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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99972: Variant p.Gly364Val

Myocilin
Gene: MYOC
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Variant information Variant position: help 364
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Valine (V) at position 364 (G364V, p.Gly364Val).
Physico-chemical properties: help Change from glycine (G) to medium size and hydrophobic (V)
BLOSUM score: help -3
Variant description: help In GLC1A.
Other resources: help


Sequence information Variant position: help 364
Protein sequence length: help 504
Location on the sequence: help VIRYELNTETVKAEKEIPGA G YHGQFPYSWGGYTDIDLAVD
Residue conservation: help
Human                         VIRYELNTETVKAEKEIPGA------GYHGQFPYSWGGYTDIDLAVD

                              VVRYELTAETVKAEREIPGA------GYHGQFPYSWGGYTD

Mouse                         VVRYELDTETVKAEKEIPGA------GYHGHFPYAWGGYTD

Rat                           VLRYELNTETVKAEKEIPGA------GYHGQFPYAWGGYTD

Bovine                        VLRYDLRTETLKAEKEIPGA------GYHGQFPYSWGGYTD

Rabbit                        VIRFELNTETVKAEKEIPGA------GYRGQFPYSWGGYTD

Cat                           VIRYELNTETVKAEKEIPGA------GYHGQFPYSWGGYTD

Slime mold                    AVTTEFKTELVALINKQKGTTLAVNFGQSIQYFKKKGSNNT

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



Literature citations
Identification of a gene that causes primary open angle glaucoma.
Stone E.M.; Fingert J.H.; Alward W.L.M.; Nguyen T.D.; Polansky J.R.; Sunden S.L.F.; Nishimura D.; Clark A.F.; Nystuen A.; Nichols B.E.; Mackey D.A.; Ritch R.; Kalenak J.W.; Craven E.R.; Sheffield V.C.;
Science 275:668-670(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]; VARIANTS GLC1A VAL-364 AND HIS-437;
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.