Variant position: 53 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 115 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 KSTPYECGFDPMSPARVPFS MKFFLVAITFLLFDLEIALLL
Gorilla KTNPYECGFDPVSPARIPFS MKFFLVAITFLLFDLEIALLL
Chimpanzee KSTPYECGFDPMSPARVPFS MKFFLVAITFLLFDLEIALLL
Mouse KANPYECGFDPTSSARLPFS MKFFLVAITFLLFDLEIALLL
Rat KANPYECGFDPTSSARLPFS MKFFLVAITFLLFDLEIALLL
Pig KTSPYECGFDPMGSARLPFS MKFFLVAITFLLFDLEIALLL
Bovine KTSPYECGFDPMGSARLPFS MKFFLVAITFLLFDLEIALLL
Rabbit KSSPYECGFDPMGSARLPFS MKFFLVAITFLLFDLEIALLL
Sheep KTSPYECGFDPMGSARLPFS MKFFLVAITFLLFDLEIALLL
Cat KASPYECGFDPMGSARLPFS MKFFLVAITFLLFDLEIALLL
Horse KTSPYECGFDPMGSARLPFS MKFFLVAITFLLFDLEIALLL
Chicken KLSPYECGFDPLGSARLPFS IRFFLVAILFLLFDLEIALLL
Xenopus laevis KLSPYECGFDPLGSMRLPFS MRFFLIAILFLLFDLEIALLL
Zebrafish KLSPYECGFDPLGSARLPFS LRFFLVAVLFPLFDLEIALLL
Caenorhabditis elegans KISAFECGFVSVGKIQNSFS IHFFIMMLMFVIFDLEIVMFL
Drosophila KSSPFECGFDPKSSSRLPFS LRFFLITIIFLIFDVEIALIL
Slime mold KLMGYECGFDPFGNARGEFD IRFYLVAILFLIFDLEITFLF
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 – 115 NADH-ubiquinone oxidoreductase chain 3
Normal variants of human mitochondrial DNA and translation products: the building of a reference data base.
Marzuki S.; Noer A.S.; Lertrit P.; Thyagarajan D.; Kapsa R.; Utthanaphol P.; Byrne E.;
Hum. Genet. 88:139-145(1991)
Cited for: VARIANTS VAL-53 AND ALA-114;
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.