Sequence information
Variant position: 1513 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2871 The length of the canonical sequence.
Location on the sequence:
DPTTCISGNCVNTPGSYICD
C PPDFELNPTRVGCVDTRSGN
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 DPTTCISGNCVNTPGSYICDC PPDFELNPTRVGCVDTRSGN
Mouse DPTTCISGNCVNTPGSYTCDC PPDFELNPTRVGCVDTRSGN
Pig EPPTCISGNCVNTPGSYTCVC PPDFELNPTRVGCVDTRSGN
Bovine DPTTCISGNCVNTPGSYTCDC PPDFELNPTRVGCVDTRSGN
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.
Literature citations
Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome.
Kainulainen K.; Karttunen L.; Puhakka L.; Sakai L.; Peltonen L.;
Nat. Genet. 6:64-69(1994)
Cited for: VARIANTS MFS GLY-217; ASN-1023; ARG-1074; TYR-1242; ARG-1513; GLU-2127; TRP-2151; LYS-2447 AND ARG-2511;
Disclaimer:
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.