Home  |  Contact

UniProtKB/Swiss-Prot Q9BU40: Variant p.Cys260Phe

Chordin-like protein 1
Gene: CHRDL1
Variant information

Variant position:  260
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Cysteine (C) to Phenylalanine (F) at position 260 (C260F, p.Cys260Phe).
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 polar (C) to large size and aromatic (F)
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

Involvement in disease:  Megalocornea 1, X-linked (MGC1) [MIM:309300]: An eye disorder in which the corneal diameter is bilaterally enlarged (greater than 13 mm) without an increase in intraocular pressure. It may also be referred to as anterior megalophthalmos, since the entire anterior segment is larger than normal. Features of megalocornea in addition to a deep anterior chamber include astigmatic refractive errors, atrophy of the iris stroma, miosis secondary to decreased function of the dilator muscle, iridodonesis, and tremulousness, subluxation, or dislocation of the lens. Whereas most affected individuals exhibit normal ocular function, complications include cataract development and glaucoma following lenticular dislocation or subluxation. {ECO:0000269|PubMed:22284829}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In MGC1.
Any additional useful information about the variant.

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



Sequence information

Variant position:  260
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  456
The length of the canonical sequence.

Location on the sequence:   QASGTIVQIVINNKHKHGQV  C VSNGKTYSHGESWHPNLRAF
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                         QASGTIVQIVINNKHKHGQVCVSNGKTYSHGESWHPNLRAF

Mouse                         QASGTIVQIVINNKHKHGQVCVSNGKTYSHGESWHPNLRAF

Rat                           QASGTIVQIVINNKHKHGQVCVSNGKTYSHGESWHPNLRAF

Chicken                       QASGTIVQIVINNKHKHGRVCVSNGKTYSHGESWHPNLRAF

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 28 – 456 Chordin-like protein 1
Domain 258 – 323 VWFC 3


Literature citations

X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.
Webb T.R.; Matarin M.; Gardner J.C.; Kelberman D.; Hassan H.; Ang W.; Michaelides M.; Ruddle J.B.; Pennell C.E.; Yazar S.; Khor C.C.; Aung T.; Yogarajah M.; Robson A.G.; Holder G.E.; Cheetham M.E.; Traboulsi E.I.; Moore A.T.; Sowden J.C.; Sisodiya S.M.; Mackey D.A.; Tuft S.J.; Hardcastle A.J.;
Am. J. Hum. Genet. 90:247-259(2012)
Cited for: FUNCTION; TISSUE SPECIFICITY; VARIANT MGC1 PHE-260;

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.