Variant position: 926 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:
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 TQCEDIDECEVFPGVCKNGL CVNTRGSFKCQCPSGMTLDAT
Mouse TQCEDINECEVFPGVCKNGL CVNSRGSFKCECPNGMTLDAT
Pig TQCEDIDECEVFPGVCKNGL CVNSKGSFKCQCPNGMTLDAT
Bovine TQCEDIDECEVFPGVCKNGL CVNSKGSFKCQCPSGMTLDAT
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.
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.
Nijbroek G.; Sood S.; McIntosh I.; Francomano C.A.; Bull E.; Pereira L.; Ramirez F.; Pyeritz R.E.; Dietz H.C.;
Am. J. Hum. Genet. 57:8-21(1995)
Cited for: VARIANTS MFS TYR-129; PHE-166; CYS-746; ARG-926; ARG-1013; LYS-1073; SER-1382 AND ARG-1928;
Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1.
Vollbrandt T.; Tiedemann K.; El-Hallous E.; Lin G.; Brinckmann J.; John H.; Baetge B.; Notbohm H.; Reinhardt D.P.;
J. Biol. Chem. 279:32924-32931(2004)
Cited for: CHARACTERIZATION OF VARIANTS MFS CYS-627; GLY-750 AND ARG-926;
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