Variant position: 124 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 SLWYMNSDPNINQFFKYLLI FLITMLILVTANNLFQLFIGW
Gorilla SLWYMNSDPNINQFFKYLLI FLITMLILVTANNLFQLFIGW
Chimpanzee SLWYMDSDPNINQFFKYLLI FLITMLILVTANNLFQLFIGW
Mouse SSWYMHSDPNINRFIKYLTL FLITMLILTSANNMFQLFIGW
Rat SSWYMHSDPHINRFIKYLMM FLITMLILTSANNLFQLFIGW
Pig SMWYMHSDPFINRFFKYLVL FLITMMILVTANNLFQLFIGW
Bovine SMWYMYSDPNINKFFKYLLL FLITMLILVTANNLFQLFIGW
Rabbit SMWYMHSDPKINQFFKYLLM FLITMLILVTANNMFQLFIGW
Sheep SMWYMHSDPNINQFFKYLLL FLITMLILVTANNLFQLFIGW
Cat SMWYMHSDPYINRFFKYLLM FLITMMILVTANNLFQLFIGW
Horse SLWYMHSDPYITRFFKYLLT FLITMMILVTANNLFQLFIGW
Chicken ATWYMASEPFITKFFTYLLT FLIAMLTLTIANNMFLLFVGW
Xenopus laevis ATWYMASDPMISRFFKYLLT FLVAMVILVTANNFFQFFIGW
Zebrafish ASWYMASYPQKELFYKYLLL FLMSMIILVTANNLFQLFIGW
Caenorhabditis elegans STYYLNSELNFNYYYFVLLI FVGSMFSLNFSNSIFTMLLSW
Drosophila SKEYMMNDNHINRFIMLVLM FVLSMMLLIISPNLISILLGW
Slime mold SMDYMKEDPHKTRFFSYLSL FTFFMMLLVTADNFVQLFFGW
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
122 – 142 Helical
Leigh disease associated with a novel mitochondrial DNA ND5 mutation.
Taylor R.W.; Morris A.A.M.; Hutchinson M.; Turnbull D.M.;
Eur. J. Hum. Genet. 10:141-144(2002)
Cited for: VARIANT LS LEU-124;
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.