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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99972: Variant p.Asp77Glu

Myocilin
Gene: MYOC
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Variant information Variant position: help 77
Type of variant: help LB/B
Residue change: help From Aspartate (D) to Glutamate (E) at position 77 (D77E, p.Asp77Glu).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and acidic.
BLOSUM score: help 2


Sequence information Variant position: help 77
Protein sequence length: help 504
Location on the sequence: help NESSCPEQSQAMSVIHNLQR D SSTQRLDLEATKARLSSLES
Residue conservation: help 
Human                         NESSCPEQSQAMSVI--------------HNLQRDSST-----------QRLDLEATKARLSSLES--

                              NESSCPEQGQAMSAI--------------QDLQRD------

Mouse                         NESSCPREDQAMSAI--------------QDLQRDSSI---

Rat                           SESSCPREDQAMSAI--------------QDLQRDSSI---

Bovine                        SESSCPEQGQAMLAI--------------QELQRDSSE---

Rabbit                        SESSCPEQGQTMSAI--------------QDLQRDSST---

Cat                           NESSCPEQGQAMSAI--------------QDLQRDSSA---

Slime mold                    RGSSSNQKVEHVKSIILETNPLLEAFGNAKTLRNNNSSRFG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 33 – 504 Myocilin
Chain 33 – 226 Myocilin, N-terminal fragment
Coiled coil 74 – 184
Glycosylation 57 – 57 N-linked (GlcNAc...) asparagine



Literature citations
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;
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.