.; Vanderhasselt T.; Roelens F.; Holder-Espinasse M.; Joergensen A.; Pepin M.G.; Petit F.; Khau Van Kien P.; Bahi-Buisson N.; Lissens W.; Gheldof A.; Byers P.H.; Jansen A.C.;
J. Med. Genet. 54:432-440(2017)
Cited for: INTERACTION WITH ADGRG1; INVOLVEMENT IN PMGEDSV; VARIANT PMGEDSV ALA-49; CHARACTERIZATION OF VARIANT PMGEDSV ALA-49;
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.