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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O60437: Variant p.Arg589Gln

Periplakin
Gene: PPL
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Variant information Variant position: help 589
Type of variant: help LB/B
Residue change: help From Arginine (R) to Glutamine (Q) at position 589 (R589Q, p.Arg589Gln).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (Q)
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 589
Protein sequence length: help 1756
Location on the sequence: help EGEAFIQALPGSGTTPLLRT R VEDTNRKYEHLLQLLDLAQE
Residue conservation: help 
Human                         EGEAFIQALPGSGTTPLLRTRVEDTNRKYEHLLQLLDLAQE

Mouse                         ECEAFVQALPASGTAPLLKTRVEDTNQKYERLVWLLEAAQE
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1756 Periplakin
Repeat 505 – 612 Spectrin 3
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; 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.