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UniProtKB/Swiss-Prot P23142: Variant p.Cys397Phe

Fibulin-1
Gene: FBLN1
Variant information

Variant position:  397
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  US
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 Cysteine (C) to Phenylalanine (F) at position 397 (C397F, p.Cys397Phe).
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 polar (C) to large size and aromatic (F)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  Found in a family with syndactyly, undescended testes, delayed motor milestones, mental retardation and signs of brain atrophy; unknown pathological significance.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  397
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  703
The length of the canonical sequence.

Location on the sequence:   PGSFRCECKTGYYFDGISRM  C VDVNECQRYPGRLCGHKCEN
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                         PGSFRCECKTGYYFDGISRMCVDVNECQRYPGRLC--GHKCEN

Mouse                         PGSFRCECKAGFYFDGISRTCVDINECQRYPGRLC--GHKC

Chicken                       PGNYRCECKSGYSFDVISRTCIDINECRRYPGRLC--AHKC

Zebrafish                     VGSYRCECRTGFIFNSISRSCEDIDECRNYPGRLC--AHKC

Caenorhabditis elegans        PGTYKCKCGPGYEFNDAKKRCEDVDECIKFAGHVCDLSAEC

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 30 – 703 Fibulin-1
Domain 356 – 398 EGF-like 5; calcium-binding
Region 356 – 440 Self-association and FN1-binding; calcium is necessary for homotypic binding, but not for heterotypic binding
Disulfide bond 384 – 397


Literature citations

Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues.
Bohlega S.; Al-Ajlan H.; Al-Saif A.;
Eur. J. Hum. Genet. 22:640-643(2014)
Cited for: VARIANT PHE-397;

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.