Variant position: 471 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1159 The length of the canonical sequence.
Location on the sequence:
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: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human TELADVFSGVKPLTRVEKNE NLQAWFREISKQILSLNYDDS
Mouse TELADVFSGVKPLTRVEKNE NLQAWFREISKQILSLNYDDS
Xenopus tropicalis TELADVFSGVKPLTRVEKNE HLQAWFREIAKQIHSLNYDDS
Zebrafish MELAEVFSGVKPLTRVEKNE NLQAWFREISKQIESLNYEDS
Drosophila NELSEAFAGSRPLSKIEQNP QLQQWFGEVAGRLQKLELSRP
Slime mold VELSEYFSGEKALTRVKKNE NLQKWFGEISQKISQLDSTDS
Sequence annotation in neighborhood: 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.
Type Positions Description
1 – 1159 WASH complex subunit 5
Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.
Clemen C.S.; Tangavelou K.; Strucksberg K.H.; Just S.; Gaertner L.; Regus-Leidig H.; Stumpf M.; Reimann J.; Coras R.; Morgan R.O.; Fernandez M.P.; Hofmann A.; Muller S.; Schoser B.; Hanisch F.G.; Rottbauer W.; Blumcke I.; von Horsten S.; Eichinger L.; Schroder R.;
Cited for: SUBCELLULAR LOCATION; TISSUE SPECIFICITY; INTERACTION WITH VCP; FUNCTION; CHARACTERIZATION OF VARIANT SPG8 ASP-471;
The hereditary spastic paraplegia protein strumpellin: characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function.
Freeman C.; Seaman M.N.; Reid E.;
Biochim. Biophys. Acta 1832:160-173(2013)
Cited for: FUNCTION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS SPG8 ASP-471; PHE-619 AND PHE-626;
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.
Valdmanis P.N.; Meijer I.A.; Reynolds A.; Lei A.; MacLeod P.; Schlesinger D.; Zatz M.; Reid E.; Dion P.A.; Drapeau P.; Rouleau G.A.;
Am. J. Hum. Genet. 80:152-161(2007)
Cited for: VARIANTS SPG8 ASP-471; PHE-619 AND PHE-626; CHARACTERIZATION OF VARIANTS SPG8 PHE-619 AND PHE-626;
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.