Variant position: 461 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 616 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 DEVDSLLCERREGEHDASRR LKTEFLIEFDGVQSAGD-DRVL
Mouse DEVDSLLCERREGEHDASRR LKTEFLIEFDGVQSAGD-DRV
Rat DEVDSLLCERREGEHDASRR LKTEFLIEFDGVQSAGD-DRV
Pig DEVDSLLRERREGEHDASRR LKTEFLIEFDGVQSAGD-DRV
Bovine DEVDSLLCERREGEHDASRR LKTEFLIEFDGVQSAGD-DRV
Chicken DEVDSLLCERREGEHDASRR LKTEFLIEFDGVQSSGE-DRI
Xenopus laevis DEVDSLLCERREGEHDASRR LKTEFLIEFDGVQSGGD-DRV
Xenopus tropicalis DEVDSLLCERREGEHDASRR LKTEFLIEFDGVQSGGD-DRV
Zebrafish DEIDSLLCERREGEHDASRR LKTEFLIEFDGVQSGGD-ERV
Caenorhabditis elegans DEIDSILCERSEKDAEVSRR MKTEFLVQFDGATSSAD-DRI
Drosophila DEVDSLLSERSSSEHEASRR LKTEFLVEFDGLPGNPDGDRI
Slime mold DEIDSLLTERSSNESEASRR LKTEILVQFDGARTNGD-ERV
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 – 616 Spastin
78 – 616 Cytoplasmic
228 – 616 Sufficient for microtubule severing
442 – 442 E -> Q. Abrogates ATP hydrolysis, abolishes microtubule severing, stabilizes the homohexameric form, and promotes microtubule binding and redistribution from the endosome to microtubules.
448 – 448 C -> AG. Abolishes ATPase activity.
448 – 448 C -> S. Does not affect ATPase activity.
451 – 451 R -> G. Abrogates binding to the tail of alpha-tubulin and beta-3-tubulin, impairs ATPase activity and abolishes microtubule severing.
457 – 457 A -> E. Abrogates binding to the tail of alpha-tubulin and beta-3-tubulin and abolishes microtubule severing.
High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia.
Lan M.Y.; Chang Y.Y.; Yeh T.H.; Lai S.C.; Liou C.W.; Kuo H.C.; Wu Y.R.; Lyu R.K.; Hung J.W.; Chang Y.C.; Lu C.S.;
BMC Neurol. 14:216-216(2014)
Cited for: VARIANTS SPG4 244-ASN--VAL-616 DEL; PRO-461; GLY-555 AND 581-ARG--VAL-616 DEL;
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.