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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P82279: Variant p.Val578Glu

Protein crumbs homolog 1
Gene: CRB1
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Variant information Variant position: help 578
Type of variant: help LP/P [Disclaimer]
Residue change: help From Valine (V) to Glutamate (E) at position 578 (V578E, p.Val578Glu).
Physico-chemical properties: help Change from medium size and hydrophobic (V) to medium size and acidic (E)
BLOSUM score: help -2
Variant description: help In RP12.
Other resources: help


Sequence information Variant position: help 578
Protein sequence length: help 1406
Location on the sequence: help ISHNTSDGEWHFVEVIFAEA V TLTLIDDSCKEKCIAKAPTP
Residue conservation: help 
Human                         ISHNTSDGEWHFVEVIFAEAVTLTLIDDSCKEKCIAKAPTP

Mouse                         ISHNTSDGEWHFVEVTIAETLTLALVGGSCKEKCTTKSSVP
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 26 – 1406 Protein crumbs homolog 1
Topological domain 26 – 1347 Extracellular
Domain 485 – 670 Laminin G-like 1
Glycosylation 561 – 561 N-linked (GlcNAc...) asparagine



Literature citations
CRB1 mutation spectrum in inherited retinal dystrophies.
den Hollander A.I.; Davis J.; van der Velde-Visser S.D.; Zonneveld M.N.; Pierrottet C.O.; Koenekoop R.K.; Kellner U.; van den Born L.I.; Heckenlively J.R.; Hoyng C.B.; Handford P.A.; Roepman R.; Cremers F.P.M.;
Hum. Mutat. 24:355-369(2004)
Cited for: VARIANTS RP12 PHE-195; GLU-578; TYR-587; MET-745; CYS-764; THR-836; SER-850; TYR-948; SER-959; ILE-986; THR-1100 AND HIS-1383; VARIANT LCA8 THR-205; VARIANT GLN-905;
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.