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UniProtKB/Swiss-Prot P35555: Variant p.Tyr1261Asp

Fibrillin-1
Gene: FBN1
Variant information

Variant position:  1261
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 Tyrosine (Y) to Aspartate (D) at position 1261 (Y1261D, p.Tyr1261Asp).
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 large size and aromatic (Y) to medium size and acidic (D)
The physico-chemical property of the reference and variant residues and the change implicated.

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



Sequence information

Variant position:  1261
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:   ECEDNPNICDGGQCTNIPGE  Y RCLCYDGFMASEDMKTCVDV
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                         ECEDNPNICDGGQCTNIPGEYRCLCYDGFMASEDMKTCVDV

Mouse                         ECEDNPNICDGGQCTNIPGEYRCLCYDGFMASEDMKTCVDV

Pig                           ECEDNPNICDGGQCTNIPGEYRCLCYDGFMASEDMKTCVDV

Bovine                        ECEDNPNICDGGQCTNIPGEYRCLCYDGFMASEDMKTCVDV

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
Domain 1238 – 1279 EGF-like 20; calcium-binding
Disulfide bond 1249 – 1263


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;

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.