Sequence information
Variant position: 1663 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:
TRVCDDVNECETPGICGPGT
C YNTVGNYTCICPPDYMQVNG
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 TRVCDDVNECETPGICGPGTC YNTVGNYTCICPPDYMQVNG
Mouse TRVCDDVNECETPGICGPGTC YNTVGNYTCICPPDYMQVNG
Pig TRVCDDVNECETPGICGPGTC YNTVGNYTCICPPDYMQVNG
Bovine TRVCDDVNECETPGICGPGTC YNTVGNYTCICPPDYMQVNG
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
Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains.
Dietz H.C.; Saraiva J.M.; Pyeritz R.E.; Cutting G.R.; Francomano C.A.;
Hum. Mutat. 1:366-374(1992)
Cited for: VARIANTS MFS SER-1249; ARG-1663; SER-2221 AND SER-2307;
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.