Variant position: 79 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 DPLTTPLLMLTTWLLPLTIM ASQRHLSSEPLSRKKLYLSML
Gorilla DPLTTPLLMLTTWLLPLTIM ASQRHLSNEPLSRKKLYLSML
Chimpanzee DPLTTPLLMLTAWLLPLTIM ASQRHLSNEPLSRKKLYLSML
Mouse DPLSTPLIILTAWLLPLMLM ASQNHLKKDNNVLQKLYISML
Rat DPLSTPLIILTTWLLPLMML ASQNHMKKENMMHQKLYISML
Pig DSLSAPLLVLTTWLLPLMLM ASQSHLSKETTTRKKLYITML
Bovine DSLSTPLLILTMWLLPLMLM ASQHHLSKENLTRKKLFITML
Rabbit DALSTPLLMLTTWLLPLMIL ASQHHLDKETLTRKKIYISLL
Sheep DSLSTPLLILTMWLLPLMLM ASQHHLSKENLARKKLFISML
Cat DSLSAPLLVLTTWLLPLMLM ASQSHLSKETPSRKKLYITML
Horse DPLSAPLLVLTTWLLPLMLM ASQHHLSKEPLIRKKLYITML
Chicken DQISTPLLVLSCWFLPLMIM ASQGHLQHEPHKRKRMFISTL
Xenopus laevis DQISTPLLILTCWLLPLMLI ASQNHLSNEPISRQRTFITML
Zebrafish DPLSTPLLVLTCWLLPLMIL ASQNHINSEPVNRQRMYITLL
Caenorhabditis elegans DSYSFILLIVMSLFILGIIV ISE---------KNNNLLILS
Drosophila DMLSYGLILLSLWICSLMLL ASE--MINKHNNYKNLFLLNI
Slime mold DGISAIFIFLTIILILSCNL ISIRVIKEK---TEQKFQIML
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
60 – 80 Helical
Mitochondrial genome diversity of native Americans supports a single early entry of founder populations into America.
Silva W.A. Jr.; Bonatto S.L.; Holanda A.J.; Ribeiro-Dos-Santos A.K.; Paixao B.M.; Goldman G.H.; Abe-Sandes K.; Rodriguez-Delfin L.; Barbosa M.; Paco-Larson M.L.; Petzl-Erler M.L.; Valente V.; Santos S.E.; Zago M.A.;
Am. J. Hum. Genet. 71:187-192(2002)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT PRO-79;
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.