Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O75445: Variant p.Pro4269Arg

Usherin
Gene: USH2A
Feedback?
Variant information Variant position: help 4269 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Proline (P) to Arginine (R) at position 4269 (P4269R, p.Pro4269Arg). 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 hydrophobic (P) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In USH2A; uncertain significance. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 4269 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 5202 The length of the canonical sequence.
Location on the sequence: help TCSSWNVVRTLQAPPEGLSP P VISYVSMNPQKLLISWIPPE 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                         TCSSWNVVRTLQAPPEGLSPPVISYVSMNPQKLLISWIPPE

Mouse                         TCSSWNVVRTLQAPPDGLSPPEISYVSMSPLQLLISWLPPR

Rat                           TCSSWSVVRTSQAPPDGLSPPEVSYVSTSPLQLLISWFAPR

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 32 – 5202 Usherin
Topological domain 32 – 5042 Extracellular
Domain 4262 – 4357 Fibronectin type-III 28
Alternative sequence 1547 – 5202 Missing. In isoform 2.



Literature citations
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.
McGee T.L.; Seyedahmadi B.J.; Sweeney M.O.; Dryja T.P.; Berson E.L.;
J. Med. Genet. 47:499-506(2010)
Cited for: VARIANTS USH2A THR-1836; GLY-1953; ASN-2080; ARG-2116; PHE-2128; TYR-2128; THR-2196; ALA-2238; PRO-2260; HIS-2292; ALA-2562; PRO-2639; SER-2786; 3263-ILE--GLY-3269 DEL; LYS-3448; ILE-3462; CYS-3479; SER-3529; MET-3844; LYS-3904; ARG-4174; ARG-4269; LEU-4433; 4445-GLU--SER-4449 DELINS ASP-LEU; HIS-4570; GLU-4662; ARG-4692; ARG-4763; ARG-4808; ARG-4817 AND MET-4918; VARIANTS RP39 SER-1978; TYR-2237; HIS-2573; LYS-2930; TYR-3358; TYR-3384; PRO-3606; SER-3618; HIS-3719; LYS-4094; HIS-4192; ASN-4248; VAL-4447; PRO-4840; MET-4844; HIS-5143; ILE-5145 AND GLY-5188; VARIANTS PHE-1572; THR-1665; THR-2169; GLN-2875; SER-3099; ASN-3144; ALA-3411; VAL-3868; ASP-4778; GLU-4838; GLN-4848 AND GLU-5026;
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.