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UniProtKB/Swiss-Prot P58304: Variant p.Arg200Gln

Visual system homeobox 2
Gene: VSX2
Variant information

Variant position:  200
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
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 Arginine (R) to Glutamine (Q) at position 200 (R200Q, p.Arg200Gln).
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 large size and basic (R) to medium size and polar (Q)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
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 MCOPCTI; loss of DNA binding capacity at consensus sequences; abnormal and prolonged expression of MITF and WLS; mislocalization of CTNNB1.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  200
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  361
The length of the canonical sequence.

Location on the sequence:   MLAMKTELPEDRIQVWFQNR  R AKWRKREKCWGRSSVMAEYG
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                         MLAMKTELPEDRIQVWFQNRRAKWRKREKCWGRSSVMAEYG

Mouse                         MLAMKTELPEDRIQVWFQNRRAKWRKREKCWGRSSVMAEYG

Chicken                       MLAMKTELPEDRIQVWFQNRRAKWRKREKCWGRSSVMAEYG

Zebrafish                     MLAMKTELPEDRIQVWFQNRRAKWRKREKCWGRSSVMAEYG

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.

TypePositionsDescription
Chain 1 – 361 Visual system homeobox 2
DNA binding 148 – 207 Homeobox
Mutagenesis 198 – 198 N -> A. Loss of SAG repressor activity. Loss of competitive inhibition of ISL1-LHX3 binding to common response elements.


Literature citations

Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.
Percin E.F.; Ploder L.A.; Yu J.J.; Arici K.; Horsford D.J.; Rutherford A.; Bapat B.; Cox D.W.; Duncan A.M.V.; Kalnins V.I.; Kocak-Altintas A.; Sowden J.C.; Traboulsi E.; Sarfarazi M.; McInnes R.R.;
Nat. Genet. 25:397-401(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS MCOPCTI GLN-200 AND PRO-200;

Negative regulation of Vsx1 by its paralog Chx10/Vsx2 is conserved in the vertebrate retina.
Clark A.M.; Yun S.; Veien E.S.; Wu Y.Y.; Chow R.L.; Dorsky R.I.; Levine E.M.;
Brain Res. 1192:99-113(2008)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANT MCOPCTI GLN-200;

Regulation of WNT Signaling by VSX2 During Optic Vesicle Patterning in Human Induced Pluripotent Stem Cells.
Capowski E.E.; Wright L.S.; Liang K.; Phillips M.J.; Wallace K.; Petelinsek A.; Hagstrom A.; Pinilla I.; Borys K.; Lien J.; Min J.H.; Keles S.; Thomson J.A.; Gamm D.M.;
Stem Cells 34:2625-2634(2016)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANT MCOPCTI GLN-200;

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.