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UniProtKB/Swiss-Prot Q9NZR4: Variant p.Gly160Asp

Visual system homeobox 1
Gene: VSX1
Variant information

Variant position:  160
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 Aspartate (D) at position 160 (G160D, p.Gly160Asp).
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 acidic (D)
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 KTCN1; unknown pathological significance.
Any additional useful information about the variant.

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



Sequence information

Variant position:  160
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  365
The length of the canonical sequence.

Location on the sequence:   TSDEDSQSEDRNDLKASPTL  G KRKKRRHRTVFTAHQLEELE
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                         TSDEDSQSEDRNDLKASPTLGKRKKRRHRTVFTAHQLEELE

Mouse                         TSDGDSPSEEKNDPKMSLILGKRKKRRHRTVFTAHQLEELE

Bovine                        TSDEDSPSEDRSDRKASPAPSKRKKRRHRTVFTAHQLEELE

Chicken                       ASDEDSLSGDASELKMPASQIKRKKRRHRTVFTAHQLEELE

Xenopus laevis                ISDDDSILGDKNDLKASSAQSKRKKRRHRTVFTAHQLDELE

Zebrafish                     YSDDDCLSGDRNDGKNSGNSQKRKKRRHRTVFTSHQLEELE

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 – 365 Visual system homeobox 1
Region 113 – 167 Disordered
Alternative sequence 141 – 141 S -> SGNQARAFRSCPCPLGSEPRRGHRPSPHRTPGPSGPDLGGEPRARPRRGRGIRGAAPPAPCCILNPCLSSGVLFPQRCETATTWFRVEPFDETLGSSTTISRGPFFPPAPGASLRLWQLRGSGRPGPVVVTSSTEQ. In isoform 3.
Alternative sequence 144 – 365 Missing. In isoform 4.


Literature citations

VSX1: a gene for posterior polymorphous dystrophy and keratoconus.
Heon E.; Greenberg A.; Kopp K.K.; Rootman D.; Vincent A.L.; Billingsley G.; Priston M.; Dorval K.M.; Chow R.L.; McInnes R.R.; Heathcote G.; Westall C.; Sutphin J.E.; Semina E.; Bremner R.; Stone E.M.;
Hum. Mol. Genet. 11:1029-1036(2002)
Cited for: TISSUE SPECIFICITY; VARIANTS KTCN1 MET-159; ASP-160; TRP-166; ARG-244 AND ARG-247; VARIANT GLU-144;

VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation.
Bisceglia L.; Ciaschetti M.; De Bonis P.; Campo P.A.; Pizzicoli C.; Scala C.; Grifa M.; Ciavarella P.; Delle Noci N.; Vaira F.; Macaluso C.; Zelante L.;
Invest. Ophthalmol. Vis. Sci. 46:39-45(2005)
Cited for: VARIANTS KTCN1 PRO-17; ASP-160 AND ARG-247; VARIANT GLU-144;

Mutational screening of VSX1 in keratoconus patients from the European population.
Dash D.P.; George S.; O'Prey D.; Burns D.; Nabili S.; Donnelly U.; Hughes A.E.; Silvestri G.; Jackson J.; Frazer D.; Heon E.; Willoughby C.E.;
Eye 24:1085-1092(2010)
Cited for: VARIANT GLU-144; VARIANT KTCN1 ASP-160;

Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus.
De Bonis P.; Laborante A.; Pizzicoli C.; Stallone R.; Barbano R.; Longo C.; Mazzilli E.; Zelante L.; Bisceglia L.;
Mol. Vis. 17:2482-2494(2011)
Cited for: VARIANTS KTCN1 PRO-17; ASP-160; ARG-239 AND ARG-247; VARIANT GLU-144;

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.