Variant position: 445 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 504 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human SVA---------NAFIICGTLYTVSSYTS ADATVNFAYDTGTG------------------------------------ISKTLTI
Mouse SVA---------NAFVICGILYTVSSYSS AHATVNFAYDTK
Rat SVA---------NAFVICGILYTVSSYSS VHATINFAYDTN
Bovine SVA---------NAFIICGTLYTVSSYSS PDATVNFAYDTG
Rabbit SVA---------NAFIICGTLYTVSSYSS ADATVNFAYDTG
Cat SVA---------NAFIICGRLYTVSSYSA PDATINFAYDTG
Slime mold APAPGGAPMMKKPAPVPGGPAPGGSAIMK PAGGVSKPLPSP
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Structural basis for misfolding in myocilin-associated glaucoma.
Donegan R.K.; Hill S.E.; Freeman D.M.; Nguyen E.; Orwig S.D.; Turnage K.C.; Lieberman R.L.;
Hum. Mol. Genet. 24:2111-2124(2015)
Cited for: X-RAY CRYSTALLOGRAPHY (1.90 ANGSTROMS) OF 228-504 IN COMPLEX WITH CALCIUM; DISULFIDE BONDS; CHARACTERIZATION OF VARIANTS GLC1A LYS-293; ILE-353 AND VAL-445; CHARACTERIZATION OF VARIANTS MET-329; CYS-422; PRO-425 AND CYS-473;
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.
Vincent A.L.; Billingsley G.; Buys Y.; Levin A.V.; Priston M.; Trope G.; Williams-Lyn D.; Heon E.;
Am. J. Hum. Genet. 70:448-460(2002)
Cited for: VARIANTS GLC1A ARG-252; LYS-293; ARG-367; LEU-370; LYS-377; VAL-399 AND VAL-445; VARIANT ARG-398;
Founder TIGR/myocilin mutations for glaucoma in the Quebec population.
Faucher M.; Anctil J.-L.; Rodrigue M.-A.; Duchesne A.; Bergeron D.; Blondeau P.; Cote G.; Dubois S.; Bergeron J.; Arseneault R.; Morissette J.; Raymond V.;
Hum. Mol. Genet. 11:2077-2090(2002)
Cited for: VARIANTS GLC1A TRP-126; LYS-293; LYS-352; ARG-367; GLU-423; THR-427; VAL-445 AND LEU-481; VARIANTS LYS-76; GLU-77 AND ARG-398;
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.