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UniProtKB/Swiss-Prot P35555: Variant p.Asp654Asn

Fibrillin-1
Gene: FBN1
Variant information

Variant position:  654
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Aspartate (D) to Asparagine (N) at position 654 (D654N, p.Asp654Asn).
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:  Change from medium size and acidic (D) to medium size and polar (N)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
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:  In MFS.
Any additional useful information about the variant.



Sequence information

Variant position:  654
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:   SYRCECFPGLAVGLDGRVCV  D THMRSTCYGGYKRGQCIKPL
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                         SYRCECFPGLAVGLDGRVCVDTHMRSTCYGGYKRGQCIKPL

Mouse                         SYRCECFPGLAVGLDGRVCVDTHMRSTCYGGYRRGQCVKPL

Pig                           SYRCECFPGLAVGLDGRVCVDTHMRSTCYGGYKRGQCVKPL

Bovine                        SYRCECFPGLAVGLDGRVCVDTHMRSTCYGGYKRGQCVKPL

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.

TypePositionsDescription
Chain 45 – 2731 Fibrillin-1


Literature citations

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;

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.