UniProtKB/Swiss-Prot O15247: Variant p.His101Gln

Chloride intracellular channel protein 2
Gene: CLIC2
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Variant information Variant position:

101 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 Histidine (H) to Glutamine (Q) at position 101 (H101Q, p.His101Gln). 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:

Found in a patient with syndromic intellectual disability; uncertain significance; results in stimulation of RYR channels activity with channels remaining open for longer times; the mutation may impair insertion of the protein into the membrane to form a functioning ion channel. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs398122917 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

TDFIKIEEFLEQTLAPPRYP H LSPKYKESFDVGCNLFAKFS 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                         TDFIKIEEFLEQTLAPPRYPHLSPKYKESFDVGCNLFAKFS

Rat                           TDFIKIEEFLEKTLAPPRYPHLSPKYKESFDVGCNLFAKFS

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 – 247	Chloride intracellular channel protein 2
Domain	76 – 239	GST C-terminal
Region	95 – 106	Joint loop

Literature citations
An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.
Takano K.; Liu D.; Tarpey P.; Gallant E.; Lam A.; Witham S.; Alexov E.; Chaubey A.; Stevenson R.E.; Schwartz C.E.; Board P.G.; Dulhunty A.F.;
Hum. Mol. Genet. 21:4497-4507(2012)
Cited for: TISSUE SPECIFICITY; VARIANT GLN-101; CHARACTERIZATION OF VARIANT GLN-101;

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.