UniProtKB/SwissProt variant VAR

Variant information

Variant position:

253

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 Lysine (K) to Asparagine (N) at position 253 (K253N, p.Lys253Asn).

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 large size and basic (K) to medium size and polar (N)

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; decreases microtubule affinity; reduces gliding velocity; reduces microtubule-dependent ATP turnover.

Any additional useful information about the variant.

Sequence information

Variant position:

253

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:

LAGSEKVSKTGAEGAVLDEA K NINKSLSALGNVISALAEGT

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                         LAGSEKVSKTGAEGAVLDEAKNINKSLSALGNVISALAEGT

Mouse                         LAGSEKVSKTGAEGAVLDEAKNINKSLSALGNVISALAEGT

Rat                           LAGSEKVSKTGAEGAVLDEAKNINKSLSALGNVISALAEGT

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
Domain	9 – 327	Kinesin motor
Region	174 – 315	Microtubule-binding

Literature citations

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;

SPG10 is a rare cause of spastic paraplegia in European families.
Schuele R.; Kremer B.P.H.; Kassubek J.; Auer-Grumbach M.; Kostic V.; Klopstock T.; Klimpe S.; Otto S.; Boesch S.; van de Warrenburg B.P.; Schoels L.;
J. Neurol. Neurosurg. Psych. 79:584-587(2008)
Cited for: VARIANTS SPG10 ASN-253 AND ASN-256 DEL;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q12840: Variant p.Lys253Asn