UniProtKB/Swiss-Prot Q75N90: Variant p.Glu2610Asp

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 2610 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: 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: From Glutamate (E) to Aspartate (D) at position 2610 (E2610D, p.Glu2610Asp). 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: Similar physico-chemical property. Both residues are medium size and acidic. 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
Other resources: Links to websites of interest for the variant.

• Variant rs7257948 [ dbSNP | Ensembl ]

Sequence information

Variant position: 2610 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2809 The length of the canonical sequence.
Location on the sequence: GFRCVCPSGFDFDQALGGCQ E VDECAGRRGPCSYSCANTPG 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.
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.

Type	Positions	Description
Chain	49 – 2689	Fibrillin-3
Domain	2610 – 2649	EGF-like 44; calcium-binding

Literature citations

Differential expression of fibrillin-3 adds to microfibril variety in human and avian, but not rodent, connective tissues.
Corson G.M.; Charbonneau N.L.; Keene D.R.; Sakai L.Y.;
Genomics 83:461-472(2004)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANTS ASN-662; SER-1614 AND ASP-2610; Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients.
Uyeda T.; Takahashi T.; Eto S.; Sato T.; Xu G.; Kanezaki R.; Toki T.; Yonesaka S.; Ito E.;
J. Hum. Genet. 49:404-407(2004)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLN-473; ASN-662; LEU-935; PHE-938; TRP-1083; SER-1614; LYS-1869; PRO-1904 AND ASP-2610; Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
Nagase T.; Nakayama M.; Nakajima D.; Kikuno R.; Ohara O.;
DNA Res. 8:85-95(2001)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS ASN-662; ILE-1326; GLN-1806 AND ASP-2610;