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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99972: Variant p.Gly367Arg

Myocilin
Gene: MYOC
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Variant information Variant position: help 367
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Arginine (R) at position 367 (G367R, p.Gly367Arg).
Physico-chemical properties: help Change from glycine (G) to large size and basic (R)
BLOSUM score: help -2
Variant description: help In GLC1A.
Other resources: help


Sequence information Variant position: help 367
Protein sequence length: help 504
Location on the sequence: help YELNTETVKAEKEIPGAGYH G QFPYSWGGYTDIDLAVDEAG
Residue conservation: help 
Human                         YELNTETVKAEKEIPGA------GYHGQFPYSWGGYTDIDLAVDE---------------AG

                              YELTAETVKAEREIPGA------GYHGQFPYSWGGYTDIDL

Mouse                         YELDTETVKAEKEIPGA------GYHGHFPYAWGGYTDIDL

Rat                           YELNTETVKAEKEIPGA------GYHGQFPYAWGGYTDIDL

Bovine                        YDLRTETLKAEKEIPGA------GYHGQFPYSWGGYTDIDL

Rabbit                        FELNTETVKAEKEIPGA------GYRGQFPYSWGGYTDIDL

Cat                           YELNTETVKAEKEIPGA------GYHGQFPYSWGGYTDIDL

Slime mold                    TEFKTELVALINKQKGTTLAVNFGQSIQYFKKKGSNNTVTF
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 33 – 504 Myocilin
Chain 227 – 504 Myocilin, C-terminal fragment
Domain 244 – 503 Olfactomedin-like
Binding site 380 – 380
Disulfide bond 245 – 433
Beta strand 366 – 369



Literature citations
Mutations in the TIGR gene in familial primary open-angle glaucoma in Japan.
Suzuki Y.; Shirato S.; Taniguchi F.; Ohara K.; Nishimaki K.; Ohta S.;
Am. J. Hum. Genet. 61:1202-1204(1997)
Cited for: VARIANTS GLC1A ARG-367 AND LEU-370; Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysis.
Michels-Rautenstrauss K.G.; Mardin C.Y.; Budde W.M.; Liehr T.; Polansky J.R.; Nguyen T.; Timmerman V.; van Broeckhoven C.; Naumann G.O.H.; Pfeiffer R.A.; Rautenstrauss B.W.;
Hum. Genet. 102:103-106(1998)
Cited for: VARIANTS GLC1A ARG-367 AND LEU-370; Novel mutations in the TIGR gene in early and late onset open angle glaucoma.
Mansergh F.C.; Kenna P.F.; Ayuso C.; Kiang A.-S.; Humphries P.; Farrar G.J.;
Hum. Mutat. 11:244-251(1998)
Cited for: VARIANTS GLC1A ARG-367 AND PHE-426; 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; Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients.
Michels-Rautenstrauss K.; Mardin C.; Wakili N.; Juenemann A.M.; Villalobos L.; Mejia C.; Soley G.C.; Azofeifa J.; Oezbey S.; Naumann G.O.H.; Reis A.; Rautenstrauss B.;
Hum. Mutat. 20:479-480(2002)
Cited for: VARIANTS GLC1A ALA-251; MET-345; ARG-367; LEU-370; ASN-393; SER-434; ASP-450 AND CYS-470; VARIANT LYS-76; Myocilin analysis by DHPLC in French POAG patients: increased prevalence of Q368X mutation.
Melki R.; Belmouden A.; Brezin A.; Garchon H.-J.;
Hum. Mutat. 22:179-179(2003)
Cited for: VARIANTS GLC1A ARG-367; ILE-438; LYS-480 AND PHE-499; VARIANTS SER-57; LYS-76 AND ARG-398;
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.