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:
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 LTIGSLALAGMPFLTGFYSK DHIIETANMSYT--NAWALSITL
Gorilla LAIGSLALMGMPFLTGFYSK DLIIETANMSHT--NAWALSI
Chimpanzee LTIGSLALAGMPFLTGFYSK DLIIETANMSYT--NAWALSI
Mouse LVIGSLALTGMPFLTGFYSK DLIIEAINTCNT--NAWALLI
Rat LIIGSLALTGMPFLTGFYSK DLIIEAINTCNT--NAWALMI
Pig LIIGSLALTGMPYLTGFYSK DLIIEAVNMSYT--NAWALLM
Bovine LIVGSLALTGMPFLTGFYSK DLIIEAANTSYT--NAWALLM
Rabbit LTIGSLALTGMPFLTGFYSK DLIIESANTSNT--NAWALII
Sheep LIIGSLALTGMPFLTGFYSK DLIIESANTSYT--NAWALLM
Cat LIIGSLALTGMPFLTGFYSK DLIIETANTSYT--NAWALLI
Horse LIIGSLALTGIPFLTGFYSK DLIIETANTSYT--NAWALLM
Chicken LTIGNLALMGTPFLAGFYSK DLIIENLNTSYI--NTWALSL
Xenopus laevis LTIGSLALTGTPFLAGFFSK DAIIEALNTSQT--NTWALTL
Zebrafish LTIGKMALMGTPFLAGFFSK DAILEAMTTSHL--NAWALTL
Caenorhabditis elegans MLVTLFCLCGLIFSSGAVSK DFILELFFSNNY--MMFFSLM
Drosophila FNVSNLALCGMPFLAGFYSK DMILEIVSISNV--NMFSFFL
Slime mold MLIGTLALTGFPFLSGYYSK DIILETSYATYYWEGTFAAII
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
1 – 603 NADH-ubiquinone oxidoreductase chain 5
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;
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.