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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96H20: Variant p.Pro79Leu

Vacuolar-sorting protein SNF8
Gene: SNF8
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Variant information Variant position: help 79 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 Proline (P) to Leucine (L) at position 79 (P79L, p.Pro79Leu). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. 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 DEE115 and NEDOA; likely pathogenic. Any additional useful information about the variant.


Sequence information Variant position: help 79 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 258 The length of the canonical sequence.
Location on the sequence: help RKNPEFRVQFQDMCATIGVD P LASGKGFWSEMLGVGDFYYE 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                         RKNPEFRVQFQDMCATIGVDPLA---SGKGFWSEMLGVGDFYYE

Mouse                         RKNPEFRVQFQDMCATIGVDPLA---SGKGFWSEMLGVGDF

Rat                           RKNPEFRVQFQDMCATIGVDPLA---SGKGFWSEMLGVGDF

Xenopus tropicalis            RKNPQFRVQFQDMCATIGVDPLA---SGKGFWSEMLGVGDF

Zebrafish                     RKSSQFRVQFQEMCATIGVDPLA---SGKGFWSEMLGVGDF

Slime mold                    IKNPEFRKYFQDMCNMIGVDPLA---SNKGFWCQVLGVGDF

Baker's yeast                 QASPEFRSKFMHMCSSIGIDPLSLFDRDKHLFT----VNDF

Fission yeast                 KQNSQFRNTFVKLALKIGLDPFV-SGSDESAWAAV-GMNEF
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 – 258 Vacuolar-sorting protein SNF8



Literature citations
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
Brugger M.; Lauri A.; Zhen Y.; Gramegna L.L.; Zott B.; Sekulic N.; Fasano G.; Kopajtich R.; Cordeddu V.; Radio F.C.; Mancini C.; Pizzi S.; Paradisi G.; Zanni G.; Vasco G.; Carrozzo R.; Palombo F.; Tonon C.; Lodi R.; La Morgia C.; Arelin M.; Blechschmidt C.; Finck T.; Soerensen V.; Kreiser K.; Strobl-Wildemann G.; Daum H.; Michaelson-Cohen R.; Ziccardi L.; Zampino G.; Prokisch H.; Abou Jamra R.; Fiorini C.; Arzberger T.; Winkelmann J.; Caporali L.; Carelli V.; Stenmark H.; Tartaglia M.; Wagner M.;
Am. J. Hum. Genet. 111:594-613(2024)
Cited for: VARIANTS DEE115 LEU-79; 167-TYR--PRO-258 DEL; ASP-191 AND LEU-208; VARIANTS NEDOA LEU-79 AND ILE-102; CHARACTERIZATION OF VARIANT DEE115 167-TYR--PRO-258 DEL; CHARACTERIZATION OF VARIANT NEDOA ILE-102; INVOLVEMENT IN DEE115; INVOLVEMENT IN NEDOA; FUNCTION;
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.