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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35555: Variant p.Asn1907Ser

Fibrillin-1
Gene: FBN1
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Variant information Variant position: help 1907 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Asparagine (N) to Serine (S) at position 1907 (N1907S, p.Asn1907Ser). 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 (N) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help Found in a patient with Marfan-like syndrome; likely pathogenic. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1907 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 TMCLDINECERDACGNGTCR N TIGSFNCRCNHGFILSHNND 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                         TMCLDINECERDACGNGTCRNTIGSFNCRCNHGFILSHNND

Mouse                         TMCLDINECERDACGNGTCRNTIGSFNCRCNHGFILSHNND

Pig                           TMCLDINECERDACGNGTCRNTIGSFNCRCNHGFILSHNND

Bovine                        TMCLDINECERDACGNGTCRNTIGSFNCRCNHGFILSHNND

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 1891 – 1929 EGF-like 32; calcium-binding
Region 1528 – 2731 C-terminal domain
Glycosylation 1902 – 1902 N-linked (GlcNAc...) asparagine
Glycosylation 1911 – 1911 O-linked (Glc) serine
Disulfide bond 1900 – 1914



Literature citations
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.
Comeglio P.; Johnson P.; Arno G.; Brice G.; Evans A.; Aragon-Martin J.; da Silva F.P.; Kiotsekoglou A.; Child A.;
Hum. Mutat. 28:928-928(2007)
Cited for: VARIANTS MFS CYS-122; SER-214; 248-ASP--HIS-2871 DEL; 351-GLN--HIS-2871 DEL; ARG-365; 366-TRP--HIS-2871 DEL; TRP-474; CYS-545; TRP-546; 565-ARG--HIS-2871 DEL; TYR-727; CYS-828; TYR-832; 861-ARG--HIS-2871 DEL; VAL-882; CYS-974; HIS-976; 994-GLU--HIS-2871 DEL; TYR-1032; THR-1048; TYR-1074; ILE-1088; 1125-ARG--HIS-2871 DEL; TYR-1138; 1140-CYS--HIS-2871 DEL; GLY-1158; HIS-1170; ARG-1223; ARG-1249; TYR-1307; ARG-1326; LEU-1346; LYS-1366; TYR-1402; ALA-1424; ASP-1427; ARG-1485; TYR-1528; 1541-ARG--HIS-2871 DEL; ARG-1622; TYR-1720; TYR-1793; VAL-1796; SER-1806; LYS-1811; CYS-1830; PHE-1835; TRP-1847; ASP-1879; ARG-1987; 2053-CYS--HIS-2871 DEL; MET-2118; GLU-2127; ASP-2144; PRO-2145; TYR-2153; THR-2185; 2220-ARG--HIS-2871 DEL; THR-2269; TRP-2274; LYS-2447; ARG-2489; MET-2520; ARG-2536; 2542-GLN--HIS-2871 DEL; VAL-2555; 2571-CYS--HIS-2871 DEL; TYR-2577; THR-2585; LYS-2610 AND ARG-2618; VARIANTS ECTOL1 CYS-63; SER-68; CYS-240; TRP-365; CYS-545; ARG-596; PRO-634; VAL-882; 1086-CYS--HIS-2871 DEL; ASN-1155; ARG-1692 DEL; GLY-2250; CYS-2272; LYS-2447 AND ARG-2448; VARIANTS ASP-127; ARG-160; SER-164; 215-ARG--HIS-2871 DEL; 364-ARG--HIS-2871 DEL; ARG-504; TYR-652; 653-VAL--HIS-2871 DEL; 752-SER--HIS-2871 DEL; CYS-954; 966-GLU--HIS-2871 DEL; 988-TRP--HIS-2871 DEL; GLY-1028; GLY-1406; SER-1633; 1644-ARG--HIS-2871 DEL; PHE-1777; 1796-GLY--HIS-2871 DEL; TYR-1812; SER-1907; HIS-1930; LYS-2105; ASP-2136; 2169-GLU--HIS-2871 DEL; ARG-2195; PRO-2224; 2229-GLU--HIS-2871 DEL; MET-2234; THR-2273; TRP-2289; TYR-2302; TYR-2365; TRP-2470; ILE-2516; SER-2526; PHE-2541; TRP-2554; TRP-2726 AND 2840-LYS--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.