UniProtKB/Swiss-Prot P50479: Variant p.Arg118Gly

PDZ and LIM domain protein 4
Gene: PDLIM4
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Variant information Variant position:

118 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 Glycine (G) at position 118 (R118G, p.Arg118Gly). 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 glycine (G) 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
Polymorphism:

Genetic variations in PDLIM4 may be correlated with bone mineral density (BMD). Low BMD is a risk factor for osteoporotic fracture. Osteoporosis is characterized by reduced bone mineral density, disruption of bone microarchitecture, and the alteration of the amount and variety of non-collagenous proteins in bone. Osteoporotic bones are more at risk of fracture. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs17851430 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

QAHRIHIDPEIQDGSPTTSR R PSGTGTGPEDGRPSLGSPYG 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                         QAHRIHIDPEIQDGSPTTSRR--PSGTGTGPEDGRPSLGSPYG

Mouse                         QAHRIHIDPESQDCSPATSRR--SSVSGISLEDNRSGLGSP

Rat                           QAHRIHIDPEAQDGSPATSRR--SSISGISLEDNRSGLGSP

Bovine                        QAHRIHIDSEAQDGSPLTSRR--PSATGLGPEDGRPGLGSP

Chicken                       QAYRINIEPEPQDNGPAVGKRPMPHAAGGSPVDSRPALSLQ

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 – 330	PDZ and LIM domain protein 4
Region	104 – 180	Disordered
Modified residue	112 – 112	Phosphoserine
Modified residue	116 – 116	Phosphoserine
Modified residue	120 – 120	Phosphoserine
Modified residue	135 – 135	Phosphoserine

Literature citations
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] (ISOFORMS 1 AND 2); VARIANT GLY-118;

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.