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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8IX21: Variant p.Asn861Ile

SMC5-SMC6 complex localization factor protein 2
Gene: SLF2
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Variant information Variant position: help 861 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 Asparagine (N) to Isoleucine (I) at position 861 (N861I, p.Asn861Ile). 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 medium size and polar (N) to medium size and hydrophobic (I) 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 ATELS1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 861 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1173 The length of the canonical sequence.
Location on the sequence: help SDSPVWPWIPSLSDVAAVFF N MGIDFRSLFPLENLQPDFNE 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                         SDSPVWPWIPSLSDVAAVFFNMGIDFRSLFPLENLQPDFNE

Mouse                         SDSPVWPWIPSLSDIAAVFFNMGVGFGSLFPLETLQPDFNE

Zebrafish                     T-----VWVPSIRDITQVFLNMGASFISLFPLDVLQPPFTE
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 – 1173 SMC5-SMC6 complex localization factor protein 2
Region 635 – 1173 Interaction with SIMC1
Region 664 – 1166 NSE6-like domain
Region 702 – 1173 Required for interaction with SLF1 and RAD18
Alternative sequence 64 – 1173 Missing. In isoform 3.
Helix 852 – 862



Literature citations
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.
Grange L.J.; Reynolds J.J.; Ullah F.; Isidor B.; Shearer R.F.; Latypova X.; Baxley R.M.; Oliver A.W.; Ganesh A.; Cooke S.L.; Jhujh S.S.; McNee G.S.; Hollingworth R.; Higgs M.R.; Natsume T.; Khan T.; Martos-Moreno G.A.; Chupp S.; Mathew C.G.; Parry D.; Simpson M.A.; Nahavandi N.; Yueksel Z.; Drasdo M.; Kron A.; Vogt P.; Jonasson A.; Seth S.A.; Gonzaga-Jauregui C.; Brigatti K.W.; Stegmann A.P.A.; Kanemaki M.; Josifova D.; Uchiyama Y.; Oh Y.; Morimoto A.; Osaka H.; Ammous Z.; Argente J.; Matsumoto N.; Stumpel C.T.R.M.; Taylor A.M.R.; Jackson A.P.; Bielinsky A.K.; Mailand N.; Le Caignec C.; Davis E.E.; Stewart G.S.;
Nat. Commun. 13:6664-6664(2022)
Cited for: INVOLVEMENT IN ATELS1; TISSUE SPECIFICITY; INTERACTION WITH SLF1 AND RAD18; REGION; VARIANTS ATELS1 190-ARG--SER-1173 DEL; 815-SER--SER-1173 DEL AND ILE-861;
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.