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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96HC4: Variant p.Ser319Leu

PDZ and LIM domain protein 5
Gene: PDLIM5
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Variant information Variant position: help 319
Type of variant: help LB/B
Residue change: help From Serine (S) to Leucine (L) at position 319 (S319L, p.Ser319Leu).
Physico-chemical properties: help Change from small size and polar (S) to medium size and hydrophobic (L)
BLOSUM score: help -2
Other resources: help


Sequence information Variant position: help 319
Protein sequence length: help 596
Location on the sequence: help EADNTKKANNSQEPSPQLAS S VASTRSMPESLDSPTSGRPG
Residue conservation: help 
Human                         EADNTKKANNSQEPSPQLASSVASTRSMPESLDSPTSGRPG

Mouse                         ENDNTKKANSTQEPSQQPASSGASPLSASEGPESPGSSRPS

Rat                           ENDNAKKANSTPEPSQQ----SASPLSAAESLESPGSNRPV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 596 PDZ and LIM domain protein 5
Region 255 – 340 Disordered
Compositional bias 305 – 335 Polar residues
Modified residue 309 – 309 Phosphoserine
Modified residue 313 – 313 Phosphoserine
Modified residue 322 – 322 Phosphoserine
Alternative sequence 137 – 596 Missing. In isoform 5.
Alternative sequence 307 – 337 NNSQEPSPQLASSVASTRSMPESLDSPTSGR -> KEKIPLHVFSPKYTKLRDWHHEVSARALNVQ. In isoform 2 and isoform 3.
Alternative sequence 307 – 307 N -> KFDSALEDLPKSGPHPPATPQVLTIGSQVATLSKVATTYSSLSSSTGNVEDSFEGFRNFSTFSSPARYSAAVLSSAAATVSAVIATKTRLYTPERYHSLLDALCISPVSKPLAFSYLQSSRKSTGSIHVKKTS. In isoform 6.



Literature citations
Isolation, tissue expression, and chromosomal assignment of a human LIM protein gene, showing homology to rat enigma homologue (ENH).
Ueki N.; Seki N.; Yano K.; Masuho Y.; Saito T.; Muramatsu M.;
J. Hum. Genet. 44:256-260(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); TISSUE SPECIFICITY; VARIANTS LEU-319; THR-345 AND ASN-492; Suppression subtractive hybridization and expression profiling identifies a unique set of genes overexpressed in non-small-cell lung cancer.
Petroziello J.; Yamane A.; Westendorf L.; Thompson M.; McDonagh C.; Cerveny C.; Law C.-L.; Wahl A.; Carter P.;
Oncogene 23:7734-7745(2004)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS LEU-319; THR-345 AND ASN-492;
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.