UniProtKB/Swiss-Prot O75445: Variant p.Asn2394Lys

Usherin
Gene: USH2A
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Variant information Variant position:

2394 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 Asparagine (N) to Lysine (K) at position 2394 (N2394K, p.Asn2394Lys). 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 medium size and polar (N) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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

Sequence information Variant position:

2394 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:

VGNNYTLLNVTKVMYSGEET N LWVLIDGLVPFTNYTVQVNI 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                         VGNNYTLLNVTKVMYSGEETNLWVLIDGLVPFTNYTVQVNI

Mouse                         AGDNYTLLSGTKTIRGIEGSRLWVLVDGLVPCSHYMVQVNA

Rat                           AGDNYTLLSSTKTVHSSKGDRLWVLVDRLVPCSNYTVQVNA

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	2331 – 2433	Fibronectin type-III 10
Glycosylation	2377 – 2377	N-linked (GlcNAc...) asparagine
Glycosylation	2382 – 2382	N-linked (GlcNAc...) asparagine
Glycosylation	2407 – 2407	N-linked (GlcNAc...) asparagine
Glycosylation	2413 – 2413	N-linked (GlcNAc...) asparagine
Alternative sequence	1547 – 5202	Missing. In isoform 2.

Literature citations
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.
Garcia-Garcia G.; Aparisi M.J.; Jaijo T.; Rodrigo R.; Leon A.M.; Avila-Fernandez A.; Blanco-Kelly F.; Bernal S.; Navarro R.; Diaz-Llopis M.; Baiget M.; Ayuso C.; Millan J.M.; Aller E.;
Orphanet J. Rare Dis. 6:65-65(2011)
Cited for: VARIANTS USH2A ARG-44; MET-382; ARG-3546 AND ASP-3894; VARIANTS SER-2377; LYS-2394; ILE-3835 AND LYS-4921;

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.