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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UBX5: Variant p.Val60Leu

Fibulin-5
Gene: FBLN5
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Variant information Variant position: help 60
Type of variant: help LP/P [Disclaimer]
Residue change: help From Valine (V) to Leucine (L) at position 60 (V60L, p.Val60Leu).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 1
Variant description: help In ARMD3; no effect on secretion; no effect on homodimerization.
Other resources: help


Sequence information Variant position: help 60
Protein sequence length: help 448
Location on the sequence: help CLDIDECRTIPEACRGDMMC V NQNGGYLCIPRTNPVYRGPY
Residue conservation: help 
Human                         CLDIDECRTIPEACRGDMMCVNQNGGYLCIPRTNPVYRGPY

Mouse                         CLDIDECRTIPEACRGDMMCVNQNGGYLCIPRTNPVYRGPY

Rat                           CLDIDECRTIPEACRGDMMCVNQNGGYLCIPRTNPVYRGPY

Bovine                        CLDVDECRTIPEACRGDMMCVNQNGGYLCIPRTNPVYRGPY
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 24 – 448 Fibulin-5
Domain 42 – 82 EGF-like 1; calcium-binding
Disulfide bond 53 – 68



Literature citations
Missense variations in the fibulin 5 gene and age-related macular degeneration.
Stone E.M.; Braun T.A.; Russell S.R.; Kuehn M.H.; Lotery A.J.; Moore P.A.; Eastman C.G.; Casavant T.L.; Sheffield V.C.;
N. Engl. J. Med. 351:346-353(2004)
Cited for: VARIANTS ARMD3 LEU-60; GLN-71; SER-87; THR-169; TRP-351; THR-363 AND GLU-412; Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.
Lotery A.J.; Baas D.; Ridley C.; Jones R.P.; Klaver C.C.; Stone E.; Nakamura T.; Luff A.; Griffiths H.; Wang T.; Bergen A.A.; Trump D.;
Hum. Mutat. 27:568-574(2006)
Cited for: VARIANTS ARMD3 LEU-60; GLN-71; SER-87; PRO-124; THR-169; SER-267; TRP-351; THR-363 AND GLU-412; CHARACTERIZATION OF VARIANTS ARMD3 LEU-60; GLN-71; SER-87; PRO-124; THR-169; SER-267; TRP-351; THR-363 AND GLU-412; VARIANTS ARCL1A ARG-217 AND PRO-227; CHARACTERIZATION OF VARIANTS ARCL1A ARG-217 AND PRO-227; VARIANTS MET-126 AND ARG-202; SUBCELLULAR LOCATION; Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa.
Jones R.P.; Ridley C.; Jowitt T.A.; Wang M.C.; Howard M.; Bobola N.; Wang T.; Bishop P.N.; Kielty C.M.; Baldock C.; Lotery A.J.; Trump D.;
Invest. Ophthalmol. Vis. Sci. 51:2356-2362(2010)
Cited for: CHARACTERIZATION OF VARIANTS MET-126 AND ARG-202; CHARACTERIZATION OF VARIANTS ARMD3 LEU-60; GLN-71; SER-87; PRO-124; THR-169; SER-267; TRP-351 AND GLU-412; CHARACTERIZATION OF VARIANTS ARCL1A ARG-217 AND PRO-227; SUBUNIT;
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.