UniProtKB/Swiss-Prot O94813: Variant p.Ser636Pro

Slit homolog 2 protein
Gene: SLIT2
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Variant information Variant position:

636 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 Serine (S) to Proline (P) at position 636 (S636P, p.Ser636Pro). 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 polar (S) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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

Sequence information Variant position:

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

1529 The length of the canonical sequence.
Location on the sequence:

NRITCVGNDSFIGLSSVRLL S LYDNQITTVAPGAFDTLHSL 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                         NRITCVGNDSFIGLSSVRLLSLYDNQITTVAPGAFDTLHSL

Mouse                         NRISCVGNDSFIGLGSVRLLSLYDNQITTVAPGAFDSLHSL

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	31 – 1529	Slit homolog 2 protein
Chain	31 – 1121	Slit homolog 2 protein N-product
Repeat	631 – 652	LRR 16
Glycosylation	623 – 623	N-linked (GlcNAc...) asparagine
Beta strand	633 – 636

Literature citations
Cloning and expressions of three mammalian homologues of Drosophila slit suggest possible roles for Slit in the formation and maintenance of the nervous system.
Itoh A.; Miyabayashi T.; Ohno M.; Sakano S.;
Brain Res. Mol. Brain Res. 62:175-186(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2); TISSUE SPECIFICITY; VARIANTS PRO-636 AND PHE-1277;

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.