Variant position: 294 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 459 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 SICLRQTDLKSLIAYSSISH MALVVTAILIQTP-WSFTGAVI
Gorilla SISLRQTDLKSLIAYSSISH MALVVAAILIQTP-WSFTGAV
Chimpanzee SICLRQTDLKSLIAYPSVSH MALVVTAILIQTP-WSFTGAI
Mouse SICLRQTDLKSLIAYSSVSH MALVIASIMIQTP-WSFMGAT
Rat SICLRQTDLKSLIAYSSVSH MALVITAIMIQTP-WSFMGAT
Pig SICLRQTDLKSLIAYSSVSH MALVIVAIMIQTP-WSFMGAT
Bovine SICLRQTDLKSLIAYSSVSH MALVIVAILIQTP-WSYMGAT
Rabbit SICLRQTDLKSLIAYSSVSH MALVIVAILIQTP-WSFMGAT
Sheep SICLRQTDLKSLIAYSSVSH MALVIVAILIQTP-WSYMGAT
Cat SICLRQTDLKSLIAYSSVSH MALVIVAVLIQTP-WSYMGAT
Horse SICLRQTDLKSLIAYSSVSH MALVIVAVLIQTP-WSYMGAT
Chicken SICLRQTDLKSLIAYSSVSH MGLVIAASMIQTQ-WSFSGAM
Xenopus laevis SICLRQTDLKSMIAYSSVSH MGLVISAGNNQTPMKALTGAM
Zebrafish LVCLRQTDLKSLIAYSSVGH MGLVAGGILIQTP-WGFTGAI
Caenorhabditis elegans FCCVFQSDSKALAAYSSVTH MSFLLLSLVFITM-SSKISSV
Drosophila LVCLRQTDLKALIAYSSVAH MGIVLSGLLTMTY-WGLCGSY
Slime mold IATLTQLDVKRIVAYSSISH MNVIVLGLFSGVL-QGIEGGI
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 – 459 NADH-ubiquinone oxidoreductase chain 4
284 – 303 Helical
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 PRO-79; PRO-109; THR-132 AND THR-294;
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.