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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P46100: Variant p.Arg2131Gln

Transcriptional regulator ATRX
Gene: ATRX
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Variant information Variant position: help 2131 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Arginine (R) to Glutamine (Q) at position 2131 (R2131Q, p.Arg2131Gln). 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: help Change from large size and basic (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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
Variant description: help In MRXHF1 and ATRX; originally reported as Juberg-Marsidi syndrome. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 2131 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2492 The length of the canonical sequence.
Location on the sequence: help RLFIISTKAGSLGINLVAAN R VIIFDASWNPSYDIQSIFRV 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         RLFIISTKAGSLGINLVAANRVIIFDASWNPSYDIQSIFRV

Chimpanzee                    RLFIISTKAGSLGINLVAANRVIIFDASWNPSYDIQSIFRV

Mouse                         RLFIISTKAGSLGINLVAANRVIIFDASWNPSYDIQSIFRV

Caenorhabditis elegans        RLMLISTRAGSLGTNMVAANRVIIFDACWNPSHDTQSLFRV

Drosophila                    RLFLISTRAGGLGINLVAANRVVIFDVSWNPSHDTQSIFRV
Sequence annotation in neighborhood: help 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 2025 – 2205 Helicase C-terminal
Region 2010 – 2280 Interaction with MECP2
Alternative sequence 1419 – 2492 Missing. In isoform 6.



Literature citations
ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.
Picketts D.J.; Higgs D.R.; Bachoo S.; Blake D.J.; Quarrell O.W.J.; Gibbons R.J.;
Hum. Mol. Genet. 5:1899-1907(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4 AND 5); VARIANT SER-1860; VARIANTS ATRX GLY-1538; ARG-1609; ARG-1614; ASN-1650; VAL-2035; HIS-2084; GLN-2131 AND CYS-2163; XNP mutation in a large family with Juberg-Marsidi syndrome.
Villard L.; Gecz J.; Mattei J.-F.; Fontes M.; Saugier-Veber P.; Munnich A.; Lyonnet S.;
Nat. Genet. 12:359-360(1996)
Cited for: VARIANT MRXHF1 GLN-2131;
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.