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UniProtKB/Swiss-Prot P03915 : Variant p.Asp393Asn
NADH-ubiquinone oxidoreductase chain 5
Gene: MT-ND5
Variant information
Variant position: 393 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LP/P [Disclaimer : Variants classification is intended for research purposes only, not for clinical and diagnostic use . The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant. ]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: 1The 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.
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 LTIGSLALAGMPFLTGFYSKD HIIETANMSYT--NAWALSITL
Gorilla LAIGSLALMGMPFLTGFYSKD LIIETANMSHT--NAWALSI
LIIGSLALTGMPFLTGFYSKD LIIESANTSNT--NAWALLI
Chimpanzee LTIGSLALAGMPFLTGFYSKD LIIETANMSYT--NAWALSI
Mouse LVIGSLALTGMPFLTGFYSKD LIIEAINTCNT--NAWALLI
Rat LIIGSLALTGMPFLTGFYSKD LIIEAINTCNT--NAWALMI
Pig LIIGSLALTGMPYLTGFYSKD LIIEAVNMSYT--NAWALLM
Bovine LIVGSLALTGMPFLTGFYSKD LIIEAANTSYT--NAWALLM
Rabbit LTIGSLALTGMPFLTGFYSKD LIIESANTSNT--NAWALII
Sheep LIIGSLALTGMPFLTGFYSKD LIIESANTSYT--NAWALLM
Cat LIIGSLALTGMPFLTGFYSKD LIIETANTSYT--NAWALLI
Horse LIIGSLALTGIPFLTGFYSKD LIIETANTSYT--NAWALLM
Chicken LTIGNLALMGTPFLAGFYSKD LIIENLNTSYI--NTWALSL
LIIGSLALAGMPFLTGFYSKD LIIETANMSYM--NAWALSI
Xenopus laevis LTIGSLALTGTPFLAGFFSKD AIIEALNTSQT--NTWALTL
Zebrafish LTIGKMALMGTPFLAGFFSKD AILEAMTTSHL--NAWALTL
Caenorhabditis elegans MLVTLFCLCGLIFSSGAVSKD FILELFFSNNY--MMFFSLM
Drosophila FNVSNLALCGMPFLAGFYSKD MILEIVSISNV--NMFSFFL
Slime mold MLIGTLALTGFPFLSGYYSKD IILETSYATYYWEGTFAAII
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;
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.