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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O75445: Variant p.Arg1486Lys

Usherin
Gene: USH2A
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Variant information Variant position: help 1486 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 Arginine (R) to Lysine (K) at position 1486 (R1486K, p.Arg1486Lys). 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 large size and basic. 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

Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1486 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 APAQLRPPLVKGINSTTIHL R WFPPEELNGPSPIYQLERRE 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                         APAQLRPPLVKGINSTTIHLRWFPPEELNGPSPIYQLERRE

Mouse                         APAQLRPPMVTGVNSTTVHIRWLPPAGVNGPPPLYHLERKK

Rat                           APAQLRSPMVTGVTSTTVHIRWLPPAEVNGPPPLYRLERRE

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
Glycosylation 1479 – 1479 N-linked (GlcNAc...) asparagine



Literature citations
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.
Eudy J.D.; Weston M.D.; Yao S.F.; Hoover D.M.; Rehm H.L.; Ahmad I.; Ma-Edmonds M.; Yan D.; Cheng J.J.; Beisel K.W.; Ayuso C.; Cremers C.; Davenport S.; Moller C.; Talmadge C.B.; Tamayo M.; Swaroop A.; Morton C.C.; Kimberling W.J.; Sumegi J.;
Science 280:1753-1757(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); INVOLVEMENT IN USH2A; TISSUE SPECIFICITY; VARIANTS SER-479 AND LYS-1486; Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.
Weston M.D.; Eudy J.D.; Fugita S.; Yao S.-F.; Usami S.; Cremers C.; Greenberg J.; Ramesar R.; Martini A.; Moller C.; Smith R.J.; Sumegi J.; Kimberling W.J.;
Am. J. Hum. Genet. 66:1199-1210(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; INVOLVEMENT IN USH2A; VARIANT LYS-1486; VARIANTS USH2A TYR-319; HIS-346 AND PHE-419; Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families.
Adato A.; Weston M.D.; Berry A.; Kimberling W.J.; Bonne-Tamir A.;
Hum. Mutat. 15:388-388(2000)
Cited for: VARIANTS USH2A TRP-334 AND MET-1515; VARIANTS ASP-478; VAL-644 AND LYS-1486; Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.
Seyedahmadi B.J.; Rivolta C.; Keene J.A.; Berson E.L.; Dryja T.P.;
Exp. Eye Res. 79:167-173(2004)
Cited for: VARIANTS USH2A ILE-307; ILE-391; PHE-419; CYS-464; VAL-516; THR-517; SER-575; ASN-587 DEL AND LEU-1059; VARIANTS RP39/USH2A ASP-478 AND PHE-759; VARIANTS RP39 LEU-739; ASN-911 AND ARG-1470; VARIANTS THR-125; MET-230; ARG-268; PHE-365; VAL-644; ARG-713; VAL-1047 AND LYS-1486; Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype-phenotype correlation.
Bernal S.; Meda C.; Solans T.; Ayuso C.; Garcia-Sandoval B.; Valverde D.; Del Rio E.; Baiget M.;
Clin. Genet. 68:204-214(2005)
Cited for: VARIANT RP39 PHE-759; VARIANTS THR-125; ASP-478; VAL-644; GLU-703; TYR-841 AND LYS-1486; Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2.
Kaiserman N.; Obolensky A.; Banin E.; Sharon D.;
Arch. Ophthalmol. 125:219-224(2007)
Cited for: VARIANT RP39 GLY-4674; VARIANTS THR-125; ASP-478; VAL-644; ARG-713; LYS-1486; THR-1665; THR-2106; THR-2169; GLN-2875; SER-3099; ASN-3144 AND MET-3335; Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
Dreyer B.; Brox V.; Tranebjaerg L.; Rosenberg T.; Sadeghi A.M.; Moeller C.; Nilssen O.;
Hum. Mutat. 29:451-451(2008)
Cited for: VARIANTS USH2A TYR-163; ARG-268; CYS-303; TRP-334; HIS-346; ILE-352; ARG-536; PHE-759; LEU-1212; 2265-GLU-TYR-2266 DELINS ASP; GLY-3124; THR-3504; ARG-3521; ILE-4054; ARG-4232; ILE-4439; CYS-4487; HIS-4592 AND ARG-4795; VARIANTS THR-125; MET-230; ASP-478; SER-595; VAL-644; ARG-713; PRO-1349; LYS-1486; PHE-1572; THR-1665; CYS-1757; ASN-2080; ASN-2086; THR-2106; THR-2169; ALA-2238; HIS-2292; ALA-2562; GLN-2875; PHE-2886; LYS-3088; SER-3099; ALA-3115; ASN-3144; ASP-3199; ALA-3411; LEU-3590; ILE-3835; VAL-3868; THR-3893; LEU-4433; VAL-4624 AND TRP-5031; Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2.
Nakanishi H.; Ohtsubo M.; Iwasaki S.; Hotta Y.; Mizuta K.; Mineta H.; Minoshima S.;
Clin. Genet. 76:383-391(2009)
Cited for: VARIANTS USH2A PRO-180; TYR-691; SER-1369 DEL; ARG-2752; GLY-3515; MET-3571 AND CYS-3747; VARIANTS LYS-1486; THR-2106; THR-2169; GLN-2875; PHE-2886; ALA-3115; ASP-3199; ALA-3411; ILE-3835; VAL-3868; ARG-4203; HIS-4493; VAL-4611; GLU-4838; GLN-4848 AND GLU-5026; Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.
Xu W.; Dai H.; Lu T.; Zhang X.; Dong B.; Li Y.;
Mol. Vis. 17:1537-1552(2011)
Cited for: VARIANT RP39 TRP-934; VARIANT USH2A CYS-2744; VARIANTS THR-125; LYS-1486; THR-2106; THR-2169 AND ALA-3411;
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.