UniProtKB/SwissProt variant VAR

Variant information

Variant position:

393

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 Aspartate (D) to Asparagine (N) at position 393 (D393N, p.Asp393Asn).

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 acidic (D) to medium size and polar (N)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

1

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 MELAS.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs267606897 [ dbSNP | Ensembl ]

Sequence information

Variant position:

393

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:

LTIGSLALAGMPFLTGFYSK D HIIETANMSYTNAWALSITL

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                         LTIGSLALAGMPFLTGFYSKDHIIETANMSYT--NAWALSITL

Gorilla                       LAIGSLALMGMPFLTGFYSKDLIIETANMSHT--NAWALSI

                              LIIGSLALTGMPFLTGFYSKDLIIESANTSNT--NAWALLI

Chimpanzee                    LTIGSLALAGMPFLTGFYSKDLIIETANMSYT--NAWALSI

Mouse                         LVIGSLALTGMPFLTGFYSKDLIIEAINTCNT--NAWALLI

Rat                           LIIGSLALTGMPFLTGFYSKDLIIEAINTCNT--NAWALMI

Pig                           LIIGSLALTGMPYLTGFYSKDLIIEAVNMSYT--NAWALLM

Bovine                        LIVGSLALTGMPFLTGFYSKDLIIEAANTSYT--NAWALLM

Rabbit                        LTIGSLALTGMPFLTGFYSKDLIIESANTSNT--NAWALII

Sheep                         LIIGSLALTGMPFLTGFYSKDLIIESANTSYT--NAWALLM

Cat                           LIIGSLALTGMPFLTGFYSKDLIIETANTSYT--NAWALLI

Horse                         LIIGSLALTGIPFLTGFYSKDLIIETANTSYT--NAWALLM

Chicken                       LTIGNLALMGTPFLAGFYSKDLIIENLNTSYI--NTWALSL

                              LIIGSLALAGMPFLTGFYSKDLIIETANMSYM--NAWALSI

Xenopus laevis                LTIGSLALTGTPFLAGFFSKDAIIEALNTSQT--NTWALTL

Zebrafish                     LTIGKMALMGTPFLAGFFSKDAILEAMTTSHL--NAWALTL

Caenorhabditis elegans        MLVTLFCLCGLIFSSGAVSKDFILELFFSNNY--MMFFSLM

Drosophila                    FNVSNLALCGMPFLAGFYSKDMILEIVSISNV--NMFSFFL

Slime mold                    MLIGTLALTGFPFLSGYYSKDIILETSYATYYWEGTFAAII

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

Literature citations

Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.
Santorelli F.M.; Tanji K.; Kulikova R.; Shanske S.; Vilarinho L.; Hays A.P.; DiMauro S.;
Biochem. Biophys. Res. Commun. 238:326-328(1997)
Cited for: VARIANT MELAS ASN-393;

Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.
Blok M.J.; Spruijt L.; de Coo I.F.M.; Schoonderwoerd K.; Hendrickx A.; Smeets H.J.;
J. Med. Genet. 44:E74-E74(2007)
Cited for: VARIANTS MELAS THR-236 AND ASN-393;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P03915: Variant p.Asp393Asn