UniProtKB/Swiss-Prot Q9BRX2: Variant p.Leu221Met

Protein pelota homolog
Gene: PELO
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Variant information Variant position:

221 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 Leucine (L) to Methionine (M) at position 221 (L221M, p.Leu221Met). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. 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 rs1499280 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

VVKCILVASPGFVREQFCDY L FQQAVKTDNKLLLENRSKFL 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                         VVKCILVASPGFVREQFCDYLFQQAVKTDNKLLLENRSKFL

Mouse                         VVKCVLVASPGFVREQFCDYMFQQAVKTDNKVLLENRSKFL

Rat                           VVKCILVASPGFVREQFCDYMFQQAVKTDNKVLLENRSKFL

Bovine                        VVKCVLVASPGFVREQFCDYMFQQAVKTDNKVLLENRSKFL

Chicken                       VVKCVLVASPGFVREQFCDYMFQQAVKTDNKLLLENRSKFL

Xenopus laevis                VVKVVLVASPGFVREQFCEFLFLRAVKQDLKILLENRGKFL

Zebrafish                     VVKCILVASPGFVKDQFISYLFKEAVRQDCKLLLENRSKFM

Caenorhabditis elegans        VVKCVIVASRGFVKDAFMQHLIAHADANGKKFTTEQRAKFM

Drosophila                    VVKCVLIASPGFVRDQFYDYMFQQAVKMDYKLLLDNKSKFM

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 – 385	Protein pelota homolog

Literature citations
Molecular cloning, expression and chromosome location of the human pelota gene PELO.
Shamsadin R.; Adham I.M.; von Beust G.; Engel W.;
Cytogenet. Cell Genet. 90:75-78(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; TISSUE SPECIFICITY; VARIANT MET-221; Gene structure prediction and evidence of alternative splicing in the human pelota gene.
Shamsadin R.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT MET-221; Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.
Lai C.-H.; Chou C.-Y.; Ch'ang L.-Y.; Liu C.-S.; Lin W.-C.;
Genome Res. 10:703-713(2000)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT MET-221; 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]; VARIANT MET-221;

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.