Variant position: 3571 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 5202 The length of the canonical sequence.
Location on the sequence:
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 FSDKEGIQPFQEYSYQLKAC TVAGCATSSKVVAATTQGVPE
Mouse FTDTQGIQPLQEYSYQLKAC TAAGCAVSCKVVAATTQRSPE
Rat FTDTQGIQPLQEYSYQLKAC TAAGCADSCKVVATATRGVLE
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.
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.
Aller E.; Jaijo T.; Beneyto M.; Najera C.; Oltra S.; Ayuso C.; Baiget M.; Carballo M.; Antinolo G.; Valverde D.; Moreno F.; Vilela C.; Collado D.; Perez-Garrigues H.; Navea A.; Millan J.M.;
J. Med. Genet. 43:E55-E55(2006)
Cited for: VARIANTS USH2A ASP-2249; HIS-2354; ARG-3251; ARG-3267; TYR-3472 INS; MET-3571; MET-4337 AND LEU-4818; VARIANTS ARG-713; PHE-1572; THR-1665; THR-2106; THR-2169; ALA-2238; GLN-2875; PHE-2886; SER-3099; ASN-3144; ALA-3411 AND VAL-3868;
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.
Baux D.; Larrieu L.; Blanchet C.; Hamel C.; Ben Salah S.; Vielle A.; Gilbert-Dussardier B.; Holder M.; Calvas P.; Philip N.; Edery P.; Bonneau D.; Claustres M.; Malcolm S.; Roux A.-F.;
Hum. Mutat. 28:781-789(2007)
Cited for: VARIANTS USH2A GLU-218; PHE-280; LYS-284; TRP-334; GLN-334; HIS-346; ILE-352; PHE-759; GLU-1833; SER-2795; ARG-3282; MET-3571; GLU-3895; MET-3976; CYS-4115 AND MET-4425; VARIANT PHE-1572;
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;
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.