UniProtKB/SwissProt variant VAR

Variant information

Variant position:

329

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

Type of variant:

LB/B

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 Isoleucine (I) to Leucine (L) at position 329 (I329L, p.Ile329Leu).

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:

Similar physico-chemical property. Both residues are medium size and hydrophobic.

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

BLOSUM score:

2

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

Other resources:

Links to websites of interest for the variant.

Variant rs17117678 [ dbSNP | Ensembl ]

Sequence information

Variant position:

329

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

Protein sequence length:

524

The length of the canonical sequence.

Location on the sequence:

TGFLNSVTDIHQLSFLLGHE I AHAVLGHAAEKAGMVHLLDF

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                         TGFLNSVTDIHQLSFLLGHEIAHAVLGHAAEKAGMVHLLDF

Mouse                         TGLLNSVTDVHQLSFLLGHEIAHAVLGHAAEKASLVHLLDF

Rat                           TGLLNSVTDMHQLSFLLGHEIAHAVLGHAAEKASLVHLLDF

Bovine                        TGLLNSVTDIHQLSFLLGHEIAHAVLEHAAEKASLVHLLDF

Zebrafish                     TGMLNAVTDIHQLTFILGHEMAHALIGHAAEQASLSHVVEL

Baker's yeast                 SSILPICANDDGIATVLAHEFAHQLARHTAENLSKAPIYSL

Fission yeast                 EGILPMCKGEDGLAAVLAHETAHQVARHSAEKIAFTRAVS-

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
Active site	328 – 328
Metal binding	327 – 327	Zinc; catalytic
Metal binding	331 – 331	Zinc; catalytic
Mutagenesis	328 – 328	E -> Q. Abolished protease activity and ability to mediate cleavage of DELE1 in response to mitochondrial stress. Abolished ability to mediate cleavage of PINK1 in depolarized mitochondria.
Mutagenesis	331 – 331	H -> A. Abolishes ability to cleave OPA1 at S1 position.

Literature citations

Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis.
Daoud H.; Valdmanis P.N.; Gros-Louis F.; Belzil V.; Spiegelman D.; Henrion E.; Diallo O.; Desjarlais A.; Gauthier J.; Camu W.; Dion P.A.; Rouleau G.A.;
Arch. Neurol. 68:587-593(2011)
Cited for: VARIANTS TYR-69; LEU-117; GLY-272; LEU-329 AND TYR-365;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96E52: Variant p.Ile329Leu