UniProtKB/Swiss-Prot Q96EP0: Variant p.Gln399His

E3 ubiquitin-protein ligase RNF31
Gene: RNF31
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Variant information Variant position:

399 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Glutamine (Q) to Histidine (H) at position 399 (Q399H, p.Gln399His). 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:

Similar physico-chemical property. Both residues are medium size and polar. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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
Variant description:

In IMD115; uncertain significance; decreased interaction with SHARPIN; does not affect interaction with RBCK1; the genetic variation producing this missense variant predominantly affects splicing, leading to in-frame skipping of exon 9 and lack of 84 amino acids from residue 496 to 579. Any additional useful information about the variant.

Sequence information Variant position:

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

1072 The length of the canonical sequence.
Location on the sequence:

AQPPSLVVDSRDAGICLQPL Q QGDALLASAQSQVWYCIHCT 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                         AQPPSLVVDSRDAGICLQPLQQGDALLASAQSQVWYCIHCT

Mouse                         AQPPSLVVDSHDAGVCQQSLKQEDPLLTAAQPQVWYCDHCT

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 – 1072	E3 ubiquitin-protein ligase RNF31
Region	1 – 485	Polyubiquitin-binding
Modified residue	383 – 383	Phosphoserine
Alternative sequence	73 – 630	Missing. In isoform 2.
Mutagenesis	390 – 390	D -> A. Abolishes cleavage by caspase.

Literature citations
Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC.
Oda H.; Beck D.B.; Kuehn H.S.; Sampaio Moura N.; Hoffmann P.; Ibarra M.; Stoddard J.; Tsai W.L.; Gutierrez-Cruz G.; Gadina M.; Rosenzweig S.D.; Kastner D.L.; Notarangelo L.D.; Aksentijevich I.;
Front. Immunol. 10:479-479(2019)
Cited for: INVOLVEMENT IN IMD115; VARIANT IMD115 HIS-399; CHARACTERIZATION OF VARIANT IMD115 HIS-399; INTERACTION WITH RBCK1 AND SHARPIN;

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.