Variant position: 748 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 ALDPDICPNGICENLRGTYK CICNSGYEVDSTGKNCVDINE
Mouse ALDPDICPNGICENLRGTYK CICNSGYEVDITGKNCVDINE
Pig ALDPDICPNGICENLRGTYK CICNSGYEVDSTGKNCVDINE
Bovine ALDPDICPNGICENLRGTYK CICNSGYEVDSTGKNCVDINE
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.
TGGE screening of the entire FBN1 coding sequence in 126 individuals with Marfan syndrome and related fibrillinopathies.
Katzke S.; Booms P.; Tiecke F.; Palz M.; Pletschacher A.; Turkmen S.; Neumann L.M.; Pregla R.; Leitner C.; Schramm C.; Lorenz P.; Hagemeier C.; Fuchs J.; Skovby F.; Rosenberg T.; Robinson P.N.;
Hum. Mutat. 20:197-208(2002)
Cited for: VARIANTS MFS CYS-62; TYR-587; TYR-596; ASN-654; TYR-681; ARG-683; TRP-685; VAL-723; PHE-734; TYR-748; GLY-776; ARG-781; ARG-908; GLY-921; PRO-1790; SER-1806; VAL-1931 DEL; TYR-1998; GLY-2221; THR-2269 AND TRP-2335; VARIANTS ECTOL1 CYS-115; TYR-661 AND TYR-2339; VARIANT MET-2101;
Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice.
Halliday D.J.; Hutchinson S.; Lonie L.; Hurst J.A.; Firth H.; Handford P.A.; Wordsworth P.;
J. Med. Genet. 39:589-593(2002)
Cited for: VARIANTS MFS CYS-627; ASN-654; TYR-748; 1541-ARG--HIS-2871 DEL; TYR-1835; ARG-1977; TYR-2258; 2394-ARG--HIS-2871 DEL; 2466-TYR--HIS-2871 DEL AND 2467-GLN--HIS-2871 DEL; VARIANT PRO-2780;
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.