UniProtKB/Swiss-Prot P14923: Variant p.Thr19Ile

Junction plakoglobin
Gene: JUP
Feedback?

Variant information Variant position:

19 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 Threonine (T) to Isoleucine (I) at position 19 (T19I, p.Thr19Ile). 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 (T) to medium size and hydrophobic (I) 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 ARVD12; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs570878629 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

MEVMNLMEQPIKVTEWQQ T YTYDSGIHSGANTCVPSVSS 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                         MEVMNLMEQPIKVTEWQQTYTYDSGIHSGANTCVPSVSS

Mouse                         MEVMNLIEQPIKVTEWQQTYTYDSGIHSGVNTCVPSVSS

Rat                           MEVMNLIEQPIKVTEWQQTYTYDSGIHSGVNTCVPSVSS

Pig                           MEVMNLIEQPIKVTEWQQTYTYDSGIHSGANTCVPSVSS

Bovine                        MEVMNLIEQPIKVTEWQQTYTYDSGIHSGANTCVPSLSS

Xenopus laevis                MDLGDVVEMPMKVTEWQKTYTYDSGINSGINTSVPSLNG

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 – 745	Junction plakoglobin
Modified residue	1 – 1	N-acetylmethionine
Glycosylation	14 – 14	O-linked (GlcNAc) threonine
Mutagenesis	14 – 14	T -> A. Abolishes glycosylation. Does not affect binding to CDH1, DSC1 or DSG1.
Mutagenesis	19 – 19	T -> A. Reduces glycosylation.
Mutagenesis	21 – 21	T -> A. Does not affect glycosylation.
Mutagenesis	24 – 24	S -> A. Does not affect glycosylation.
Mutagenesis	28 – 28	S -> A. Does not affect glycosylation.
Mutagenesis	32 – 32	T -> A. Does not affect glycosylation.

Literature citations
Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
den Haan A.D.; Tan B.Y.; Zikusoka M.N.; Llado L.I.; Jain R.; Daly A.; Tichnell C.; James C.; Amat-Alarcon N.; Abraham T.; Russell S.D.; Bluemke D.A.; Calkins H.; Dalal D.; Judge D.P.;
Circ. Cardiovasc. Genet. 2:428-435(2009)
Cited for: VARIANT ARVD12 ILE-19; VARIANTS HIS-142; ILE-648 AND LEU-697;

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.