UniProtKB/Swiss-Prot Q99972 : Variant p.Gly244Val
Myocilin
Gene: MYOC
Feedback ?
Variant information
Variant position:
244
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:
US
The variants are classified into three categories: LP/P, LB/B and US.LP/P: likely pathogenic or pathogenic. LB/B: likely benign or benign. US: uncertain significance
Residue change:
From Glycine (G) to Valine (V) at position 244 (G244V, p.Gly244Val).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:
Change from glycine (G) to medium size and hydrophobic (V)
The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:
-3
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another: Lowest score: -4 (low probability of substitution).Highest score: 11 (high probability of substitution). More information can be found on the following page
Variant description:
In GLC1A; uncertain significance.
Any additional useful information about the variant.
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
244
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:
ASRILKESPSGYLRSGEGDT
G CGELVWVGEPLTLRTAETIT
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 AS---------RILKESPSGYLRSGEG----------------------------------------DTG C--GELVWVGEPLT----------LRTAETIT
AS---------RILKESPSGHPRNEEG--------------
Mouse AS---------QILKENPSGRPRSKEG--------------
Rat AS---------QILK-NQSGHPRSKEG--------------
Bovine AS---------QILKESPSGHPRNEEG--------------
Rabbit AS---------RILKENPPVLPRGEEG--------------
Cat AS---------RILKESPSGHPRSEEG--------------
Slime mold ATLMKSTPHYIRTIKPNDLKKPNILEGGRVLHQVKYLGLLD
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.
Type Positions Description
Chain
33 – 504
Myocilin
Chain
227 – 504
Myocilin, C-terminal fragment
Domain
244 – 503
Olfactomedin-like
Mutagenesis
226 – 226
R -> A. Reduced processing. Impairs endoproteolytic processing; when associated with A-229 or A-230. Completely processed after 6 days of expression, and releases a C-terminal fragment with similar electrophoretic mobility to that obtained by processing wild-type myocilin; when associated with A-229 or A-230.
Mutagenesis
226 – 226
R -> Q. Slightly increases endoproteolytic processing.
Mutagenesis
227 – 227
I -> G. Reduced processing.
Mutagenesis
229 – 229
K -> A. Completely blocks endoproteolytic processing; when associated with A-226. Completely processed after 6 days of expression, and releases a C-terminal fragment with similar electrophoretic mobility to that obtained by processing wild-type myocilin; when associated with A-226.
Mutagenesis
230 – 230
E -> A. Impairs endoproteolytic processing; when associated with A-226. Completely processed after 6 days of expression, and released a C-terminal fragment with similar electrophoretic mobility to that obtained by processing wild-type myocilin; when associated with A-226.
Literature citations
Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals.
Hewitt A.W.; Bennett S.L.; Richards J.E.; Dimasi D.P.; Booth A.P.; Inglehearn C.; Anwar R.; Yamamoto T.; Fingert J.H.; Heon E.; Craig J.E.; Mackey D.A.;
Arch. Ophthalmol. 125:98-104(2007)
Cited for: VARIANTS GLC1A VAL-244 AND ARG-252;
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.