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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99972: Variant p.Arg82His

Myocilin
Gene: MYOC
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Variant information Variant position: help 82
Type of variant: help LB/B
Residue change: help From Arginine (R) to Histidine (H) at position 82 (R82H, p.Arg82His).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (H)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 82
Protein sequence length: help 504
Location on the sequence: help PEQSQAMSVIHNLQRDSSTQ R LDLEATKARLSSLESLLHQL
Residue conservation: help 
Human                         PEQSQAMSVI--------------HNLQRDSST-----------QRLDLEATKARLSSLES--LLHQL----------

                              PEQGQAMSAI--------------QDLQRD-----------

Mouse                         PREDQAMSAI--------------QDLQRDSSI--------

Rat                           PREDQAMSAI--------------QDLQRDSSI--------

Bovine                        PEQGQAMLAI--------------QELQRDSSE--------

Rabbit                        PEQGQTMSAI--------------QDLQRDSST--------

Cat                           PEQGQAMSAI--------------QDLQRDSSA--------

Slime mold                    NQKVEHVKSIILETNPLLEAFGNAKTLRNNNSSRFGKYFEI
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 33 – 504 Myocilin
Chain 33 – 226 Myocilin, N-terminal fragment
Coiled coil 74 – 184



Literature citations
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations.
Fingert J.H.; Heon E.; Liebmann J.M.; Yamamoto T.; Craig J.E.; Rait J.; Kawase K.; Hoh S.-T.; Buys Y.M.; Dickinson J.; Hockey R.R.; Williams-Lyn D.; Trope G.; Kitazawa Y.; Ritch R.; Mackey D.A.; Alward W.L.M.; Sheffield V.C.; Stone E.M.;
Hum. Mol. Genet. 8:899-905(1999)
Cited for: VARIANTS GLC1A SER-4; SER-9; ARG-393; CYS-422; MET-465; LEU-481; THR-481; ILE-495 AND ARG-500; VARIANTS SER-73; HIS-82; GLN-189 AND PHE-203;
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.