Variant position: 361 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 QWKKKYEKEKEKTKAQKETI AKLEAELSRWRNGENVPETER
Mouse QWKKKYEKEKEKTKAQKETI AKLEAELSRWRNGENVPETER
Rat QWKKKYEKEKEKTKAQKETI AKLEAELSRWRNGENVPETER
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
271 – 361 Necessary for interaction with ZFYVE27
353 – 1032 Interaction with BICD2
331 – 906
A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia.
Lo Giudice M.; Neri M.; Falco M.; Sturnio M.; Calzolari E.; Di Benedetto D.; Fichera M.;
Arch. Neurol. 63:284-287(2006)
Cited for: VARIANT SPG10 VAL-361;
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.