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UniProtKB/Swiss-Prot Q15811: Variant p.Ser1137Asn

Intersectin-1
Gene: ITSN1
Variant information

Variant position:  1137
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Serine (S) to Asparagine (N) at position 1137 (S1137N, p.Ser1137Asn).
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 polar (N)
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

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  1137
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1721
The length of the canonical sequence.

Location on the sequence:   QARGKKRQIGWFPANYVKLL  S PGTSKITPTEPPKSTALAAV
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                         QARGKKRQIGWFPANYVKLLSPGTSKITPTEPPKSTALAAV

Mouse                         QARGKKRQIGWFPANYVKLLSPGTSKITPTELPKTAVQPAV

Rat                           QARGKKRQIGWFPANYVKLLSPGTSKITPTELPKTAVQPAV

Xenopus laevis                QARGKKRQIGWFPANYVKLLSPGTNKSTPTEPPKPTSLPPT

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 1 – 1721 Intersectin-1
Domain 1074 – 1138 SH3 4
Region 1074 – 1138 Required for interaction with FCHSD2
Modified residue 1137 – 1137 Phosphoserine
Modified residue 1144 – 1144 Phosphothreonine
Alternative sequence 920 – 1721 Missing. In isoform 13.
Alternative sequence 1021 – 1721 Missing. In isoform 6.
Alternative sequence 1026 – 1721 Missing. In isoform 5.
Mutagenesis 1119 – 1119 R -> AE. Abolishes interaction with FCHSD2.


Literature citations

Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon.
Guipponi M.; Scott H.S.; Chen H.; Schebesta A.; Rossier C.; Antonarakis S.E.;
Genomics 53:369-376(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2); VARIANT ASN-1137; TISSUE SPECIFICITY;

Structural diversity and differential expression of novel human intersectin 1 isoforms.
Kropyvko S.; Gerasymchuk D.; Skrypkina I.; Dergai M.; Dergai O.; Nikolaienko O.; Rynditch A.; Tsyba L.;
Mol. Biol. Rep. 37:2789-2796(2010)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3; 6; 7; 8; 9; 10; 11 AND 12); VARIANT ASN-1137; ALTERNATIVE SPLICING;

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.