UniProtKB/Swiss-Prot Q15811: Variant p.Ser1137Asn

Intersectin-1
Gene: ITSN1
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Variant information Variant position:

1137 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 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.

Variant rs187895245 [ dbSNP | Ensembl ]

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.

Type	Positions	Description
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.