Variant position: 627 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 DGRYCKDINECETPGICMNG RCVNTDGSYRCECFPGLAVGL
Mouse DGRYCKDINECETPGICMNG RCVNTDGSYRCECFPGLAVGL
Pig DGRYCKDINECETSGICMNG RCVNTDGSYRCECFPGLAVGL
Bovine DGRYCKDINECETPGICMNG RCVNTDGSYRCECFPGLAVGL
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.
Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients.
Hayward C.; Rae A.L.; Porteous M.E.M.; Logie L.J.; Brock L.J.;
Hum. Mol. Genet. 3:373-375(1994)
Cited for: VARIANT MFS CYS-627;
Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations.
Hayward C.; Porteous M.E.M.; Brock D.J.H.;
Hum. Mutat. 10:280-289(1997)
Cited for: VARIANTS MFS ARG-111; CYS-545; CYS-627; GLY-750; ARG-1074; HIS-1170; TRP-1171; LYS-1173; TYR-1404; GLY-1610; LYS-1893; TRP-2099; TYR-2111; ARG-2258; TRP-2282 AND ARG-2489;
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;
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;
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.