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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q14683: Variant p.Arg711Trp

Structural maintenance of chromosomes protein 1A
Gene: SMC1A
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Variant information Variant position: help 711 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 Tryptophan (W) at position 711 (R711W, p.Arg711Trp). 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 large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 CDLS2. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 711 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1233 The length of the canonical sequence.
Location on the sequence: help AKRKEAELRQVQSQAHGLQM R LKYSQSDLEQTKTRHLALNL 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                         AKRKEAELRQVQSQAHGLQMRLKYSQSDLEQTKTRHLALNL

Mouse                         AKRKEAELRQVQSQAHGLQMRLKYSQSDLEQTKTRHLALNL

Rat                           AKRKEAELRQVQSQAHGLQMRLKYSQSDLEQTKTRHLALNL

Bovine                        AKRKEAELRQVQSQAHGLQMRLKYSQSDLEQTKTRHLALNL

Xenopus laevis                AKRKEAELRQVQSQAHGLQMRLKYSQSDLEQTKTRHLAMNM
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 – 1233 Structural maintenance of chromosomes protein 1A
Coiled coil 660 – 935
Modified residue 713 – 713 N6-acetyllysine



Literature citations
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation.
Deardorff M.A.; Kaur M.; Yaeger D.; Rampuria A.; Korolev S.; Pie J.; Gil-Rodriguez C.; Arnedo M.; Loeys B.; Kline A.D.; Wilson M.; Lillquist K.; Siu V.; Ramos F.J.; Musio A.; Jackson L.S.; Dorsett D.; Krantz I.D.;
Am. J. Hum. Genet. 80:485-494(2007)
Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; HIS-196; CYS-496; HIS-496; TRP-711; GLN-790 AND LEU-1122; SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.
Liu J.; Feldman R.; Zhang Z.; Deardorff M.A.; Haverfield E.V.; Kaur M.; Li J.R.; Clark D.; Kline A.D.; Waggoner D.J.; Das S.; Jackson L.G.; Krantz I.D.;
Hum. Mutat. 30:1535-1542(2009)
Cited for: VARIANTS CDLS2 58-VAL--ARG-62 DEL; VAL-133; LYS-141; HIS-196; LYS-268 DEL; SER-306 DEL; GLN-398; CYS-496; HIS-496; GLU-683 DEL; GLY-693; TRP-711; PHE-781; GLN-790; GLY-816; GLN-1049; LEU-1122 AND TRP-1123;
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.