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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NZC9: Variant p.Arg764Gln

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1
Gene: SMARCAL1
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Variant information Variant position: help 764 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 764 (R764Q, p.Arg764Gln). 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 SIOD; abolishes annealing helicase activity; no effect on specific binding to fork DNA; no effect on recruitment to sites of DNA damage. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 764 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 954 The length of the canonical sequence.
Location on the sequence: help ELERKHVQHIRIDGSTSSAE R EDLCQQFQLSERHAVAVLSI 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                         ELERKHVQHIRIDGSTSSAEREDLCQQFQLSERHAVAVLSI

Mouse                         ELERKNVQHIRIDGSTPSADREAQCQRFQLSKGHTVALLSI

Rat                           ELERKNVQHIRIDGSTPSADREDLCQQFQLSKGHTVAVLSI

Bovine                        ELERKRVQHIRIDGSTSSADRETSASSFS-CPRALRGVLSI

Xenopus laevis                ELGKKEVPYIRIDGNTSSADRQSLCHKFQFSEKSCVAVLSI

Xenopus tropicalis            ELGKKDVPYIRIDGNTSSADRQSLCHKFQMSEKSCVAVLSI

Zebrafish                     ELGEKSISFIRIDGSTPSAERQLLCERFQASQQSCVAVLSI

Caenorhabditis elegans        EVNKRKLGSIRIDGKTPSHRRTALCDSFQTDDNIRVAVLSI

Drosophila                    FLSGLKVHYIRIDGQTRSDHRSDSVDTFQKKSSCKVALLSL

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 2 – 954 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1
Domain 716 – 869 Helicase C-terminal



Literature citations
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.
Boerkoel C.F.; Takashima H.; John J.; Yan J.; Stankiewicz P.; Rosenbarker L.; Andre J.-L.; Bogdanovic R.; Burguet A.; Cockfield S.; Cordeiro I.; Frund S.; Illies F.; Joseph M.; Kaitila I.; Lama G.; Loirat C.; McLeod D.R.; Milford D.V.; Petty E.M.; Rodrigo F.; Saraiva J.M.; Schmidt B.; Smith G.C.; Spranger J.; Stein A.; Thiele H.; Tizard J.; Weksberg R.; Lupski J.R.; Stockton D.W.;
Nat. Genet. 30:215-220(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; TISSUE SPECIFICITY; VARIANTS SIOD PRO-468; ASN-548; LEU-579; TRP-586; TRP-644; CYS-645; GLN-647; THR-647; ILE-705; GLN-764 AND HIS-820; The SIOD disorder protein SMARCAL1 is an RPA-interacting protein involved in replication fork restart.
Ciccia A.; Bredemeyer A.L.; Sowa M.E.; Terret M.E.; Jallepalli P.V.; Harper J.W.; Elledge S.J.;
Genes Dev. 23:2415-2425(2009)
Cited for: FUNCTION IN DNA REPLICATION; INTERACTION WITH RPA2 AND THE RPA COMPLEX; REGION; SUBCELLULAR LOCATION; MUTAGENESIS OF 17-ARG--LYS-19; CHARACTERIZATION OF VARIANTS SIOD TRP-586 AND GLN-764; HARP is an ATP-driven annealing helicase.
Yusufzai T.; Kadonaga J.T.;
Science 322:748-750(2008)
Cited for: CHARACTERIZATION OF VARIANTS SIOD TRP-586 AND GLN-764; FUNCTION; DNA-BINDING;
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.