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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35555: Variant p.Cys2511Arg

Fibrillin-1
Gene: FBN1
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Variant information Variant position: help 2511 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 Arginine (R) at position 2511 (C2511R, p.Cys2511Arg). 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 basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 2511 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 TKQHNCQFLCVNTIGGFTCK C PPGFTQHHTSCIDNNECTSD 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                         TKQHNCQFLCVNTIGGFTCKCPPGFTQHHTSCIDNNECTSD

Mouse                         TKQHNCQFLCVNTIGGFTCKCPPGFTQHHTACIDNNECTSD

Pig                           TKQHNCQFLCVNTIGSFACKCPPGFTQHHTACIDNNECTSD

Bovine                        TKQHNCQFLCVNTIGSFTCKCPPGFTQHHTACIDNNECTSD
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 2485 – 2523 EGF-like 43; calcium-binding
Region 1528 – 2731 C-terminal domain
Disulfide bond 2511 – 2522



Literature citations
Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome.
Kainulainen K.; Karttunen L.; Puhakka L.; Sakai L.; Peltonen L.;
Nat. Genet. 6:64-69(1994)
Cited for: VARIANTS MFS GLY-217; ASN-1023; ARG-1074; TYR-1242; ARG-1513; GLU-2127; TRP-2151; LYS-2447 AND ARG-2511; Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.
Collod-Beroud G.; Beroud C.; Ades L.; Black C.; Boxer M.; Brock D.J.; Godfrey M.; Hayward C.; Karttunen L.; Milewicz D.; Peltonen L.; Richards R.I.; Wang W.; Junien C.; Boileau C.;
Nucleic Acids Res. 25:147-150(1997)
Cited for: VARIANTS MFS ARG-661; ARG-1043 AND ARG-2511; 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.