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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O75445: Variant p.Cys419Phe

Usherin
Gene: USH2A
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Variant information Variant position: help 419 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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 Cysteine (C) to Phenylalanine (F) at position 419 (C419F, p.Cys419Phe). 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 (C) to large size and aromatic (F) 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 and RP39. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 419 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 IQRKKENSLDWEDWQYFARN C GAFGMKNNGDLEKPDSVNCL 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                         IQRKKENSLDWEDWQYFARNCGAFGMKNNGDLEKPDSVNCL

Mouse                         IQRKKADSSPWEDWQYFARNCSVWGMKDNEDLENPNSVNCL

Rat                           IQRKKADKSLWEDWQYFARNCSVWGMKNNGDLENPNSVNCL
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 271 – 517 Laminin N-terminal



Literature citations
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; 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; USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.
Pennings R.J.E.; Te Brinke H.; Weston M.D.; Claassen A.; Orten D.J.; Weekamp H.; Van Aarem A.; Huygen P.L.M.; Deutman A.F.; Hoefsloot L.H.; Cremers F.P.M.; Cremers C.W.R.J.; Kimberling W.J.; Kremer H.;
Hum. Mutat. 24:185-185(2004)
Cited for: VARIANTS USH2A HIS-346; PHE-419 AND ARG-536; VARIANT ARG-713; Next-generation genetic testing for retinitis pigmentosa.
Neveling K.; Collin R.W.; Gilissen C.; van Huet R.A.; Visser L.; Kwint M.P.; Gijsen S.J.; Zonneveld M.N.; Wieskamp N.; de Ligt J.; Siemiatkowska A.M.; Hoefsloot L.H.; Buckley M.F.; Kellner U.; Branham K.E.; den Hollander A.I.; Hoischen A.; Hoyng C.; Klevering B.J.; van den Born L.I.; Veltman J.A.; Cremers F.P.; Scheffer H.;
Hum. Mutat. 33:963-972(2012)
Cited for: VARIANTS RP39 PHE-419; PHE-759; CYS-1859; HIS-2460; TYR-3358; ARG-3669; CYS-4115; HIS-4192 AND MET-4425;
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.