Variant position: 1013 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 CEECPMRNTPEYEELCPRGP GFATKEITNGKPFFKDINECK
Mouse CEECPLRNSREYEELCPRGP GFATKDITNGKPFFKDINECK
Pig CEECPPRNTPEYEELCPRGP GFATKEITNGKPFFKDINECK
Bovine CEECPVRNTPEYEELCPRGP GFATKEITNGKRFFKDINECK
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
45 – 2731 Fibrillin-1
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;
Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.
Loeys B.; Nuytinck L.; Delvaux I.; De Bie S.; De Paepe A.;
Arch. Intern. Med. 161:2447-2454(2001)
Cited for: VARIANTS MFS PHE-89; CYS-122; CYS-240; CYS-366; CYS-545; SER-560; TYR-570; ASP-592; TRP-598; TYR-776; ARG-781; GLY-913; ARG-985; ARG-1013; TRP-1055; TYR-1055; CYS-1101; PRO-1337; TYR-1339; SER-1429; PRO-1790; TYR-1791; TYR-1835; THR-1909; SER-1915; TYR-1971; TYR-1977; HIS-2223; TRP-2282; TYR-2406; PHE-2581; THR-2585; ARG-2618; LYS-2624 AND CYS-2668; VARIANTS ECTOL1 CYS-1530 AND ARG-2154; VARIANT MITRAL VALVE PROLAPSE ILE-1128;
Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.
Biggin A.; Holman K.; Brett M.; Bennetts B.; Ades L.;
Hum. Mutat. 23:99-99(2004)
Cited for: VARIANTS MFS SER-154; SER-166; CYS-240; SER-652; THR-705; TYR-711; SER-816; ARG-1013; TYR-1044; GLY-1055; CYS-1101; TYR-1117; TYR-1153; ASN-1155; GLN-1325; LYS-1366; SER-1374; ARG-1389; 1394-GLY--THR-1396 DEL; ALA-1424; CYS-1530; TYR-1564; PHE-1770; TRP-1793; GLU-1796; TRP-2442; THR-2585 AND PRO-2623;
Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.
Rommel K.; Karck M.; Haverich A.; von Kodolitsch Y.; Rybczynski M.; Muller G.; Singh K.K.; Schmidtke J.; Arslan-Kirchner M.;
Hum. Mutat. 26:529-539(2005)
Cited for: VARIANTS MFS ASN-507 DEL; TYR-541; CYS-627; TYR-781; ARG-985; ARG-1013; VAL-1113; GLY-1284; SER-1475; GLU-1475; THR-1576; ARG-1791; GLY-1928; TYR-1928; TYR-2038; ARG-2085; SER-2144; ARG-2536 AND TYR-2605;
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.