UniProtKB/Swiss-Prot Q9NZR4 : Variant p.Pro247Arg
Visual system homeobox 1
Gene: VSX1
Feedback ?
Variant information
Variant position:
247
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 Proline (P) to Arginine (R) at position 247 (P247R, p.Pro247Arg).
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 medium size and hydrophobic (P) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:
-2
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; uncertain significance; also in a patient with retinal dysfunction.
Any additional useful information about the variant.
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
247
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:
GGSSVMAEYGLYGAMVRHCI
P LPDSVLNSAEGGLLGSCAPW
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 GGSSVMAEYGLYGAMVRHCIP LPDSVLNSAEGGLLGSCAPW
Mouse GGSSVMAEYGLYGAMVRHCIP LPDSVLNSADS-LQGSCAPW
Bovine GGSSVMAEYGLYGAMVRHCIP LPDSVLGSGEGGLLGSCAPW
Chicken GRSSVMAEYGLYGAMVRHSIP LPESIINSAKSGLVGSCAPW
Xenopus laevis GRSSVMAEYGLYGAMVRHSIP LPESIINSAKNGLVGSCAPW
Zebrafish GRSSVMAEYGLYGAMVRHSIP LPESIINSAKSGMMGSCAPW
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
1 – 365
Visual system homeobox 1
Domain
224 – 277
CVC
Alternative sequence
144 – 365
Missing. In isoform 4.
Alternative sequence
219 – 365
Missing. In isoform 6.
Alternative sequence
237 – 365
Missing. In isoform 7.
Alternative sequence
240 – 365
Missing. In isoform 2 and isoform 3.
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, 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.