Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q12756: Variant p.Ser69Leu

Kinesin-like protein KIF1A
Gene: KIF1A
Feedback?
Variant information Variant position: help 69 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 Serine (S) to Leucine (L) at position 69 (S69L, p.Ser69Leu). 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 small size and polar (S) to medium size and hydrophobic (L) 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 SPG30. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 69 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1690 The length of the canonical sequence.
Location on the sequence: help SFSFDYSYWSHTSPEDINYA S QKQVYRDIGEEMLQHAFEGY 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                         SFSFDYSYWSHTSPEDINYASQKQVYRDIGEEMLQHAFEGY

Mouse                         SFSFDYSYWSHTSPEDINYASQKQVYRDIGEEMLQHAFEGY

Rat                           SFSFDYSYWSHTSPEDINYASQKQVYRDIGEEMLQHAFEGY

Drosophila                    RFNFDYSYWSHDH-HDADFSTQSMVYKDIGEEMLQHSFDGY

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 – 1690 Kinesin-like protein KIF1A
Domain 5 – 354 Kinesin motor



Literature citations
Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.
Ylikallio E.; Kim D.; Isohanni P.; Auranen M.; Kim E.; Loennqvist T.; Tyynismaa H.;
Eur. J. Hum. Genet. 23:1427-1430(2015)
Cited for: INVOLVEMENT IN SPG30; VARIANT SPG30 LEU-69; Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.
Citterio A.; Arnoldi A.; Panzeri E.; Merlini L.; D'Angelo M.G.; Musumeci O.; Toscano A.; Bondi A.; Martinuzzi A.; Bresolin N.; Bassi M.T.;
J. Neurol. 262:2684-2690(2015)
Cited for: INVOLVEMENT IN SPG30; VARIANTS SPG30 LEU-69; SER-102; CYS-167 AND THR-1026; Multigeneration family with dominant SPG30 hereditary spastic paraplegia.
Roda R.H.; Schindler A.B.; Blackstone C.;
Ann. Clin. Transl. Neurol. 4:821-824(2017)
Cited for: VARIANT SPG30 LEU-69; KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.
Pennings M.; Schouten M.I.; van Gaalen J.; Meijer R.P.P.; de Bot S.T.; Kriek M.; Saris C.G.J.; van den Berg L.H.; van Es M.A.; Zuidgeest D.M.H.; Elting M.W.; van de Kamp J.M.; van Spaendonck-Zwarts K.Y.; Die-Smulders C.; Brilstra E.H.; Verschuuren C.C.; de Vries B.B.A.; Bruijn J.; Sofou K.; Duijkers F.A.; Jaeger B.; Schieving J.H.; van de Warrenburg B.P.; Kamsteeg E.J.;
Eur. J. Hum. Genet. 28:40-49(2020)
Cited for: VARIANTS SPG30 THR-30; CYS-56; LEU-69; CYS-74; SER-78; ASN-106; HIS-167; PRO-173; ARG-252; MET-258; TRP-350; GLY-460; 623-GLN--VAL-1690 DEL; CYS-843; LYS-859 AND 1325-TYR--VAL-1690 DEL; KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement.
Nemani T.; Steel D.; Kaliakatsos M.; DeVile C.; Ververi A.; Scott R.; Getov S.; Sudhakar S.; Male A.; Mankad K.; Muntoni F.; Reilly M.M.; Kurian M.A.; Carr L.; Munot P.;
J. Peripher. Nerv. Syst. 25:117-124(2020)
Cited for: VARIANTS SPG30 GLN-11 AND LEU-69; VARIANTS NESCAVS PHE-186; LYS-253; TRP-254; PRO-307 AND PRO-323;
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.