UniProtKB/Swiss-Prot Q5T1H1: Variant p.Val2040Asp

Protein eyes shut homolog
Gene: EYS
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Variant information Variant position:

2040 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 Valine (V) to Aspartate (D) at position 2040 (V2040D, p.Val2040Asp). 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 hydrophobic (V) to medium size and acidic (D) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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:

Links to websites of interest for the variant.

Variant rs201580493 [ dbSNP | Ensembl ]

Sequence information Variant position:

2040 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

3165 The length of the canonical sequence.
Location on the sequence:

DLHGKIQMPVPVKNFTGCIE V IEINNWRSFIPSKAVKNYHI 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                         DLHGKIQMPVPVKNFTGCIEVIEINNWRSFIPSKAVKNYHI

Zebrafish                     RHRSPYKEAEPFHNYTGCIEIIEINKLRRFHMDHAIARNNV

Drosophila                    PVTQPPPTIPPTPPSTQSAQTLP-------PPTSAINVYTT

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	22 – 3165	Protein eyes shut homolog
Domain	1883 – 2063	Laminin G-like 1
Disulfide bond	2037 – 2063
Alternative sequence	595 – 3165	Missing. In isoform 2 and isoform 3.

Literature citations
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.
Barragan I.; Borrego S.; Pieras J.I.; Gonzalez-del Pozo M.; Santoyo J.; Ayuso C.; Baiget M.; Millan J.M.; Mena M.; El-Aziz M.M.; Audo I.; Zeitz C.; Littink K.W.; Dopazo J.; Bhattacharya S.S.; Antinolo G.;
Hum. Mutat. 31:E1772-E1800(2010)
Cited for: VARIANTS RP25 SER-745; ARG-1484; VAL-2017; LEU-2211; LYS-2503 AND GLU-2945; VARIANTS PRO-1987; ASP-2040 AND CYS-2556; EYS is a major gene for rod-cone dystrophies in France.
Audo I.; Sahel J.-A.; Mohand-Saied S.; Lancelot M.-E.; Antonio A.; Moskova-Doumanova V.; Nandrot E.F.; Doumanov J.; Barragan I.; Antinolo G.; Bhattacharya S.S.; Zeitz C.;
Hum. Mutat. 31:E1406-E1435(2010)
Cited for: VARIANTS RP25 SER-618; SER-745; SER-1110; ARG-1176; PHE-1232; TYR-1682; GLY-1747; MET-1869; TYR-2139; PRO-2189; LEU-2211; THR-2829; TYR-2911 AND GLU-2928; VARIANTS GLN-94; ILE-112; MET-120; LEU-135; PHE-136; ASN-326; ASN-532; LEU-551; ARG-571; SER-631; VAL-641; ILE-834; ARG-938; LYS-1163; VAL-1263; GLU-1325; VAL-1361; GLU-1365; SER-1419; THR-1451; TRP-1515; GLY-1517; VAL-1662; ILE-1664; LEU-1739; PHE-1748; SER-1837; VAL-1873; ILE-1902; GLY-1915; PRO-1987; ALA-1993; VAL-1999; ASP-2040; SER-2151; GLN-2326; CYS-2556; ARG-2599; PRO-2757 AND ILE-2831; PEX6 is expressed in photoreceptor cilia and mutated in deafblindness with enamel dysplasia and microcephaly.
Zaki M.S.; Heller R.; Thoenes M.; Nuernberg G.; Stern-Schneider G.; Nuernberg P.; Karnati S.; Swan D.; Fateen E.; Nagel-Wolfrum K.; Mostafa M.I.; Thiele H.; Wolfrum U.; Baumgart-Vogt E.; Bolz H.J.;
Hum. Mutat. 37:170-174(2016)
Cited for: VARIANT ASP-2040;

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.