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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q5T1H1: Variant p.Asn745Ser

Protein eyes shut homolog
Gene: EYS
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Variant information Variant position: help 745
Type of variant: help US
Residue change: help From Asparagine (N) to Serine (S) at position 745 (N745S, p.Asn745Ser).
Physico-chemical properties: help Change from medium size and polar (N) to small size and polar (S)
BLOSUM score: help 1
Variant description: help In RP25; uncertain significance.
Other resources: help


Sequence information Variant position: help 745
Protein sequence length: help 3165
Location on the sequence: help YVGIRCEQDIDDCILNACEH N STCKDLHLSYQCVCLSDWEG
Residue conservation: help 
Human                         YVGIRCEQDIDDCILNACEHNSTCKDLHLSYQCVCLSDWEG

Zebrafish                     YAGVRCEQHINDCASNMCENNSTCVDLHLSYNCLCLPGWEG

Drosophila                    LTGMLCE-------------------------CLMVGE-ES
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 22 – 3165 Protein eyes shut homolog
Domain 733 – 769 EGF-like 9; calcium-binding
Disulfide bond 737 – 748
Disulfide bond 742 – 757
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;
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.