Variant position: 129 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 PSCGSRSIQHCNIRCMNGGS CSDDHCLCQKGYIGTHCGQPV
Mouse PSCGSRSIQHCSIRCMNGGS CSDDHCLCQKGYIGTHCGQPV
Pig PSCGSRSIQHCNIRCMNGGS CSDDHCLCQKGYIGTHCGQPV
Bovine PSCGSRSIQHCNIRCMNGGS CSDDHCLCQKGYIGTHCGQPV
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;
Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.
Chung B.H.; Lam S.T.; Tong T.M.; Li S.Y.; Lun K.S.; Chan D.H.; Fok S.F.; Or J.S.; Smith D.K.; Yang W.; Lau Y.L.;
Am. J. Med. Genet. A 149A:1452-1459(2009)
Cited for: VARIANTS MFS ASP-57; TYR-100; TYR-129; 861-ARG--HIS-2871 DEL; HIS-910; 921-CYS--HIS-2871 DEL; PRO-1130; 1790-ARG--HIS-2871 DEL; ARG-1812; SER-1826; TRP-2084; LYS-2130; SER-2144; 2298-LYS--HIS-2871 DEL; TYR-2522 AND SER-2708;
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.