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UniProtKB/Swiss-Prot O94813: Variant p.Ser636Pro

Slit homolog 2 protein
Gene: SLIT2
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.

TypePositionsDescription
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.