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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P03915: Variant p.Asp393Asn

NADH-ubiquinone oxidoreductase chain 5
Gene: MT-ND5
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Variant information Variant position: help 393 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help 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: help 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: help 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: help In MELAS. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 393 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 603 The length of the canonical sequence.
Location on the sequence: help 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LTIGSLALAGMPFLTGFYSKDHIIETANMSY--TNAWALSITL

Gorilla                       LAIGSLALMGMPFLTGFYSKDLIIETANMSH--TNAWALSI

                              LIIGSLALTGMPFLTGFYSKDLIIESANTSN--TNAWALLI

Chimpanzee                    LTIGSLALAGMPFLTGFYSKDLIIETANMSY--TNAWALSI

Mouse                         LVIGSLALTGMPFLTGFYSKDLIIEAINTCN--TNAWALLI

Rat                           LIIGSLALTGMPFLTGFYSKDLIIEAINTCN--TNAWALMI

Pig                           LIIGSLALTGMPYLTGFYSKDLIIEAVNMSY--TNAWALLM

Bovine                        LIVGSLALTGMPFLTGFYSKDLIIEAANTSY--TNAWALLM

Rabbit                        LTIGSLALTGMPFLTGFYSKDLIIESANTSN--TNAWALII

Sheep                         LIIGSLALTGMPFLTGFYSKDLIIESANTSY--TNAWALLM

Cat                           LIIGSLALTGMPFLTGFYSKDLIIETANTSY--TNAWALLI

Horse                         LIIGSLALTGIPFLTGFYSKDLIIETANTSY--TNAWALLM

Chicken                       LTIGNLALMGTPFLAGFYSKDLIIENLNTSY--INTWALSL

                              LIIGSLALAGMPFLTGFYSKDLIIETANMSY--MNAWALSI

Xenopus laevis                LTIGSLALTGTPFLAGFFSKDAIIEALNTSQ--TNTWALTL

Zebrafish                     LTIGKMALMGTPFLAGFFSKDAILEAMTTSH--LNAWALTL

Caenorhabditis elegans        MLVTLFCLCGLIFSSGAVSKDFILELFFSNN--YMMFFSLM

Drosophila                    FNVSNLALCGMPFLAGFYSKDMILEIVSISN--VNMFSFFL

Slime mold                    MLIGTLALTGFPFLSGYYSKDIILETSYATYYWEGTFAAII
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
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;
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.