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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P82279: Variant p.Ile989Thr

Protein crumbs homolog 1
Gene: CRB1
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Variant information Variant position: help 989
Type of variant: help LP/P [Disclaimer]
Residue change: help From Isoleucine (I) to Threonine (T) at position 989 (I989T, p.Ile989Thr).
Physico-chemical properties: help Change from medium size and hydrophobic (I) to medium size and polar (T)
BLOSUM score: help -1
Variant description: help In LCA8.


Sequence information Variant position: help 989
Protein sequence length: help 1406
Location on the sequence: help ITRELTNITFGFRTRDANVI I LHAEKEPEFLNISIQDSRLF
Residue conservation: help 
Human                         ITRELTNITFGFRTRDANVIILHAEKEPEFLNISIQDSRLF

Mouse                         ITRELTNITFAFRTHDTNVMILHAEKEPEFLNISIQDARLF
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 26 – 1406 Protein crumbs homolog 1
Topological domain 26 – 1347 Extracellular
Domain 950 – 1137 Laminin G-like 3
Glycosylation 975 – 975 N-linked (GlcNAc...) asparagine
Glycosylation 1000 – 1000 N-linked (GlcNAc...) asparagine
Alternative sequence 710 – 1245 Missing. In isoform 5.



Literature citations
Mutation screening of Pakistani families with congenital eye disorders.
Khaliq S.; Abid A.; Hameed A.; Anwar K.; Mohyuddin A.; Azmat Z.; Shami S.A.; Ismail M.; Mehdi S.Q.;
Exp. Eye Res. 76:343-348(2003)
Cited for: VARIANTS RP12 ARG-846 AND PRO-1071; VARIANT LCA8 THR-989;
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.