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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35555: Variant p.Cys1900Tyr

Fibrillin-1
Gene: FBN1
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Variant information Variant position: help 1900 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Cysteine (C) to Tyrosine (Y) at position 1900 (C1900Y, p.Cys1900Tyr). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and polar (C) to large size and aromatic (Y) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In MFS. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1900 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2871 The length of the canonical sequence.
Location on the sequence: help FKTNDDQTMCLDINECERDA C GNGTCRNTIGSFNCRCNHGF 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         FKTNDDQTMCLDINECERDACGNGTCRNTIGSFNCRCNHGF

Mouse                         FKTNVDQTMCLDINECERDACGNGTCRNTIGSFNCRCNHGF

Pig                           FKTNADQTMCLDINECERDACGNGTCRNTIGSFNCRCNHGF

Bovine                        FKTNADQTMCLDINECERDACGNGTCRNTIGSFNCRCNHGF
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 45 – 2731 Fibrillin-1
Domain 1891 – 1929 EGF-like 32; calcium-binding
Region 1528 – 2731 C-terminal domain
Glycosylation 1902 – 1902 N-linked (GlcNAc...) asparagine
Glycosylation 1911 – 1911 O-linked (Glc) serine
Disulfide bond 1895 – 1905
Disulfide bond 1900 – 1914



Literature citations
Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.
Arbustini E.; Grasso M.; Ansaldi S.; Malattia C.; Pilotto A.; Porcu E.; Disabella E.; Marziliano N.; Pisani A.; Lanzarini L.; Mannarino S.; Larizza D.; Mosconi M.; Antoniazzi E.; Zoia M.C.; Meloni G.; Magrassi L.; Brega A.; Bedeschi M.F.; Torrente I.; Mari F.; Tavazzi L.;
Hum. Mutat. 26:494-494(2005)
Cited for: VARIANTS MFS CYS-20; TYR-123; ARG-177; ARG-224; GLY-439; 629-VAL--GLY-633 DEL; CYS-635; ILE-636; TYR-832; GLY-890; ASP-1058; SER-1153; PHE-1211 DEL; CYS-1219; ASP-1261; SER-1278; SER-1333; ARG-1402; SER-1424; PHE-1564; GLY-1631; TYR-1663; TYR-1876; ILE-1887; ARG-1895; TYR-1900; PRO-2160; PHE-2221; THR-2385; ARG-2500; TYR-2500; TRP-2535; LYS-2570; ARG-2571; SER-2592; LYS-2610 AND CYS-2629; FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations.
Attanasio M.; Lapini I.; Evangelisti L.; Lucarini L.; Giusti B.; Porciani M.; Fattori R.; Anichini C.; Abbate R.; Gensini G.; Pepe G.;
Clin. Genet. 74:39-46(2008)
Cited for: VARIANTS MFS TYR-123; SER-136; SER-177; TYR-177; SER-214; 348-GLN--HIS-2871 DEL; 429-ARG--HIS-2871 DEL; ARG-488; TYR-576; ARG-582; PHE-623; CYS-635; TYR-684; CYS-721; ARG-816; SER-880; GLU-884; TYR-1008; SER-1042; 1125-ARG--HIS-2871 DEL; 1136-TYR--HIS-2871 DEL; TRP-1182; TYR-1265; ARG-1320; 1534-CYS--HIS-2871 DEL; 1539-ARG--HIS-2871 DEL; 1541-ARG--HIS-2871 DEL; GLY-1631; ARG-1672; TYR-1672; GLY-1674; 1735-GLN--HIS-2871 DEL; LYS-1811; ARG-1847; TYR-1860; LYS-1894; TYR-1900; GLY-1934; TRP-1977; 2057-ARG--HIS-2871 DEL; 2062-TYR--HIS-2871 DEL; 2064-LYS--HIS-2871 DEL; TYR-2084; LYS-2130; ARG-2221; TYR-2232; THR-2269; THR-2284; TYR-2470; PRO-2561; LYS-2570; ARG-2577 AND 2694-ARG--HIS-2871 DEL; VARIANTS PRO-39; ARG-937; ALA-1020; TRP-2726 AND 2774-LYS--HIS-2871 DEL; Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.
Baetens M.; Van Laer L.; De Leeneer K.; Hellemans J.; De Schrijver J.; Van De Voorde H.; Renard M.; Dietz H.; Lacro R.V.; Menten B.; Van Criekinge W.; De Backer J.; De Paepe A.; Loeys B.; Coucke P.J.;
Hum. Mutat. 32:1053-1062(2011)
Cited for: VARIANTS MFS GLY-80; TYR-490; TYR-499; ARG-611; GLY-617; TRP-685; TYR-685; TYR-790; TYR-811; SER-853; TYR-926; SER-1090; ASP-1185; TYR-1284; PHE-1350; ALA-1401; TRP-1431; TYR-1431; ALA-1487; LYS-1489; CYS-1838; TYR-1900; THR-1909; SER-1934; GLY-1976; ARG-1984; ASN-2166; THR-2185; GLY-2247; ARG-2318; TYR-2406; SER-2442; ARG-2511; VAL-2606 DEL; LYS-2610 AND ARG-2646; VARIANTS GLY-1481 AND HIS-2793;
Disclaimer: 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.