UniProtKB/Swiss-Prot P05161: Variant p.Ser83Asn

Ubiquitin-like protein ISG15
Gene: ISG15
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Variant information Variant position:

83 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 83 (S83N, p.Ser83Asn). 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 rs1921 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

QGLGPGSTVLLVVDKCDEPL S ILVRNNKGRSSTYEVRLTQT 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                         QGLGPGSTVLLVVDKCDEPLSILVRNNKGRSSTYEVRLTQT

Mouse                         LGLGPSSTVMLVVQNCSEPLSILVRNERGHSNIYEVFLTQT

Bovine                        QGLRAGSTVLLVVQNC---ISILVRNDKGRSSPYEVQLKQT

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	2 – 157	Ubiquitin-like protein ISG15
Domain	79 – 157	Ubiquitin-like 2
Modified residue	78 – 78	S-nitrosocysteine; alternate
Disulfide bond	78 – 78	Interchain (with C-87 in UBE2N); alternate
Mutagenesis	83 – 83	S -> A. Does not affect ISG15 signaling, interaction with ITGAL or activation of SRC family tyrosine kinases.
Mutagenesis	96 – 96	Y -> L. Reduces ISG15 signaling. Strongly reduces ISG15 signaling and abolishes interaction with ITGAL and activation of SRC family tyrosine kinases; when associated with D-102.
Mutagenesis	99 – 99	R -> A. Strongly reduces ISG15 signaling and abolishes interaction with ITGAL.
Mutagenesis	101 – 101	T -> A. Strongly reduces ISG15 signaling and abolishes interaction with ITGAL and activation of SRC family tyrosine kinases.
Mutagenesis	102 – 102	Q -> D. Reduces ISG15 signaling. Strongly reduces ISG15 signaling and abolishes interaction with ITGAL and activation of SRC family tyrosine kinases; when associated with L-96.
Mutagenesis	103 – 103	T -> A. Strongly reduces ISG15 signaling and abolishes interaction with ITGAL.
Beta strand	82 – 87

Literature citations
Conjugation by ubiquitin-like proteins.
Kamitani T.; Fukuda-Kamitani T.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ASN-83; Cloning of human full-length CDSs in BD Creator(TM) system donor vector.
Kalnine N.; Chen X.; Rolfs A.; Halleck A.; Hines L.; Eisenstein S.; Koundinya M.; Raphael J.; Moreira D.; Kelley T.; LaBaer J.; Lin Y.; Phelan M.; Farmer A.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT ASN-83; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT ASN-83;

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.