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UniProtKB/Swiss-Prot P46100: Variant p.Cys200Ser

Transcriptional regulator ATRX
Gene: ATRX
Chromosomal location: Xq13.1-q21.1
Variant information

Variant position:  200
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Cysteine (C) to Serine (S) at position 200 (C200S, p.Cys200Ser).
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 medium size and polar (C) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
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

Involvement in disease:  Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]: A disorder characterized by severe psychomotor retardation, facial dysmorphism, urogenital abnormalities, and alpha-thalassemia. An essential phenotypic trait are hemoglobin H erythrocyte inclusions. {ECO:0000269|PubMed:10204841, ECO:0000269|PubMed:10417298, ECO:0000269|PubMed:10660327, ECO:0000269|PubMed:10995512, ECO:0000269|PubMed:12116232, ECO:0000269|PubMed:14990586, ECO:0000269|PubMed:16955409, ECO:0000269|PubMed:21421568, ECO:0000269|PubMed:7697714, ECO:0000269|PubMed:8968741, ECO:0000269|PubMed:9043863, ECO:0000269|PubMed:9326931}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In ATRX.
Any additional useful information about the variant.



Sequence information

Variant position:  200
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  2492
The length of the canonical sequence.

Location on the sequence:   HFQKDSIYRHPSLQVLICKN  C FKYYMSDDISRDSDGMDEQC
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                         HFQKDSIYRHPSLQVLICKNCFKYYMSDDISRDSDGMDEQC

Chimpanzee                    HFQKDSIYRHPSLQVLICKNCFKYYMSDDISRDSDGMDEQC

Mouse                         HFQKDSIYRHPSLKVLICKNCFKYYMSDDISRDSDGMDEQC

Caenorhabditis elegans        -----------------------------------------

Drosophila                    -----------------------------------------

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.

TypePositionsDescription
Chain 1 – 2492 Transcriptional regulator ATRX
Domain 159 – 296 ADD
Zinc finger 170 – 206 GATA-type; atypical
Modified residue 213 – 213 Phosphoserine
Alternative sequence 1 – 204 Missing. In isoform 1.
Mutagenesis 189 – 189 H -> N. Impairs interaction with histone H3 peptides and reduces localization to pericentromeric heterochromatin foci.
Mutagenesis 203 – 203 Y -> AK. Impairs interaction with histone H3 peptides trimethylated at 'Lys-10' (H3K9me3); loss of heterochromatic localization.
Mutagenesis 204 – 204 Y -> A. Impairs interaction with histone H3 peptides trimethylated at 'Lys-10' (H3K9me3) and reduces localization to pericentromeric heterochromatin foci.
Mutagenesis 207 – 207 D -> A. Impairs interaction with histone H3 peptides trimethylated at 'Lys-10' (H3K9me3) and reduces localization to pericentromeric heterochromatin foci.
Mutagenesis 209 – 209 I -> A. Impairs interaction with histone H3 peptides trimethylated at 'Lys-10' (H3K9me3).
Mutagenesis 214 – 214 D -> A. Impairs interaction with histone H3 peptides trimethylated at 'Lys-10' (H3K9me3).
Mutagenesis 217 – 217 D -> A. Impairs interaction with histone H3 peptides trimethylated at 'Lys-10' (H3K9me3); loss of heterochromatic localization.
Mutagenesis 218 – 218 E -> A. Impairs interaction with histone H3 peptides unmethylated at 'Lys-5' (H3K4me0); reduces pericentromeric localization.
Helix 198 – 206


Literature citations

No reference for the current variant in UniProtKB/Swiss-Prot.

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.