UniProtKB/SwissProt variant VAR

Variant information

Variant position:

80

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

LP/P [Disclaimer]

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 Arginine (R) to Histidine (H) at position 80 (R80H, p.Arg80His).

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 large size and basic (R) to medium size and polar (H)

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 MTDPS12A; decreased function in ADP transport.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs886041081 [ dbSNP | Ensembl ]

Sequence information

Variant position:

80

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

298

The length of the canonical sequence.

Location on the sequence:

RIPKEQGFLSFWRGNLANVI R YFPTQALNFAFKDKYKQLFL

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                         RIPKE--------------------------------------------------QGFLSFWRGNLANVIRYFPTQALN---------FAFKDKYKQLFL

Mouse                         RIPKE------------------------------------

Rat                           RIPKE------------------------------------

Bovine                        RIPKE------------------------------------

Rabbit                        RIPKE------------------------------------

Caenorhabditis elegans        TIPAHLHFNYTIPTSAQLDSSFIFPNMDPITLEIGLFLDSK

Baker's yeast                 RTATH------------------------------------

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 – 298	ADP/ATP translocase 1
Transmembrane	75 – 99	Helical; Name=2
Repeat	6 – 98	Solcar 1
Binding site	80 – 80	ADP
Binding site	92 – 92	ADP

Literature citations

Recurrent de novo dominant mutations in SLC25A4 cause severe early-onset mitochondrial disease and loss of mitochondrial DNA copy number.
Thompson K.; Majd H.; Dallabona C.; Reinson K.; King M.S.; Alston C.L.; He L.; Lodi T.; Jones S.A.; Fattal-Valevski A.; Fraenkel N.D.; Saada A.; Haham A.; Isohanni P.; Vara R.; Barbosa I.A.; Simpson M.A.; Deshpande C.; Puusepp S.; Bonnen P.E.; Rodenburg R.J.; Suomalainen A.; Ounap K.; Elpeleg O.; Ferrero I.; McFarland R.; Kunji E.R.; Taylor R.W.;
Am. J. Hum. Genet. 99:860-876(2016)
Cited for: FUNCTION; INVOLVEMENT IN MTDPS12A; VARIANTS MTDPS12A HIS-80 AND GLY-235; CHARACTERIZATION OF VARIANTS MTDPS12A HIS-80 AND GLY-235; CHARACTERIZATION OF VARIANTS PEOA2 ASP-90; PRO-98; GLY-104 AND PRO-114; CHARACTERIZATION OF VARIANTS MTDPS12B ASP-123 AND PRO-236;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P12235: Variant p.Arg80His