UniProtKB/Swiss-Prot Q96HC4: Variant p.Ser319Leu

PDZ and LIM domain protein 5
Gene: PDLIM5
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Variant information Variant position:

319 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 Serine (S) to Leucine (L) at position 319 (S319L, p.Ser319Leu). 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 small size and polar (S) to medium size and hydrophobic (L) 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 rs1064238 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

EADNTKKANNSQEPSPQLAS S VASTRSMPESLDSPTSGRPG 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                         EADNTKKANNSQEPSPQLASSVASTRSMPESLDSPTSGRPG

Mouse                         ENDNTKKANSTQEPSQQPASSGASPLSASEGPESPGSSRPS

Rat                           ENDNAKKANSTPEPSQQ----SASPLSAAESLESPGSNRPV

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	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.