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UniProtKB/Swiss-Prot Q9NYQ6: Variant p.Cys1126Arg

Cadherin EGF LAG seven-pass G-type receptor 1
Gene: CELSR1
Variant information

Variant position:  1126
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
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 Arginine (R) at position 1126 (C1126R, p.Cys1126Arg).
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 basic (R)
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

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



Sequence information

Variant position:  1126
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  3014
The length of the canonical sequence.

Location on the sequence:   ILFNNYVTNKSNSFPTGVIG  C IPAHDPDVSDSLNYTFVQGN
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                         ILFNNYVTNKSNSFPTGVIGCIPAHDPDVSDSLNYTFVQGN

Mouse                         ILFNNYVTNKSNSFPSGVIGRIPAHDPDLSDSLNYTFLQGN

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 21 – 3014 Cadherin EGF LAG seven-pass G-type receptor 1
Topological domain 22 – 2469 Extracellular
Domain 1106 – 1224 Cadherin 9
Glycosylation 1114 – 1114 N-linked (GlcNAc...) asparagine
Glycosylation 1139 – 1139 N-linked (GlcNAc...) asparagine


Literature citations

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 627-3014 (ISOFORM 2); VARIANTS TRP-664 AND ARG-1126;

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.