UniProtKB/Swiss-Prot P13489: Variant p.Gln93His

Ribonuclease inhibitor
Gene: RNH1
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Variant information Variant position:

93 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 93 (Q93H, p.Gln93His). 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 IIAE12; uncertain significance. Any additional useful information about the variant.

Sequence information Variant position:

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

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

VHCVLQGLQTPSCKIQKLSL Q NCCLTGAGCGVLSSTLRTLP 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                         VHCVLQGLQTPSCKIQKLSLQNCCLTGAGCGVLSSTLRTLP

Chimpanzee                    VHCVLQGLQSPSCKIQKLSLQNCCLTGAGCGVLSSTLRTLP

Mouse                         VGLVLQGLQNPTCKIQKLSLQNCGLTEAGCGILPGMLRSLS

Rat                           VGLVLQGLQNPTCKIQKLSLQNCSLTEAGCGVLPDVLRSLS

Pig                           VHLVLQGLQSPTCKIQKLSLQNCSLTEAGCGVLPSTLRSLP

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 – 461	Ribonuclease inhibitor
Repeat	77 – 105	LRR 3
Modified residue	82 – 82	Phosphothreonine
Modified residue	91 – 91	Phosphoserine

Literature citations
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Shashi V.; Schoch K.; Ganetzky R.; Kranz P.G.; Sondheimer N.; Markert M.L.; Cope H.; Sadeghpour A.; Roehrs P.; Arbogast T.; Muraresku C.; Tyndall A.V.; Esser M.J.; Woodward K.E.; Ping-Yee Au B.; Parboosingh J.S.; Lamont R.E.; Bernier F.P.; Wright N.A.M.; Benseler S.M.; Parsons S.J.; El-Dairi M.; Smith E.C.; Valdez P.; Tennison M.; Innes A.M.; Davis E.E.;
Genet. Med. 25:100897-100897(2023)
Cited for: VARIANTS IIAE12 14-GLU--SER-461 DEL; HIS-93; TYR-209; PRO-296 AND TRP-373; INVOLVEMENT IN IIAE12;

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.