Variant position: 257 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 MEGPTPVSALLHSSTMVVAG IFLLIRFHPLAENSPLIQTLT
Gorilla MEGPTPVSALLHSSTMVVAG VFLLIRFRHLAENNSLAQTLT
Chimpanzee MEGPTPVSALLHSSTMVVAG IFLLIRFYPLAENNPLIQTLT
Mouse MEGPTPVSALLHSSTMVVAG IFLLVRFHPLTTNNNFILTTM
Rat MEGPTPVSALLHSSTMVVAG IFLMIRFHPLTSNNSTIMTAM
Pig MEGPTPVSALLHSSTMVVAG VFLLIRFYPLMETNKLVQTMT
Bovine MEGPTPVSALLHSSTMVVAG IFLLIRFYPLTENNKYIQSIT
Rabbit MEGPTPVSALLHSSTMVVAG VFLLIRFYPLLENNKTAQTLI
Sheep MEGPTPVSALLHSSTMVVAG IFLLIRFYPLTENNKFGQSIM
Cat MEGPTPVSALLHSSTMVVAG VFLLIRFYPLMEQNKTMQTLT
Horse MEGPTPVSALLHSSTMVVAG VFLLIRFHPLMENNKTIQSLT
Chicken MEGPTPVSALLHSSTMVVAG IFLLIRTHPFLSSNKTALTTC
Xenopus laevis MEGPTPVSALLHSSTMVVAG IFLLIRISPMMNNNQTALTIC
Zebrafish MEGPTPVSALLHSSTMVVAG IFLLIRLHPIMETNKLAPTIC
Caenorhabditis elegans MSAPTPVSSLVHSSTLVTAG LILLMNFNNLVMQKDFIS-FV
Drosophila MAAPTPVSALVHSSTLVTAG VYLLIRFNIILSTSWLGQ-LM
Slime mold MEGPTPVSALLHAATMVTAG VFLVLRTSPLLSYSITILNIL
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
241 – 261 Helical
Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs.
Horai S.; Hayasaka K.; Kondo R.; Tsugane K.; Takahata N.;
Proc. Natl. Acad. Sci. U.S.A. 92:532-536(1995)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS PRO-211; VAL-257 AND VAL-314;
Major genomic mitochondrial lineages delineate early human expansions.
Maca-Meyer N.; Gonzalez A.M.; Larruga J.M.; Flores C.; Cabrera V.M.;
BMC Genet. 2:13-13(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT VAL-257;
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.