UniProtKB/Swiss-Prot P62753 : Variant p.Lys221Arg
Small ribosomal subunit protein eS6
Gene: RPS6
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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 Lysine (K) to Arginine (R) at position 221 (K221R, p.Lys221Arg).
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 large size and basic.
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.
Sequence information
Variant position:
221
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:
249
The length of the canonical sequence.
Location on the sequence:
KNKEEAAEYAKLLAKRMKEA
K EKRQEQIAKRRRLSSLRAST
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.
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 – 249
Small ribosomal subunit protein eS6
Region
217 – 249
Disordered
Compositional bias
217 – 233
Basic and acidic residues
Modified residue
211 – 211
N6-acetyllysine
Modified residue
235 – 235
Phosphoserine; by RPS6KA1, RPS6KA3, DAPK1 and PASK
Modified residue
236 – 236
Phosphoserine; by RPS6KA1, RPS6KA3, DAPK1 and PASK
Modified residue
240 – 240
Phosphoserine
Turn
220 – 223
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]; VARIANT ARG-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.