Sequence information
Variant position: 251 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:
SPSGYLRSGEGDTGCGELVW
V GEPLTLRTAETITGKYGVWM
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 SPSGYLRSGEG----------------------------------------DTGC--GELVWV GEPLT----------LRTAETITGKYGVWM
SPSGHPRNEEG------------------------------
Mouse NPSGRPRSKEG------------------------------
Rat NQSGHPRSKEG------------------------------
Bovine SPSGHPRNEEG------------------------------
Rabbit NPPVLPRGEEG------------------------------
Cat SPSGHPRSEEG------------------------------
Slime mold NDLKKPNILEGGRVLHQVKYLGLLDNIKVRRAGFAYRATFD
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.
Literature citations
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;
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.