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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q15582: Variant p.Val113Ile

Transforming growth factor-beta-induced protein ig-h3
Gene: TGFBI
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Variant information Variant position: help 113
Type of variant: help LB/B
Residue change: help From Valine (V) to Isoleucine (I) at position 113 (V113I, p.Val113Ile).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 3
Variant description: help In granular corneal dystrophy; unclassified form; with centrifuge pattern of opacities.
Other resources: help


Sequence information Variant position: help 113
Protein sequence length: help 683
Location on the sequence: help GEKGCPAALPLSNLYETLGV V GSTTTQLYTDRTEKLRPEME
Residue conservation: help 
Human                         GEKGCPAALPLSNLYETLGVVGSTTTQLYTDRTEKLRPEME

Mouse                         GEKGCPAALPLSNLYETMGVVGSTTTQLYTDRTEKLRPEME

Pig                           GEKGCPAVLPLSNLYETLGVVGSTTTQLYTDRTEKLRPEME

Bovine                        GEKGCPAALPLSNLYETLGVVGATTTQLYTDRTEKLRPEME

Rabbit                        GERSCPAALPLANLYETLGVVGSTTTQLYTDRTEKLRPEME
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 24 – 683 Transforming growth factor-beta-induced protein ig-h3
Domain 103 – 236 FAS1 1
Disulfide bond 74 – 339



Literature citations
Expanding the mutational spectrum in TGFBI-linked corneal dystrophies: identification of a novel and unusual mutation (Val113Ile) in a family with granular dystrophy.
Zenteno J.C.; Ramirez-Miranda A.; Santacruz-Valdes C.; Suarez-Sanchez R.;
Mol. Vis. 12:331-335(2006)
Cited for: VARIANT GRANULAR CORNEAL DYSTROPHY ILE-113;
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.