UniProtKB/Swiss-Prot O95905 : Variant p.Asn501Ser
Protein ecdysoneless homolog
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Variant information
Variant position:
501
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:
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:
501 (N501S, p.Asn501Ser).
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:
The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:
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).following page
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
501
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:
644
The length of the canonical sequence.
Location on the sequence:
N ESDSDDLDDEDFECLDSDDD
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 ITFDAD-----------SFLNYFDKILGPRP--N ESDSDDLD-DEDFECLDSDDD
Mouse ITFDAD-----------SFLNYFDKILGAKP--Q ESDSEDD
Drosophila PQANGSTGLTAKVKKNPSMRKACQRNSVIQP--E EPDSTHV
Slime mold YGNGGDDNISFDSNKFMDILKGFTDNNKYDDDYD DDDDDDD
Fission yeast YGVKNS-----------------DTDTDSDSLAD SDDEIFL
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 – 644 Protein ecdysoneless homolog
Region
439 – 644 Transcription activation
Region
496 – 537 Disordered
Modified residue
503 – 503 Phosphoserine
Modified residue
505 – 505 Phosphoserine
Modified residue
518 – 518 Phosphoserine
Mutagenesis
481 – 481 I -> A. Decreases transactivation activity.
Mutagenesis
484 – 484 D -> F. Decreases transactivation activity.
Mutagenesis
489 – 489 L -> A. Decreases transactivation activity.
Mutagenesis
503 – 503 S -> A. Greatly impairs in vitro phosphorylation by CK2 and impairs cell cycle regulation activity; when associated with A-505, A-518, A-572, A-579 and A-584.
Mutagenesis
505 – 505 S -> A. Greatly impairs in vitro phosphorylation by CK2 and impairs cell cycle regulation activity; when associated with A-503, A-518, A-572, A-579 and A-584.
Mutagenesis
510 – 510 D -> R. Increases transactivation activity.
Mutagenesis
512 – 512 D -> R. Increases transactivation activity.
Mutagenesis
518 – 518 S -> A. Greatly impairs in vitro phosphorylation by CK2 and impairs cell cycle regulation activity; when associated with A-503, A-505, A-572, A-579 and A-584.
Mutagenesis
520 – 520 D -> P. Increases transactivation activity.
Literature citations
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.
