Variant position: 256 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1032 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 SEKVSKTGAEGAVLDEAKNI NKSLSALGNVISALAEGTKSY
Mouse SEKVSKTGAEGAVLDEAKNI NKSLSALGNVISALAEGTKSY
Rat SEKVSKTGAEGAVLDEAKNI NKSLSALGNVISALAEGTKSY
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
2 – 1032 Kinesin heavy chain isoform 5A
9 – 327 Kinesin motor
174 – 315 Microtubule-binding
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).
Reid E.; Kloos M.; Ashley-Koch A.; Hughes L.; Bevan S.; Svenson I.K.; Graham F.L.; Gaskell P.C.; Dearlove A.; Pericak-Vance M.A.; Rubinsztein D.C.; Marchuk D.A.;
Am. J. Hum. Genet. 71:1189-1194(2002)
Cited for: VARIANT SPG10 SER-256;
Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity.
Ebbing B.; Mann K.; Starosta A.; Jaud J.; Schoels L.; Schuele R.; Woehlke G.;
Hum. Mol. Genet. 17:1245-1252(2008)
Cited for: VARIANT ASN-253; CHARACTERIZATION OF VARIANT ASN-253; CHARACTERIZATION OF VARIANTS SPG10 SER-256 AND VAL-361; MUTAGENESIS OF ARG-280;
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.