UniProtKB/Swiss-Prot Q5S007: Variant p.Ile1371Val

Leucine-rich repeat serine/threonine-protein kinase 2
Gene: LRRK2
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Variant information Variant position:

1371 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Valine (V) at position 1371 (I1371V, p.Ile1371Val). 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:

3 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 PARK8; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs17466213 [ dbSNP | Ensembl ]

Sequence information Variant position:

1371 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

2527 The length of the canonical sequence.
Location on the sequence:

LQQLMKTKKSDLGMQSATVG I DVKDWPIQIRDKRKRDLVLN 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                         LQQLMKTKKSDLGMQSATVGIDVKDWPIQIRDKRKRDLVLN

Mouse                         LQQLMKMKKPELGMQGATVGIDVRDWSIQIRGKRRKDLVLN

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	1 – 2527	Leucine-rich repeat serine/threonine-protein kinase 2
Domain	1328 – 1511	Roc
Beta strand	1370 – 1378

Literature citations
Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease.
Di Fonzo A.; Tassorelli C.; De Mari M.; Chien H.F.; Ferreira J.; Rohe C.F.; Riboldazzi G.; Antonini A.; Albani G.; Mauro A.; Marconi R.; Abbruzzese G.; Lopiano L.; Fincati E.; Guidi M.; Marini P.; Stocchi F.; Onofrj M.; Toni V.; Tinazzi M.; Fabbrini G.; Lamberti P.; Vanacore N.; Meco G.; Leitner P.; Uitti R.J.; Wszolek Z.K.; Gasser T.; Simons E.J.; Breedveld G.J.; Goldwurm S.; Pezzoli G.; Sampaio C.; Barbosa E.; Martignoni E.; Oostra B.A.; Bonifati V.;
Eur. J. Hum. Genet. 14:322-331(2006)
Cited for: VARIANTS PARK8 VAL-1371; CYS-1441 AND SER-2019; LRRK2 gene in Parkinson disease: mutation analysis and case control association study.
Paisan-Ruiz C.; Lang A.E.; Kawarai T.; Sato C.; Salehi-Rad S.; Fisman G.K.; Al-Khairallah T.; St George-Hyslop P.H.; Singleton A.; Rogaeva E.;
Neurology 65:696-700(2005)
Cited for: VARIANTS PARK8 VAL-1371 AND SER-2019; VARIANTS HIS-1398 AND THR-2397;

Disclaimer: 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.