UniProtKB/SwissProt variant VAR

Variant information

Variant position:

361

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

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:

From Alanine (A) to Valine (V) at position 361 (A361V, p.Ala361Val).

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:

Change from small size and hydrophobic (A) to medium size and hydrophobic (V)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

0

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:

In SPG10; does not affect microtubule affinity; does not affect gliding velocity; does not affect microtubule-dependent ATP turnover.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs121434444 [ dbSNP | Ensembl ]

Sequence information

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:

QWKKKYEKEKEKTKAQKETI A KLEAELSRWRNGENVPETER

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                         QWKKKYEKEKEKTKAQKETIAKLEAELSRWRNGENVPETER

Mouse                         QWKKKYEKEKEKTKAQKETIAKLEAELSRWRNGENVPETER

Rat                           QWKKKYEKEKEKTKAQKETIAKLEAELSRWRNGENVPETER

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
Chain	2 – 1032	Kinesin heavy chain isoform 5A
Region	271 – 361	Necessary for interaction with ZFYVE27
Region	353 – 1032	Interaction with BICD2
Coiled coil	331 – 906

Literature citations

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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q12840: Variant p.Ala361Val