UniProtKB/Swiss-Prot O60716: Variant p.Tyr217Cys

Catenin delta-1
Gene: CTNND1
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Variant information Variant position:

217 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Tyrosine (Y) to Cysteine (C) at position 217 (Y217C, p.Tyr217Cys). 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 aromatic (Y) to medium size and polar (C) 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
Other resources:

Links to websites of interest for the variant.

Variant rs11570194 [ dbSNP | Ensembl ]

Sequence information Variant position:

217 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

968 The length of the canonical sequence.
Location on the sequence:

AGTATLPRNFHYPPDGYSRH Y EDGYPGGSDNYGSLSRVTRI 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                         AGTATLPRNFHYPPDGYSRHY----EDGYPGGSDNYGSLSRVTRI

Mouse                         AGTATLPRNFHYPPDGYGRHY----EDGYPGGSDNYGSLSR

Xenopus laevis                ---TTVPRNYHFRGPGVDSTMPLISQSPHPG----YSSLSR

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 – 968	Catenin delta-1
Region	1 – 357	Necessary and sufficient for interaction with CCDC85B
Modified residue	217 – 217	Phosphotyrosine
Modified residue	221 – 221	Phosphotyrosine
Modified residue	225 – 225	Phosphoserine
Modified residue	228 – 228	Phosphotyrosine
Modified residue	230 – 230	Phosphoserine
Alternative sequence	1 – 323	Missing. In isoform 4ABC, isoform 4AB, isoform 4AC, isoform 4BC, isoform 4A, isoform 4B, isoform 4C and isoform 4.

Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS CYS-217; CYS-464 AND LYS-915;

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.