UniProtKB/Swiss-Prot O60437: Variant p.Arg819Ser

Periplakin
Gene: PPL
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Variant information Variant position:

819 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 Arginine (R) to Serine (S) at position 819 (R819S, p.Arg819Ser). 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 basic (R) to small size and polar (S) 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
Other resources:

Links to websites of interest for the variant.

Variant rs2734742 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1756 The length of the canonical sequence.
Location on the sequence:

KDYELEAEKLRSLLDLENGR R SHVSKRARLQSPATKVKEEE 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                         KDYELEAEKLRSLLDLENGRRSHVSKRARLQSPATKVKEEE

Mouse                         KDYELEAEKLRSLLDLENGRNSHVNKRARLQSPAAKVKEEE

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 – 1756	Periplakin
Repeat	733 – 861	Spectrin 4
Coiled coil	585 – 820

Literature citations
Periplakin, a novel component of cornified envelopes and desmosomes that belongs to the plakin family and forms complexes with envoplakin.
Ruhrberg C.; Hajibagheri M.A.N.; Parry D.A.D.; Watt F.M.;
J. Cell Biol. 139:1835-1849(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; TISSUE SPECIFICITY; SUBCELLULAR LOCATION; INDUCTION; INTERACTION WITH EVPL; VARIANTS GLN-589 AND SER-819; cDNA cloning, mRNA expression, and chromosomal mapping of human and mouse periplakin genes.
Aho S.; McLean W.H.I.; Li K.; Uitto J.;
Genomics 48:242-247(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; TISSUE SPECIFICITY; VARIANT SER-819; Human periplakin: genomic organization in a clonally unstable region of chromosome 16p with an abundance of repetitive sequence elements.
Aho S.; Rothenberger K.; Tan E.M.L.; Ryoo Y.W.; Cho B.H.; McLean W.H.I.; Uitto J.;
Genomics 56:160-168(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT SER-819; Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANTS GLN-589; SER-819 AND GLU-1573; 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]; VARIANTS GLN-589; SER-819 AND GLU-1573; Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
Nagase T.; Ishikawa K.; Miyajima N.; Tanaka A.; Kotani H.; Nomura N.; Ohara O.;
DNA Res. 5:31-39(1998)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 331-1756; VARIANTS GLN-589; SER-819 AND GLU-1573;

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.