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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
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Glutamine (Q) at position 2131 (R2131Q, p.Arg2131Gln).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (Q)
BLOSUM score: help 1
Variant description: help In MRXHF1 and ATRX; originally reported as Juberg-Marsidi syndrome.
Other resources: help


Sequence information Variant position: help 2131
Protein sequence length: help 2492
Location on the sequence: help RLFIISTKAGSLGINLVAAN R VIIFDASWNPSYDIQSIFRV
Residue conservation: help 
Human                         RLFIISTKAGSLGINLVAANRVIIFDASWNPSYDIQSIFRV

Chimpanzee                    RLFIISTKAGSLGINLVAANRVIIFDASWNPSYDIQSIFRV

Mouse                         RLFIISTKAGSLGINLVAANRVIIFDASWNPSYDIQSIFRV

Caenorhabditis elegans        RLMLISTRAGSLGTNMVAANRVIIFDACWNPSHDTQSLFRV

Drosophila                    RLFLISTRAGGLGINLVAANRVVIFDVSWNPSHDTQSIFRV
Sequence annotation in neighborhood: help
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.