UniProtKB/Swiss-Prot Q99972: Variant p.Gly244Val

Myocilin
Gene: MYOC
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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.

Variant rs757769997 [ dbSNP | Ensembl ]

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----------------------------------------DTGC--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.