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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35555: Variant p.His219Gln

Fibrillin-1
Gene: FBN1
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Variant information Variant position: help 219 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 Histidine (H) to Glutamine (Q) at position 219 (H219Q, p.His219Gln). 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 Similar physico-chemical property. Both residues are medium size and polar. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 219 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 LSGIVCTKTLCCATVGRAWG H PCEMCPAQPHPCRRGFIPNI 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                         LSGIVCTKTLCCATVGRAWGHPCEMCPAQPHPCRRGFIPNI

Mouse                         LSGIVCTKTLCCATVGRAWGHPCEMCPAQPHPCRRGFIPNI

Pig                           LSGIVCTKTLCCATVGRAWGHPCEMCPAQPHPCRRGFIPNI

Bovine                        LSGIVCTKTLCCATVGRAWGHPCEMCPAQPHPCRRGFIPNI
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 184 – 236 TB 1
Region 45 – 450 N-terminal domain
Region 119 – 329 Interaction with MFAP4
Region 195 – 221 Hybrid domain 1
Turn 218 – 221



Literature citations
Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.
Wang W.J.; Han P.; Zheng J.; Hu F.Y.; Zhu Y.; Xie J.S.; Guo J.; Zhang Z.; Dong J.; Zheng G.Y.; Cao H.; Liu T.S.; Fu Q.; Sun L.; Yang B.B.; Tian X.L.;
J. Mol. Med. 91:37-47(2013)
Cited for: VARIANTS MFS GLU-55; GLN-219; SER-699; SER-880; TYR-908; ARG-1117; ALA-1199; 1539-ARG--HIS-2871 DEL; GLY-1642; ARG-1865; 2081-GLN--HIS-2871 DEL AND 2220-ARG--HIS-2871 DEL;
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.