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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P48449: Variant p.Tyr286Cys

Lanosterol synthase
Gene: LSS
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Variant information Variant position: help 286 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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 Tyrosine (Y) to Cysteine (C) at position 286 (Y286C, p.Tyr286Cys). 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 aromatic (Y) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 APMR4; uncertain significance. Any additional useful information about the variant.


Sequence information Variant position: help 286 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 732 The length of the canonical sequence.
Location on the sequence: help EDFASIDWLAQRNNVAPDEL Y TPHSWLLRVVYALLNLYEHH 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                         EDFASIDWLAQRNNVAPDELYTPHSWLLRVVYALLNLYEHH

Mouse                         QDYASIDWPAQRNNVSPDEMYTPHSWLLHVVYGLLNLYERF

Rat                           EDYASIDWPAQKNNVCPDDMYTPHSWLLHVVYGLLNLYERF

Bovine                        EDYSCIDWAAHRNSVAPDDLYTPHSWLLHVVYAILNLYERH

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 – 732 Lanosterol synthase



Literature citations
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
Besnard T.; Sloboda N.; Goldenberg A.; Kuery S.; Cogne B.; Breheret F.; Trochu E.; Conrad S.; Vincent M.; Deb W.; Balguerie X.; Barbarot S.; Baujat G.; Ben-Omran T.; Bursztejn A.C.; Carmignac V.; Datta A.N.; Delignieres A.; Faivre L.; Gardie B.; Gueant J.L.; Kuentz P.; Lenglet M.; Nassogne M.C.; Ramaekers V.; Schnur R.E.; Si Y.; Torti E.; Thevenon J.; Vabres P.; Van Maldergem L.; Wand D.; Wiedemann A.; Cariou B.; Redon R.; Lamaziere A.; Bezieau S.; Feillet F.; Isidor B.;
Genet. Med. 21:2025-2035(2019)
Cited for: INVOLVEMENT IN APMR4; VARIANTS APMR4 ASP-12; CYS-14; PRO-260; CYS-286; SER-516; 604-ARG--PRO-732 DEL; ILE-652 AND LYS-705;
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.