UniProtKB/Swiss-Prot O75445: Variant p.Gly713Arg

Usherin
Gene: USH2A
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Variant information Variant position:

713 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 Glycine (G) to Arginine (R) at position 713 (G713R, p.Gly713Arg). 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:

Change from glycine (G) to large size and basic (R) 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
Variant description:

Abolishes interaction with collagen IV. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs696723 [ dbSNP | Ensembl ]

Sequence information Variant position:

713 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:

PCNCNTSGTVDGDITCHQNS G QCKCKANVIGLRCDHCNFGF 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                         PCNCNTSGTVDGDITCHQNSGQCKCKANVIGLRCDHCNFGF

Mouse                         PCNCNPSGTVDGDITCHQNSGQCSCKANVIGLRCNRCNFGF

Rat                           PCDCNPSGTVDGDITCHHNSGQCSCKANVIGLRCDRCSFGF

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	32 – 5202	Usherin
Topological domain	32 – 5042	Extracellular
Domain	694 – 746	Laminin EGF-like 4
Glycosylation	697 – 697	N-linked (GlcNAc...) asparagine
Disulfide bond	696 – 715

Literature citations
Identification of novel USH2A mutations: implications for the structure of USH2A protein.
Dreyer B.; Tranebjaerg L.; Rosenberg T.; Weston M.D.; Kimberling W.J.; Nilssen O.;
Eur. J. Hum. Genet. 8:500-506(2000)
Cited for: VARIANTS USH2A TYR-163; MET-230 AND ARG-536; VARIANT ARG-713; Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.
Najera C.; Beneyto M.; Blanca J.; Aller E.; Fontcuberta A.; Millan J.M.; Ayuso C.;
Hum. Mutat. 20:76-77(2002)
Cited for: VARIANT ARG-713; VARIANT RP39 PHE-759; 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; 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; 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;

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.