UniProtKB/Swiss-Prot Q6KCM7: Variant p.Gln315His

Mitochondrial adenyl nucleotide antiporter SLC25A25
Gene: SLC25A25
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Variant information Variant position:

315 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 315 (Q315H, p.Gln315His). 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 patients with recurrent kidney stones formation; uncertain significance; no effect on protein abundance; no effect on stability; decreased adenyl nucleotide antiporter activity; no effect on transporter activity regulation by calcium. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs140777921 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

QSSIYPMEVLKTRMALRKTG Q YSGMLDCARRILAREGVAAF 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                         QSSIYPMEVLKTRMALRKTGQYSGMLDCARRILAREGVAAF

Mouse                         QSSIYPMEVLKTRMALRKTGQYSGMLDCARRILAKEGVAAF

Rat                           QSSIYPMEVLKTRMALRKTGQYSGMLDCAKRILAKEGVAAF

Bovine                        QSSIYPMEVLKTRMALRKTGQYSGMLDCARKILAREGMAAF

Xenopus laevis                QSSIYPMEVLKTRMALRKTGQYQGVLDCGKKILLQEGLSAF

Xenopus tropicalis            QSSIYPMEVLKTRMALRKTGQYQGMLDCGKKILLKEGVSAF

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 – 469	Mitochondrial adenyl nucleotide antiporter SLC25A25
Topological domain	302 – 337	Mitochondrial matrix
Repeat	278 – 363	Solcar 2
Region	166 – 469	C-terminal transmembrane transporter domain

Literature citations
Exome sequencing identifies a disease variant of the mitochondrial ATP-Mg/Pi carrier SLC25A25 in two families with kidney stones.
Jabalameli M.R.; Fitzpatrick F.M.; Colombo R.; Howles S.A.; Leggatt G.; Walker V.; Wiberg A.; Kunji E.R.S.; Ennis S.;
Mol. Genet. Genomic Med. 9:e1749-e1749(2021)
Cited for: VARIANT HIS-315; CHARACTERIZATION OF VARIANT HIS-315; FUNCTION; TRANSPORTER ACTIVITY;

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.