UniProtKB/SwissProt variant VAR

Variant information

Variant position:

253

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 Valine (V) to Alanine (A) at position 253 (V253A, p.Val253Ala).

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 medium size and hydrophobic (V) to small size and hydrophobic (A)

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 mitochondrial complex I deficiency; unknown pathological significance.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs1603224029 [ dbSNP | Ensembl ]

Sequence information

Variant position:

253

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

Protein sequence length:

603

The length of the canonical sequence.

Location on the sequence:

LPSAMEGPTPVSALLHSSTM V VAGIFLLIRFHPLAENSPLI

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                         LPSAMEGPTPVSALLHSSTMVVAGIFLLIRFHPLAENSPLI

Gorilla                       LPSAMEGPTPVSALLHSSTMVVAGVFLLIRFRHLAENNSLA

                              LPSAMEGPTPVSALLHSSTMVVAGVFLLIRFHPLMEHNQTI

Chimpanzee                    LPSAMEGPTPVSALLHSSTMVVAGIFLLIRFYPLAENNPLI

Mouse                         LPSAMEGPTPVSALLHSSTMVVAGIFLLVRFHPLTTNNNFI

Rat                           LPSAMEGPTPVSALLHSSTMVVAGIFLMIRFHPLTSNNSTI

Pig                           LPSAMEGPTPVSALLHSSTMVVAGVFLLIRFYPLMETNKLV

Bovine                        LPSAMEGPTPVSALLHSSTMVVAGIFLLIRFYPLTENNKYI

Rabbit                        LPSAMEGPTPVSALLHSSTMVVAGVFLLIRFYPLLENNKTA

Sheep                         LPSAMEGPTPVSALLHSSTMVVAGIFLLIRFYPLTENNKFG

Cat                           LPSAMEGPTPVSALLHSSTMVVAGVFLLIRFYPLMEQNKTM

Horse                         LPSAMEGPTPVSALLHSSTMVVAGVFLLIRFHPLMENNKTI

Chicken                       LPAAMEGPTPVSALLHSSTMVVAGIFLLIRTHPFLSSNKTA

                              LPSAMEGPTPVSALLHSSTMVVAGVFLLIRFHPLAENNPLI

Xenopus laevis                LPAAMEGPTPVSALLHSSTMVVAGIFLLIRISPMMNNNQTA

Zebrafish                     LPSAMEGPTPVSALLHSSTMVVAGIFLLIRLHPIMETNKLA

Caenorhabditis elegans        LPKAMSAPTPVSSLVHSSTLVTAGLILLMNFNNLVMQKDFI

Drosophila                    LPAAMAAPTPVSALVHSSTLVTAGVYLLIRFNIILSTSWLG

Slime mold                    LPDAMEGPTPVSALLHAATMVTAGVFLVLRTSPLLSYSITI

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 – 603	NADH-ubiquinone oxidoreductase chain 5
Transmembrane	241 – 261	Helical

Literature citations

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
Calvo S.E.; Tucker E.J.; Compton A.G.; Kirby D.M.; Crawford G.; Burtt N.P.; Rivas M.; Guiducci C.; Bruno D.L.; Goldberger O.A.; Redman M.C.; Wiltshire E.; Wilson C.J.; Altshuler D.; Gabriel S.B.; Daly M.J.; Thorburn D.R.; Mootha V.K.;
Nat. Genet. 42:851-858(2010)
Cited for: VARIANTS ALA-253 AND SER-447;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P03915: Variant p.Val253Ala